From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
Manon Degoutin, Chloé Angelini, Claire Bar, Wahiba Amer El Khedoud, Christine Barnerias, Razika Boulariah‐Hadjou, Mehrdad A. Estiar, Claire Ewenczyk, Ziv Gan‐Or, Didier Lacombe, Claire Lefeuvre, Purvi Majethia, Mouna Messaoud‐Khelifi, Dhanya Lakshmi Narayanan, Guy A. Rouleau, Oksana Suchowersky, Anju Shukla, Marine Guillaud‐Bataille, Giovanni Stevanin, Cyril Goizet
Euro J of Neurology. 2024-12-27
10.1111/ene.70025

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes
Chloé Angelini, Christelle Marie Durand, Patricia Fergelot, Julie Deforges, Anne Vital, Patrice Menegon, Elizabeth Sarrazin, Rémi Bellance, Stéphane Mathis, Victoria Gonzalez, Mathilde Renaud, Solène Frismand, Emmanuelle Schmitt, Marie Rouanet, Lydie Burglen, Brigitte Chabrol, Béatrice Desnous, Benoît Arveiler, Giovanni Stevanin, Isabelle Coupry, Cyril Goizet
Movement Disorders. 2023-08-21
10.1002/mds.29576

White matter abnormalities in 15 subjects with SPG76
Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, Massimiliano Filosto, Elisa Cali, Henry Houlden, Paulo Sgobbi de Souza, Afagh Alavi, Cyril Goizet, Giovanni Stevanin, Frederic Taithe, Francesco Nicita, Gessica Vasco, Stefano Tozza, Sirio Cocozza, Nicola Carboni, Andrea Figus, Jianjun Wu, A. Nazli Basak, Bernard Brais, Guy Rouleau, Roberta La Piana
J Neurol. 2023-08-14
10.1007/s00415-023-11918-5

The burden of Huntington's disease: A prospective longitudinal study of patient/caregiver pairs.
Katia Youssov, Etienne Audureau, Henri Vandendriessche, Graca Morgado, Richard Layese, Cyril Goizet, Christophe Verny, Marie-Laure Bourhis, Anne-Catherine Bachoud-Lévi
Parkinsonism & Related Disorders. 2022-10-01
10.1016/j.parkreldis.2022.08.023

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.
C. Liautard-Haag, G. Durif, C. VanGoethem, D. Baux, A. Louis, L. Cayrefourcq, M. Lamairia, M. Willems, C. Zordan, V. Dorian, C. Rooryck, C. Goizet, A. Chaussenot, L. Monteil, P. Calvas, C. Miry, R. Favre, E. Le Boette, M. Fradin, A. F. Roux, M. Cossée, M. Koenig, C. Alix-Panabière, C. Guissart, M. C. Vincent
Sci Rep. 2022-07-06
10.1038/s41598-022-15307-2

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
eBioMedicine. 2022-07-01
10.1016/j.ebiom.2022.104130

Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Clara Fischer, Marie Chupin, Marie-Lorraine Monin, Hortense Hurmic, Fabienne Calvas, Patrick Calvas, Cyril Goizet, Stéphane Thobois, Mathieu Anheim, Karine Nguyen, David Devos, Christophe Verny, Vito A G Ricigliano, Jean-François Mangin, Alexis Brice, Sophie Tezenas du Montcel, Alexandra Durr
The Lancet Neurology. 2022-03-01
10.1016/s1474-4422(21)00457-9

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
Christelle M. Durand, Chloé Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry, Cyril Goizet, Aurelien Trimouille
BMC Neurol. 2022-02-12
10.1186/s12883-022-02553-0

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
JPM. 2022-02-03
10.3390/jpm12020212

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Jean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Laure Raymond, Bophara Kol, Olivier Ariste, Livia Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, Celia Gautier, Marine Guillaud-Bataille, Mathieu Anheim, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Perrine Charles, Alexandra Durr, Cyril Goizet, Didier Hannequin, Vincent Huin, Michel Koenig, Pierre Labauge, Eric Leguern, Karine N’Guyen, Mathilde Renaud, Diana Rodriguez, Christophe Verny, Sylvie Forlani, Pierre de la Grange, Alexis Brice, Giovanni Vazza, Giovanni Stevanin
Brain. 2022-01-04
10.1093/brain/awab386

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau, Denis Wahl, Patricia Fergelot, Cyril Goizet, Tristan Mirault, Xavier Jeunemaitre, Juliette Albuisson, Anne Dieux, Fabien Labombarda, Sylvain Rheims, Odile Boute, André Vincentelli, Annick Toutain, Sylvie Odent, Gaetan Lesca, Marie Vincent, Juliette Piard, Maud Favier, Philippe Derambure, Patrick Edery, Susanne Thummler, Marion Gérard, Fanny Morice-Picard, Valérie Layet, Cécile Laroche, Laurent Pasquier, Elisabeth Sarrazin, Thierry Billette de Villemeur, Lucie Guyant-Marechal,
Orphanet J Rare Dis. 2021-12-01
10.1186/s13023-021-02128-1

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Mehdi Benkirane, Cecilia Marelli, Claire Guissart, Agathe Roubertie, Elizabeth Ollagnon, Ariane Choumert, Frédérique Fluchère, Fabienne Ory Magne, Yosra Halleb, Mathilde Renaud, Lise Larrieu, David Baux, Olivier Patat, Idriss Bousquet, Jean-Marie Ravel, Danielle Cuntz-Shadfar, Catherine Sarret, Xavier Ayrignac, Anne Rolland, Raoul Morales, Morgane Pointaux, Cathy Lieutard-Haag, Brice Laurens, Caroline Tillikete, Emilien Bernard, Martial Mallaret, Clarisse Carra-Dallière, Christine Tranchant, Pierre Meyer, Lena Damaj, Laurent Pasquier, Cecile Acquaviva, Annabelle Chaussenot, Bertrand Isidor, Karine Nguyen, William Camu, Alexandre Eusebio, Nicolas Carrière, Audrey Riquet, Eric Thouvenot, Victoria Gonzales, Emilie Carme, Shahram Attarian, Sylvie Odent, Anna Castrioto, Claire Ewenczyk, Perrine Charles, Laurent Kremer, Samira Sissaoui, Nadia Bahi-buisson, Elsa Kaphan, Adrian Degardin, Bérénice Doray, Sophie Julia, Ganaëlle Remerand, Valerie Fraix, Lydia Abou Haidar, Leila Lazaro, Vincent Laugel, Frederic Villega, Cyril Charlin, Solène Frismand, Marinha Costa Moreira, Tatiana Witjas, Christine Francannet, Ulrike Walther-Louvier, Mélanie Fradin, Brigitte Chabrol, Joel Fluss, Eric Bieth, Giovanni Castelnovo, Sylvain Vergnet, Isabelle Meunier, Alain Verloes, Elise Brischoux-Boucher, Christine Coubes, David Geneviève, Nicolas Lebouc, Jean Phillipe Azulay, Mathieu Anheim, Cyril Goizet, François Rivier, Pierre Labauge, Patrick Calvas, Michel Koenig
Genetics in Medicine. 2021-11-01
10.1038/s41436-021-01250-6

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Genetics in Medicine. 2021-10-01
10.1038/s41436-020-01064-y

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Laura Planas-Serra, Irene de la Calle, Miquel Raspall-Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estibaliz Barredo, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruiz, Agatha Schlüter, Isabelle Rouvet, Julia Sala-Coromina, Chiara Fossati, Maria Iascone, Francesco Canonico, Anna Marcé-Grau, Precilla de Souza, David R Adams, Carlos Casasnovas, Heidi L Rehm, Heather C Mefford, Luis González Gutierrez-Solana, Alfredo Brusco, Michel Koenig, Alfons Macaya, Aurora Pujol
Brain. 2021-08-20
10.1093/brain/awab124

SOD1-related ALS with anticipation in a large family from Martinique.
Anna-Gaelle Giguet-Valard, Rémi Bellance, Séverine Jeannin, Sophie Duclos, Pascale Olive, Oriane Allard-Saint-Albin, Cécile Cazeneuve, Fabienne Clot, Pittion-Vouyovitch Sophie, Thomas Barnetche, Juliette Smith-Ravin, Cyril Goizet
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 2021-03-23
10.1080/21678421.2021.1900870

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Anna R. Duncan, Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance Rodan, Jiahai Shi, Ann R. Seman, Emanuele Agolini, Antonio Novelli, Paolo Prontera, Maria J. Guillen Sacoto, Teresa Santiago-Sim, Aurélien Trimouille, Cyril Goizet, Mathilde Nizon, Ange-Line Bruel, Christophe Philippe, Patricia E. Grant, Monica H. Wojcik, Joan Stoler, Casie A. Genetti, Marieke F. van Dooren, Saskia M. Maas, Marielle Alders, Laurence Faivre, Arthur Sorlin, Grace Yoon, Binnaz Yalcin, Pankaj B. Agrawal
The American Journal of Human Genetics. 2020-12-01
10.1016/j.ajhg.2020.11.001

Late-onset presentation of neurometabolic diseases: diagnostic flowchart revisited.
Cyril Goizet
J Neurol Neurosurg Psychiatry. 2020-10-21
10.1136/jnnp-2020-324033

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M L van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L Bonkowsky, Coriene Catsman-Berrevoets, Pedro S Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak-Bialek, Ingeborg Krägeloh-Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atik, Brenda Banwell, William S Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klara Brozova, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice Fletcher, Maria Eugenia Garcia Garcia, Paolo Gasparini, Janina Gburek-Augustat, Dolores Gonzalez Moron, Aline Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M Hobson, A Micheil Innes, Marcelo Kauffman, Susan M Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, William McClintock, Meriel McEntagart, Fiona McKenzie, Serge Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando I Monton, Sebastien Moutton, Raymond P J Murphy, Miriam Nickel, Hüseyin Onay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Helio Pedro, Sandra Pekic, Mercedes Pineda Marfa, Amy Pizzino, Barbara Plecko, Bwee Tien Poll-The, Vera Popovic, Dietz Rating, Marie-France Rioux, Norberto Rodriguez Espinosa, Anne Ronan, John R Ostergaard, Elsa Rossignol, Rocio Sanchez-Carpintero, Anna Schossig, Nesrin Senbil, Laura K Sønderberg Roos, Cathy A Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P van de Warrenburg, Maria Vázquez-López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard I Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo S van der Knaap, Adeline Vanderver, Gabriel Á Martos-Moreno, Constantin Polychronakos, Nicole I Wolf, Geneviève Bernard
The Journal of Clinical Endocrinology & Metabolism. 2020-10-01
10.1210/clinem/dgaa700

MRI of neurodegeneration with brain iron accumulation.
Stéphane Lehéricy, Emmanuel Roze, Cyril Goizet, Fanny Mochel
Current Opinion in Neurology. 2020-08-01
10.1097/wco.0000000000000844

The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy.
Nicolas Junqua, Damien Legallois, Sophie Segard, Olivier Lairez, Patricia Réant, Cyril Goizet, Hélène Maillard, Philippe Charron, Paul Milliez, Fabien Labombarda
Archives of Cardiovascular Diseases. 2020-08-01
10.1016/j.acvd.2020.04.008

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders.
Daniele Mandia, Marion Plaze, Isabelle Le Ber, Claire Ewenczyk, Alexandre Morin, Guilhem Carle, Angèle Consoli, Adrian Degardin, Ali Amad, Caroline Moreau, Mathieu Anheim, Christine Tranchant, Nicolas Mélé, Carole Roue-Jagot, Julien Lagarde, Marie Sarazin, Lorraine Hamelin, Pierre Ellul, Cécile Pagan, Magali Pettazzoni, Soumeya Bekri, Serge Belliard, Cyril Goizet, David Wallon, Foudil Lamari, Yann Nadjar
J Neurol. 2020-06-26
10.1007/s00415-020-10020-4

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon Slegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska
Mol Genet Genomic Med. 2020-06-25
10.1002/mgg3.1388

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Laure Cayrefourcq, Marie-Claire Vincent, Sandra Pierredon, Céline Moutou, Marion Imbert-Bouteille, Emmanuelle Haquet, Jacques Puechberty, Marjolaine Willems, Cathy Liautard-Haag, Nicolas Molinari, Cécile Zordan, Virginie Dorian, Caroline Rooryck-Thambo, Cyril Goizet, Annabelle Chaussenot, Cécile Rouzier, Amandine Boureau-Wirth, Laetitia Monteil, Patrick Calvas, Claire Miry, Romain Favre, Yuliya Petrov, Philippe Khau Van Kien, Elsa Le Boette, Mélanie Fradin, Catherine Alix-Panabières, Claire Guissart
Sci Rep. 2020-06-17
10.1038/s41598-020-66923-9

A new phenotype of choreic syndrome associating severe freezing of gait and chorea
Brice Laurens, Claire Delleci, Cyril Goizet, Umberto Spampinato, Pierre Burbaud, Etienne Guillaud, Emma Bestaven, Dominique Guehl
Clin Case Rep. 2020-06-02
10.1002/ccr3.3008

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Majida Charif, Arnaud Chevrollier, Naïg Gueguen, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal, Vasily Smirnov, Sabine Defoort-Dhellemmes, Isabelle Drumare Bouvet, Cyril Goizet, Marcela Votruba, Neringa Jurkute, Patrick Yu-Wai-Man, Francesca Tagliavini, Leonardo Caporali, Chiara La Morgia, Valerio Carelli, Vincent Procaccio, Xavier Zanlonghi, Isabelle Meunier, Pascal Reynier, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers
Neurol Genet. 2020-05-20
10.1212/nxg.0000000000000428

Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping.
Patricia Réant, Emilie Testet, Amélie Reynaud, Catherine Bourque, Matthieu Michaud, Caroline Rooryck, Cyril Goizet, Didier Lacombe, Valérie de-Précigout, Jérôme Peyrou, Hubert Cochet, Stéphane Lafitte
Int J Cardiovasc Imaging. 2020-05-08
10.1007/s10554-020-01823-7

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Martin Chevarin, Yannis Duffourd, Rebecca A. Barnard, Sébastien Moutton, François Lecoquierre, Fatma Daoud, Paul Kuentz, Caroline Cabret, Julien Thevenon, Elodie Gautier, Patrick Callier, Judith St-Onge, Thibaud Jouan, Didier Lacombe, Marie Ange Delrue, Cyril Goizet, Fanny Morice-Picard, Julien Van-Gils, Arnold Munnich, Stanislas Lyonnet, Valérie Cormier-Daire, Geneviève Baujat, Muriel Holder, Florence Petit, Bruno Leheup, Sylvie Odent, Pierre-Simon Jouk, Gipsy Lopez, David Geneviève, Patrick Collignon, Dominique Martin-Coignard, Aurélia Jacquette, Laurence Perrin, Audrey Putoux, Elisabeth Sarrazin, Khadija Amarof, Isabelle Missotte, Christine Coubes, Sujatha Jagadeesh, Elisabetta Lapi, Florence Demurger, Alice Goldenberg, Martine Doco-Fenzy, Cyril Mignot, Delphine Héron, Nolwenn Jean-Marçais, Alice Masurel, Salima El Chehadeh, Nathalie Marle, Frédéric Huet, Christine Binquet, Gwenaëlle Collod-Beroud, Pauline Arnaud, Nadine Hanna, Catherine Boileau, Guillaume Jondeau, Robert Olaso, Doris Lechner, Charlotte Poe, Mirna Assoum, Virginie Carmignac, Laurence Duplomb, Frédéric Tran Mau-Them, Christophe Philippe, Antonio Vitobello, Ange-Line Bruel, Anne Boland, Jean-François Deleuze, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Brian J O'Roak, Laurence Faivre
J Med Genet. 2020-04-10
10.1136/jmedgenet-2019-106425

The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.
Pierre-François Pradat, , Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede, Claude Desnuelle
Orphanet J Rare Dis. 2020-04-10
10.1186/s13023-020-01366-z

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Simon Boussion, Fabienne Escande, Anne‐Sophie Jourdain, Thomas Smol, Perrine Brunelle, Céline Duhamel, Yves Alembik, Tania Attié‐Bitach, Geneviève Baujat, Anne Bazin, Maryse Bonnière, Philippe Carassou, Dominique Carles, Louise Devisme, Cyril Goizet, Alice Goldenberg, Sarah Grotto, Agnès Guichet, Pierre‐Simon Jouk, Laurence Loeuillet, Charlotte Mechler, Caroline Michot, Fanny Pelluard, Audrey Putoux, Sandra Whalen, Jamal Ghoumid, Sylvie Manouvrier‐Hanu, Florence Petit
Human Mutation. 2020-04-06
10.1002/humu.24021

Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1.
L. Prudhomme, C. Delleci, A. Trimouille, J.F. Chateil, O. Prodhomme, C. Goizet, J. Van Gils
European Journal of Medical Genetics. 2020-04-01
10.1016/j.ejmg.2019.103815

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.
Chloé Angelini, Marie Thibaud, Nathalie Aladjidi, Pierre Bessou, Sébastien Cabasson, Cindy Colson, Caroline Espil-Taris, Cyril Goizet, Marie Husson, Fanny Morice-Picard, Annachiara De Sandre-Giovannoli, Jean-Michel Pédespan
Neuropediatrics. 2020-03-06
10.1055/s-0040-1701671

Natural History of Adult Patients with GM2 Gangliosidosis.
Marion Masingue, Louis Dufour, Timothée Lenglet, Lisa Saleille, Cyril Goizet, Xavier Ayrignac, Fabienne Ory‐Magne, Magali Barth, Foudil Lamari, Daniele Mandia, Catherine Caillaud, Yann Nadjar
Ann Neurol. 2020-02-07
10.1002/ana.25689

Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
Hugo Bakis, Aurélien Trimouille, Agathe Vermorel, Isabelle Redonnet, Cyril Goizet, Romain Boulestreau, Didier Lacombe, Christian Combe, Marie‐Laure Martin‐Négrier, Claire Rigothier
Clin Genet. 2020-01-09
10.1111/cge.13670

Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K.
Julien Cassereau, Arnaud Chevrollier, Philippe Codron, Cyril Goizet, Naïg Gueguen, Christophe Verny, Pascal Reynier, Dominique Bonneau, Guy Lenaers, Vincent Procaccio
Experimental Neurology. 2020-01-01
10.1016/j.expneurol.2019.113069

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
J. Lerat, C. Magdelaine, A. Lunati, H. Dzugan, C. Dejoie, M. Rego, P. Beze Beyrie, E. Bieth, P. Calvas, P. Cintas, A. Delaubrier, F. Demurger, B. Gilbert-Dussardier, C. Goizet, H. Journel, F. Laffargue, L. Magy, F. Taithe, A. Toutain, J.A. Urtizberea, F. Sturtz, A.S. Lia
Journal of the Neurological Sciences. 2019-11-01
10.1016/j.jns.2019.06.027

Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.
Clémence Scappaticci, Julien Van-Gils, Simon Samaan, Pierre Bessou, Didier Lacombe, Jean-François Chateil, Jean-Michel Pedespan, Jean-Luc Saves, Odile Boespflug-Tanguy, Cyril Goizet
Pediatric Neurology. 2019-11-01
10.1016/j.pediatrneurol.2019.02.005

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Laurence Gauquelin, Ferdy K. Cayami, László Sztriha, Grace Yoon, Luan T. Tran, Kether Guerrero, François Hocke, Rosalina M.L. van Spaendonk, Eva L. Fung, Stefano D'Arrigo, Gessica Vasco, Isabelle Thiffault, Dmitriy M. Niyazov, Richard Person, Kara Stuart Lewis, Evangeline Wassmer, Trine Prescott, Penny Fallon, Meriel McEntagart, Julia Rankin, Richard Webster, Heike Philippi, Bart van de Warrenburg, Dagmar Timmann, Abhijit Dixit, Claire Searle, Nivedita Thakur, Michael C. Kruer, Suvasini Sharma, Adeline Vanderver, Davide Tonduti, Marjo S. van der Knaap, Enrico Bertini, Cyril Goizet, Sébastien Fribourg, Nicole I. Wolf, Geneviève Bernard,
Neurol Genet. 2019-10-30
10.1212/nxg.0000000000000369

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux, Léa Darnaud, Hélène Beauvais‐Dzugan, Steven Naud, Laurence Richard, Paco Derouault, Karima Ghorab, Laurent Magy, Jean‐Michel Vallat, Pascal Cintas, Eric Bieth, Marie‐Christine Arne‐Bes, Cyril Goizet, Caroline Espil‐Taris, Hubert Journel, Annick Toutain, Jon Andoni Urtizberea, Odile Boespflug‐Tanguy, Fanny Laffargue, Philippe Corcia, Laurent Pasquier, Mélanie Fradin, Sylva Napuri, Jonathan Ciron, Jean‐Marc Boulesteix, Franck Sturtz, Anne‐Sophie Lia
Mol Genet Genomic Med. 2019-08-08
10.1002/mgg3.839

Coexistence of schwannomatosis and glioblastoma in two families.
Caroline Deiller, Julien Van-Gils, Cécile Zordan, Julie Tinat, Hugues Loiseau, Thierry Fabre, Claire Delleci, Joëlle Cohen, Michel Vidaud, Béatrice Parfait, Cyril Goizet
European Journal of Medical Genetics. 2019-08-01
10.1016/j.ejmg.2019.103680

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.
Chloé Angelini, Julien Van Gils, Antoine Bigourdan, Pierre-Simon Jouk, Didier Lacombe, Patrice Menegon, Sébastien Moutton, Florence Riant, Guilhem Sole, Elisabeth Tournier-Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goizet
European Journal of Medical Genetics. 2019-06-01
10.1016/j.ejmg.2018.08.011

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification.
Uriel López-Sánchez, Gaël Nicolas, Anne-Claire Richard, David Maltête, Mahmoud Charif, Xavier Ayrignac, Cyril Goizet, Jawida Touhami, Gilles Labesse, Jean-Luc Battini, Marc Sitbon
Sci Rep. 2019-05-01
10.1038/s41598-019-43255-x

Disrupted filamin A/αIIbβ3 interaction induces macrothrombocytopenia by increasing RhoA activity.
Alessandro Donada, Nathalie Balayn, Dominika Sliwa, Larissa Lordier, Valentina Ceglia, Francesco Baschieri, Cyril Goizet, Rémi Favier, Lucie Tosca, Gérard Tachdjian, Cecile V. Denis, Isabelle Plo, William Vainchenker, Najet Debili, Jean-Philippe Rosa, Marijke Bryckaert, Hana Raslova
Blood. 2019-04-18
10.1182/blood-2018-07-861427

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.
Alessia Peretti, Maud Perie, Didier Vincent, Françoise Bouhour, Klaus Dieterich, Martial Mallaret, Fanny Duval, Cyril Goizet, Raul Juntas-Morales, Laurent Magy, Guilhem Solé, Sylvain Nollet, Adeline Not, Sarah Léonard-Louis, Bruno Francou, Eric Leguern, Anne-Sophie Lia, Corinne Magdelaine, Philippe Latour, Tanya Stojkovic
Eur J Hum Genet. 2019-04-17
10.1038/s41431-019-0403-8

Genetics of amyotrophic lateral sclerosis: A review.
Stéphane Mathis, Cyril Goizet, Antoine Soulages, Jean-Michel Vallat, Gwendal Le Masson
Journal of the Neurological Sciences. 2019-04-01
10.1016/j.jns.2019.02.030

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro, Jonathan Baets, Tine Deconinck, Peter DeJonghe, Paola Mandich, Giorgio Casari, Francesca Maltecca
J Med Genet. 2019-03-25
10.1136/jmedgenet-2018-105766

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Paul Bonnemason‐Carrere, Fanny Morice‐Picard, Perrine Pennamen, Benoit Arveiler, Patricia Fergelot, Cyril Goizet, Mélanie Hellegouarch, Didier Lacombe, Claudio Plaisant, Virginie Raclet, Caroline Rooryck, Eulalie Lasseaux, Aurélien Trimouille
Am J Med Genet. 2019-03-23
10.1002/ajmg.a.61127

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Catherine Garel, Sandra Chantot-Bastaraud, Elodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Heron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie-Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Burglen
Genetics in Medicine. 2019-03-01
10.1038/s41436-018-0089-2

Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study.
McNulty P, Pilcher R, Ramesh R, Necuiniate R, Hughes A, Farewell D, Holmans P, Jones L; REGISTRY Investigators of the European Huntington's Disease Network (incl. Cyril Goizet)
J Huntingtons Dis.. 2018
10.3233/jhd-170263

[Legal aspects of genetic testing for diagnostic purposes in France].
Cécile Zordan, Virginie Dorian, Laetitia Jameau, Cyril Goizet
Med Sci (Paris). 2018-11-01
10.1051/medsci/201834s204

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron
Orphanet J Rare Dis. 2018-10-01
10.1186/s13023-018-0913-4

Opening leads to closing: Allosteric crosstalk between the activation and inactivation gates in KcsA.
Lucie Delemotte
Journal of General Physiology. 2018-08-24
10.1085/jgp.201812161

Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.
Seda Seren, Maha Rashed Abouzaid, Claudia Eulenberg-Gustavus, Josefine Hirschfeld, Hala Nasr Soliman, Uwe Jerke, Koffi N'Guessan, Sandrine Dallet-Choisy, Adam Lesner, Conni Lauritzen, Beate Schacher, Peter Eickholz, Nikoletta Nagy, Marta Szell, Cécile Croix, Marie-Claude Viaud-Massuard, Abdullah Al Farraj Aldosari, Shivanna Ragunatha, Mostafa Ibrahim Mostafa, Francesca Giampieri, Maurizio Battino, Hélène Cornillier, Gérard Lorette, Jean-Louis Stephan, Cyril Goizet, John Pedersen, Francis Gauthier, Dieter E. Jenne, Sylvain Marchand-Adam, Iain L. Chapple, Ralph Kettritz, Brice Korkmaz
Journal of Biological Chemistry. 2018-08-01
10.1074/jbc.ra118.001922

Some new proposals for the classification of inherited myopathies.
Stéphane Mathis, Meriem Tazir, Guilhem Solé, Laurent Magy, Gwendal Le Masson, Philippe Couratier, Karima Ghorab, Fanny Duval, Idoia Lacoste, Cyril Goizet, Jean-Michel Vallat
Journal of the Neurological Sciences. 2018-08-01
10.1016/j.jns.2018.06.014

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
Reda Zenagui, Delphine Lacourt, Henri Pegeot, Kevin Yauy, Raul Juntas Morales, Corine Theze, François Rivier, Claude Cances, Guilhem Sole, Dimitri Renard, Ulrike Walther-Louvier, Xavier Ferrer-Monasterio, Caroline Espil, Marie-Christine Arné-Bes, Pascal Cintas, Emmanuelle Uro-Coste, Marie-Laure Martin Negrier, Valérie Rigau, Eric Bieth, Cyril Goizet, Mireille Claustres, Michel Koenig, Mireille Cossée
The Journal of Molecular Diagnostics. 2018-07-01
10.1016/j.jmoldx.2018.04.001

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.
Amytice Mirchi, Félixe Pelletier, Luan T. Tran, Stephanie Keller, Nancy Braverman, Davide Tonduti, Adeline Vanderver, Amy Pizzino, Marie-Emmanuelle Dilenge, Chantal Poulin, Michael Shevell, Annette Majnemer, Guillaume Sébire, Myriam Srour, Bradley Osterman, Renée-Myriam Boucher, Michel Vanasse, Elsa Rossignol, John Mitchell, Sunita Venkateswaran, Daniela Pohl, Marcelo Kauffman, Raphael Schiffmann, Cyril Goizet, Sebastien Moutton, Federico Roncarolo, Geneviève Bernard
Pediatric Neurology. 2018-07-01
10.1016/j.pediatrneurol.2018.03.015

Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Eliana Marisa Ramos, , Miryam Carecchio, Roberta Lemos, Joana Ferreira, Andrea Legati, Renee Louise Sears, Sandy Chan Hsu, Celeste Panteghini, Luca Magistrelli, Ettore Salsano, Silvia Esposito, Franco Taroni, Anne-Claire Richard, Christine Tranchant, Mathieu Anheim, Xavier Ayrignac, Cyril Goizet, Marie Vidailhet, David Maltete, David Wallon, Thierry Frebourg, Lylyan Pimentel, Daniel H. Geschwind, Olivier Vanakker, Douglas Galasko, Brent L. Fogel, A Micheil Innes, Alison Ross, William B. Dobyns, Diana Alcantara, Mark O’Driscoll, Didier Hannequin, Dominique Campion, João R. Oliveira, Barbara Garavaglia, Giovanni Coppola, Gaël Nicolas
Eur J Hum Genet. 2018-06-28
10.1038/s41431-018-0185-4

Non-specific gastrointestinal features: Could it be Fabry disease?
Max J. Hilz, Eloisa Arbustini, Lorenzo Dagna, Antonio Gasbarrini, Cyril Goizet, Didier Lacombe, Rocco Liguori, Raffaele Manna, Juan Politei, Marco Spada, Alessandro Burlina
Digestive and Liver Disease. 2018-05-01
10.1016/j.dld.2018.02.011

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.
S. Moutton, A.-L. Bruel, M. Assoum, M. Chevarin, E. Sarrazin, C. Goizet, A.-M. Guerrot, A. Charollais, P. Charles, D. Heron, A. Faudet, N. Houcinat, A. Vitobello, F. Tran-Mau-Them, C. Philippe, Y. Duffourd, C. Thauvin-Robinet, L. Faivre
Clinical Genetics. 2018-04-14
10.1111/cge.13243

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh
J Med Genet. 2018-04-04
10.1136/jmedgenet-2017-104956

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, Diana Rodriguez, Rabab Debs, Perrine Charles, Malika Chaouch, Farida Ferrat, Chloé Laurencin, Laurent Vercueil, Martial Mallaret, Abderrahim M’Zahem, Lamia Ali Pacha, Meriem Tazir, Caroline Tilikete, Elisabeth Ollagnon, François Ochsner, Thierry Kuntzer, Hans H. Jung, Jean-Marie Beis, Jean-Claude Netter, Atbin Djamshidian, Mattew Bower, Armand Bottani, Richard Walsh, Sinead Murphy, Thomas Reiley, Éric Bieth, Filip Roelens, Bwee Tien Poll-The, Charles Marques Lourenço, Laura Bannach Jardim, Rachel Straussberg, Pierre Landrieu, Emmanuel Roze, Stéphane Thobois, Jean Pouget, Claire Guissart, Cyril Goizet, Alexandra Dürr, Christine Tranchant, Michel Koenig, Mathieu Anheim
JAMA Neurol. 2018-04-01
10.1001/jamaneurol.2017.4373

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Camille Louvrier, Eric Pasmant, Audrey Briand-Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait
Neuro-Oncology. 2018-02-02
10.1093/neuonc/noy009

Updating the classification of inherited neuropathies: Results of an international survey.
Laurent Magy, Stéphane Mathis, Gwendal Le Masson, Cyril Goizet, Meriem Tazir, Jean-Michel Vallat
Neurology. 2018-02-02
10.1212/wnl.0000000000005074

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers
Neurol Genet. 2018-01-24
10.1212/nxg.0000000000000217

History and current difficulties in classifying inherited myopathies and muscular dystrophies.
Stéphane Mathis, Meriem Tazir, Laurent Magy, Fanny Duval, Gwendal Le Masson, Mathilde Duchesne, Philippe Couratier, Karima Ghorab, Guilhem Solé, Idoia Lacoste, Cyril Goizet, Jean-Michel Vallat
Journal of the Neurological Sciences. 2018-01-01
10.1016/j.jns.2017.10.051

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Christelle M. Durand, Laura Dhers, Christelle Tesson, Alessandra Tessa, Laetitia Fouillen, Stéphanie Jacqueré, Laure Raymond, Isabelle Coupry, Giovanni Benard, Frédéric Darios, Khalid H. El- Hachimi, Guja Astrea, François Rivier, Guillaume Banneau, Claire Pujol, Didier Lacombe, Alexandra Durr, Patrick J. Babin, Filippo M. Santorelli, Nicolas Pietrancosta, Jean-Luc Boucher, Daniel Mansuy, Giovanni Stevanin, Cyril Goizet
Human Mutation. 2017-11-11
10.1002/humu.23359

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
Alice Kuster, , Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Cyril Goizet, Bérénice Doray, Stéphanie Gobin, Manuel Schiff, Aline Cano, Daniel Amsallem, Christine Barnerias, Boris Chaumette, Marion Plaze, Abdelhamid Slama, Christine Ioos, Isabelle Desguerre, Anne-Sophie Lebre, Pascale de Lonlay, Laurence Christa
J Inherit Metab Dis. 2017-09-18
10.1007/s10545-017-0079-6

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.
Davina J Hensman Moss, Antonio F Pardiñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, Peter Holmans, Lesley Jones, Sarah J Tabrizi, A Coleman, R Dar Santos, J Decolongon, A Sturrock, E Bardinet, C Jauff Ret, D Justo, S Lehericy, C Marelli, K Nigaud, R Valabrègue, SJA van den Bogaard, E M Dumas, J van der Grond, EP t'Hart, C Jurgens, M-N Witjes-Ane, N Arran, J Callaghan, C Stopford, C Frost, R Jones, N Hobbs, N Lahiri, R Ordidge, G Owen, T Pepple, J Read, M Say, E Wild, A Patel, N C Fox, C Gibbard, I Malone, H Crawford, D Whitehead, S Keenan, D M Cash, C Berna, N Bechtel, S Bohlen, A Hoff Man, P Kraus, E Axelson, C Wang, T Acharya, S Lee, W Monaco, C Campbell, S Queller, K Whitlock, M Campbell, E Frajman, C Milchman, A O'Regan, I Labuschagne, J Stout, B Landwehrmeyer, D Craufurd, R Scahill, S Hicks, C Kennard, H Johnson, A Tobin, HD Rosas, R Reilmann, B Borowsky, C Pourchot, S C Andrews, Anne-Catherine Bachoud-Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael Bonelli, Jean-Marc Burgunder, Stephen Dunnett, Joaquim Ferreira, Olivia Handley, Arvid Heiberg, Torsten Illmann, G. Bernhard Landwehrmeyer, Jamie Levey, Maria A. Ramos-Arroyo, Jørgen Nielsen, Susana Pro Koivisto, Markku Päivärinta, Raymund A.C. Roos, A Rojo Sebastián, Sarah Tabrizi, Wim Vandenberghe, Christine Verellen-Dumoulin, Tereza Uhrova, Jan Wahlström, Jacek Zaremba, Verena Baake, Katrin Barth, Monica Bascuñana Garde, Sabrina Betz, Reineke Bos, Jenny Callaghan, Adrien Come, Leonor Correia Guedes, Daniel Ecker, Ana Maria Finisterra, Ruth Fullam, Mette Gilling, Lena Gustafsson, Olivia J Handley, Carina Hvalstedt, Christine Held, Kerstin Koppers, Claudia Lamanna, Matilde Laurà, Asunción Martínez Descals, Saül Martinez-Horta, Tiago Mestre, Sara Minster, Daniela Monza, Lisanne Mütze, Martin Oehmen, Michael Orth, Hélène Padieu, Laurent Paterski, Nadia Peppa, Martina Di Renzo, Amandine Rialland, Niini Røren, Pavla Šašinková, Erika Timewell, Jenny Townhill, Patricia Trigo Cubillo, Wildson Vieira da Silva, Marleen R van Walsem, Carina Whalstedt, Marie-Noelle Witjes-Ané, Grzegorz Witkowski, Abigail Wright, Daniel Zielonka, Eugeniusz Zielonka, Paola Zinzi, Raphael M. Bonelli, Sabine Lilek, Karen Hecht, Brigitte Herranhof, Anna Holl, Hans-Peter Kapfhammer, Michael Koppitz, Markus Magnet, Nicole Müller, Daniela Otti, Annamaria Painold, Karin Reisinger, Monika Scheibl, Helmut Schöggl, Jasmin Ullah, Eva-Maria Braunwarth, Florian Brugger, Lisa Buratti, Eva-Maria Hametner, Caroline Hepperger, Christiane Holas, Anna Hotter, Anna Hussl, Christoph Müller, Werner Poewe, Klaus Seppi, Fabienne Sprenger, Gregor Wenning, Andrea Boogaerts, Godelinde Calmeyn, Isabelle Delvaux, Dirk Liessens, Nele Somers, Michel Dupuit, Cécile Minet, Dominique van Paemel, Pascale Ribaï, Dimphna van Reijen, Jirí Klempír, Veronika Majerová, Jan Roth, Irena Stárková, Lena E. Hjermind, Oda Jacobsen, Jørgen E. Nielsen, Ida Unmack Larsen, Tua Vinther-Jensen, Heli Hiivola, Hannele Hyppönen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau, Marie Bost, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Adriana Prundean, Clarisse Scherer-Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Rekha Barthélémy, Christelle De Bruycker, Maryline Cabaret Anne-Sophie Carette, Eric Decorte Luc Defebvre, Marie Delliaux, Arnaud Delval, Alain Destee, Kathy Dujardin, Marie-Hélène Lemaire, Sylvie Manouvrier, Mireille Peter, Lucie Plomhouse, Bernard Sablonnière, Clémence Simonin, Stéphanie Thibault-Tanchou, Isabelle Vuillaume, Marcellin Bellonet, Hassan Berrissoul, Stéphanie Blin, Françoise Courtin, Cécile Duru, Véronique Fasquel, Olivier Godefroy, Pierre Krystkowiak, Béatrice Mantaux, Martine Roussel, Sandrine Wannepain, Jean-Philippe Azulay, Marie Delfini, Alexandre Eusebio, Frédérique Fluchere, Laura Mundler, Mathieu Anheim, Celine Julié, Ouhaid Lagha Boukbiza, Nadine Longato, Gabrielle Rudolf, Christine Tranchant, Marie-Agathe Zimmermann, Christoph Michael Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Sass, Johannes Schiefer, Christiane Schlangen, Cornelius J. Werner, Harald Gelderblom, Josef Priller, Harald Prüß, Eike Jakob Spruth, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara Kaminski, Peter Kotz, Christian Prehn, Carsten Saft, Herwig Lange, Robert Maiwald, Matthias Löhle, Antonia Maass, Simone Schmidt, Cecile Bosredon, Alexander Storch, Annett Wolz, Martin Wolz, Philipp Capetian, Johann Lambeck, Birgit Zucker, Kai Boelmans, Christos Ganos, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Heike Gorzolla, Christoph Schrader, Pawel Tacik, Michael Ribbat, Bernhard Longinus, Katrin Bürk, Jens Carsten Möller, Ida Rissling, Mark Mühlau, Alexander Peinemann, Michael Städtler, Adolf Weindl, Juliane Winkelmann, Cornelia Ziegler, Natalie Bechtel, Heike Beckmann, Stefan Bohlen, Eva Hölzner, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Natalia Weber, Matthias Dose, Gabriele Leythäuser, Ralf Marquard, Tina Raab, Alexandra Wiedemann, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Bernhard Landwehrmeyer, Christina Lang, Franziska Lezius, Solveig Nepper, Anke Niess, Ariane Schneider, Daniela Schwenk, Sigurd Süßmuth, Sonja Trautmann, Patrick Weydt, Claudia Cormio, Vittorio Sciruicchio, Claudia Serpino, Marina de Tommaso, Sabina Capellari, Pietro Cortelli, Roberto Galassi, Giovanni Rizzo, Roberto Poda, Cesa Scaglione, Elisabetta Bertini, Elena Ghelli, Andrea Ginestroni, Francesca Massaro, Claudia Mechi, Marco Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giovanni Abbruzzese, Monica Bandettini di Poggio, Giovanna Ferrandes, Paola Mandich, Roberta Marchese, Alberto Albanese, Daniela Di Bella, Anna Castaldo, Stefano Di Donato, Cinzia Gellera, Silvia Genitrini, Caterina Mariotti, Lorenzo Nanetti, Dominga Paridi, Paola Soliveri, Chiara Tomasello, Giuseppe De Michele, Luigi Di Maio, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Elena Salvatore, Pierpaolo Sorrentino, Enrico Amico, Mariagrazia Favellato, Annamaria Griguoli, Irene Mazzante, Martina Petrollini, Ferdinando Squitieri, Barbara D'Alessio, Chiara Esposito, Rita Bentivoglio, Marina Frontali, Arianna Guidubaldi, Tamara Ialongo, Gioia Jacopini, Carla Piano, Silvia Romano, Francesco Soleti, Maria Spadaro, Monique S.E. van Hout, Marloes E. Verhoeven, Jeroen P.P. van Vugt, A. Marit de Weert, J.J.W. Bolwijn, M. Dekker, B. Kremer, K.L. Leenders, J.C.H. van Oostrom, Simon J.A. van den Bogaard, Eve M. Dumas, Ellen P. 't Hart, Berry Kremer, C.C.P. Verstappen, Olaf Aaserud, Jan Frich C, Ragnhild Wehus, Kathrine Bjørgo, Madeleine Fannemel, Per F. Gørvell, Eirin Lorentzen, Lars Retterstøl, Bodil Stokke, Inga Bjørnevoll, Sigrid Botne Sando, Artur Dziadkiewicz, Malgorzata Nowak, Piotr Robowski, Emilia Sitek, Jaroslaw Slawek, Witold Soltan, Michal Szinwelski, Magdalena Blaszcyk, Magdalena Boczarska-Jedynak, Ewelina Ciach-Wysocka, Agnieszka Gorzkowska, Barbara Jasinska-Myga, Gabriela Klodowska-Duda, Gregorz Opala, Daniel Stompel, Krzysztof Banaszkiewicz, Dorota Bocwinska, Kamila Bojakowska-Jaremek, Malgorzata Dec, Malgorzata Krawczyk, Monika Rudzinska, Elzbieta Szczygiel, Andrzej Szczudlik, Anna Wasielewska, Magdalena Wójcik, Anna Bryl, Anna Ciesielska, Aneta Klimberg, Jerzy Marcinkowski, Husam Samara, Justyna Sempolowicz, Anna Gogol, Piotr Janik, Hubert Kwiecinski, Zygmunt Jamrozik, Jakub Antczak, Katarzyna Jachinska, Wioletta Krysa, Maryla Rakowicz, Przemyslaw Richter, Rafal Rola, Danuta Ryglewicz, Halina Sienkiewicz-Jarosz, Iwona Stepniak, Anna Sulek, Elzbieta Zdzienicka, Karolina Zieora-Jakutowicz, Joaquim J Ferreira, Miguel Coelho, Tiago Mendes, Anabela Valadas, Carlos Andrade, Miguel Gago, Carolina Garrett, Maria Rosália Guerra, Carmen Durán Herrera, Patrocinio Moreno Garcia, Miquel Aguilar Barbera, Dolors Badenes Guia, Laura Casas Hernanz, Judit López Catena, Pilar Quiléz Ferrer, Ana Rojo Sebastián, Gemma Tome Carruesco, Jordi Bas, Núria Busquets, Matilde Calopa, Misericordia Floriach Robert, Celia Mareca Viladrich, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Esther Cubo, Cecilia Gil Polo, Natividad Mariscal, Perez Jessica Rivadeneyra, Francisco Barrero, Blas Morales, María Fenollar, Rocío García-Ramos García, Paloma Ortega, Clara Villanueva, Javier Alegre, Mónica Bascuñana, Juan Garcia Caldentey, Marta Fatás Ventura, Guillermo García Ribas, Justo García de Yébenes, José Luis López-Sendón Moreno, Fernando Alonso Frech, Pedro J García Ruíz, Asunción Martínez-Descals, Rosa Guerrero, María José Saiz Artiga, Vicenta Sánchez, María Fuensanta Noguera Perea, Lorenza Fortuna, Salvadora Manzanares, Gema Reinante, María Martirio Antequera Torres, Laura Vivancos Moreau, Sonia González González, Luis Menéndez Guisasola, Carlos Salvador, Esther Suaréz San Martín, Inés Legarda Ramirez, Aranzazú Gorospe, Mónica Rodriguez Lopera, Penelope Navas Arques, María José Torres Rodríguez, Barbara Vives Pastor, Itziar Gaston, Maria Dolores Martinez-Jaurrieta, Jose Manuel Garcia Moreno, Carolina Mendez Lucena, Fatima Damas, Hermoso Eva Pacheco Cortegana, José Chacón Peña, Luis Redondo, Fátima Carrillo, María Teresa Cáceres, Pablo Mir, María José Lama Suarez, Laura Vargas-González, Maria E. Bosca, Francisco Castera Brugada, Juan Andres Burguera, Anabel Campos, Garcia Carmen Peiró Vilaplana, Peter Berglund, Radu Constantinescu, Gunnel Fredlund, Ulrika Høsterey-Ugander, Petra Linnsand, Liselotte Neleborn-Lingefjärd, Magnus Wentzel, Ghada Loutfi, Carina Olofsson, Eva-Lena Stattin, Laila Westman, Birgitta Wikström, Yanik Stebler, Alain Kaelin, Irene Romero, Michael Schüpbach, Sabine Weber Zaugg, Maria Hauer, Roman Gonzenbach, Hans H. Jung, Violeta Mihaylova, Jens Petersen, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, Daniela Rae, Sheila A Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughan, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Matthew Armstrong, Roger A. Barker, Deidre O'Keefe, Anna Di Pietro, Kate Fisher, Anna Goodman, Susan Hill, Ann Kershaw, Sarah Mason, Nicole Paterson, Lucy Raymond, Rachel Swain, Natalie Valle Guzman, Monica Busse, Cynthia Butcher, Catherine Clenaghan, Sarah Hunt, Una Jones, Hanan Khalil, Michael Owen, Kathleen Price, Anne Rosser, Maureen Edwards, Carrie Ho, Teresa Hughes, Marie McGill, Pauline Pearson, Mary Porteous, Paul Smith, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Liz Burrows, Carol Chu, Amy Fletcher, Deena Gallantrae, Stephanie Hamer, Alison Harding, Stefan Klöppel, Alison Kraus, Fiona Laver, Monica Lewis, Mandy Longthorpe, Ivana Markova, Ashok Raman, Nicola Robertson, Mark Silva, Aileen Thomson, Sue Wild, Pam Yardumian, Carole Evans, Deena Gallentrae, Emma Hobson, Stuart Jamieson, Hannah Musgrave, Liz Rowett, Jean Toscano, Colin Bourne, Jackie Clapton, Carole Clayton, Heather Dipple, Dawn Freire-Patino, Janet Grant, Diana Gross, Caroline Hallam, Julia Middleton, Ann Murch, Catherine Thompson, Sundus Alusi, Rhys Davies, Kevin Foy, Emily Gerrans, Louise Pate, Thomasin Andrews, Andrew Dougherty, Charlotte Golding, Fred Kavalier, Hana Laing, Alison Lashwood, Dene Robertson, Deborah Ruddy, Alastair Santhouse, Anna Whaite, Stefania Bruno, Karen Doherty, Salman Haider, Davina Hensman, Nayana Lahiri, Marianne Novak, Aakta Patel, Elisabeth Rosser, Rachel Taylor, Thomas Warner, Edward Wild, Natalie Arran, Judith Bek, David Craufurd, Marianne Hare, Liz Howard, Susan Huson, Liz Johnson, Mary Jones, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Dawn Rogers, Andrea Sollom, Julie Snowden, Cheryl Stopford, Jennifer Thompson, Iris Trender-Gerhard, Nichola Verstraelen, Leann Westmoreland, Richard Armstrong, Kathryn Dixon, Andrea H Nemeth, Gill Siuda, Ruth Valentine, David Harrison, Max Hughes, Andrew Parkinson, Beverley Soltysiak, Oliver Bandmann, Alyson Bradbury, Paul Gill, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Mbombe Kazoka, Kirsty O'Donovan, Cat Taylor, Katherine Tidswell, Oliver Quarrell, Puay Ngoh Lau, Emmanul Pica, Louis Tan
The Lancet Neurology. 2017-09-01
10.1016/s1474-4422(17)30161-8

Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation.
Eliane Berrou, Frédéric Adam, Marilyne Lebret, Virginie Planche, Patricia Fergelot, Odile Issertial, Isabelle Coupry, Jean-Claude Bordet, Paquita Nurden, Dominique Bonneau, Estelle Colin, Cyril Goizet, Jean-Philippe Rosa, Marijke Bryckaert
ATVB. 2017-06-01
10.1161/atvbaha.117.309337

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
N. Lehman, A.C. Mazery, A. Visier, C. Baumann, D. Lachesnais, Y. Capri, A. Toutain, S. Odent, M. Mikaty, C. Goizet, E. Taupiac, M.L. Jacquemont, E. Sanchez, E. Schaefer, V. Gatinois, L. Faivre, D. Minot, H. Kayirangwa, K.-H.L.Q. Sang, N. Boddaert, S. Bayard, D. Lacombe, S. Moutton, I. Touitou, M. Rio, J. Amiel, S. Lyonnet, D. Sanlaville, M.C. Picot, D. Geneviève
Clin Genet. 2017-05-18
10.1111/cge.13010

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].
O. Lidove, N. Belmatoug, R. Froissart, C. Lavigne, I. Durieu, K. Mazodier, C. Serratrice, C. Douillard, C. Goizet, P. Cathebras, G. Besson, Z. Amoura, A. Tazi, M. Gatfossé, S. Rivière, T. Sené, M.T. Vanier, J.-M. Ziza
La Revue de Médecine Interne. 2017-05-01
10.1016/j.revmed.2016.10.387

A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease.
Christophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, Cyril Goizet, Jean-Philippe Azulay, Clémence Simonin, Christine Tranchant, Fabienne Calvas, Pierre Krystkowiak, Perrine Charles, Katia Youssov, Clarisse Scherer, Adriana Prundean, Audrey Olivier, Pascal Reynier, Frédéric Saudou, Patrick Maison, Philippe Allain, Erica von Studnitz, Dominique Bonneau,
Mov Disord.. 2017-04-24
10.1002/mds.27010

Neutrophil-derived mitochondrial DNA promotes receptor activator of nuclear factor κB and its ligand signalling in rheumatoid arthritis.
Anne Contis, Stéphane Mitrovic, Julie Lavie, Isabelle Douchet, Estibaliz Lazaro, Marie-Elise Truchetet, Cyril Goizet, Cécile Contin-Bordes, Thierry Schaeverbeke, Patrick Blanco, Rodrigue Rossignol, Benjamin Faustin, Christophe Richez, Pierre Duffau
Rheumatology. 2017-03-13
10.1093/rheumatology/kex041

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
S. Nambot, D. Gavrilov, J. Thevenon, A.L. Bruel, M. Bainbridge, M. Rio, C. Goizet, A. Rötig, J. Jaeken, N. Niu, F. Xia, A. Vital, N. Houcinat, F. Mochel, P. Kuentz, D. Lehalle, Y. Duffourd, J.B. Rivière, C. Thauvin-Robinet, A.L. Beaudet, L. Faivre
Clin Genet. 2017-03-01
10.1111/cge.12985

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Andoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, Yann Péréon, Elias Adriaenssens, Mansour Haidar, Simona Capponi, Thierry Maisonobe, Emmanuel Fournier, Odile Dubourg, Bertrand Degos, François Salachas, Timothée Lenglet, Bruno Eymard, Emilien Delmont, Jean Pouget, Raul Juntas Morales, Cyril Goizet, Philippe Latour, Vincent Timmerman, Tanya Stojkovic
Human Mutation. 2017-02-25
10.1002/humu.23189

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D. Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J. Babin
Neurobiology of Disease. 2017-02-01
10.1016/j.nbd.2016.11.008

Efficacy and safety of propranolol for epistaxis in hereditary haemorrhagic telangiectasia: retrospective, then prospective study, in a total of 21 patients.
A. Contis, N. Gensous, J.F. Viallard, C. Goizet, C. Léauté-Labrèze, P. Duffau
Clin Otolaryngol. 2017-01-20
10.1111/coa.12821

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Justine Lerat, Laurence Jonard, Natalie Loundon, Sophie Christin-Maitre, Didier Lacombe, Cyril Goizet, Cécile Rouzier, Lionel Van Maldergem, Souad Gherbi, Eréa-Nöel Garabedian, Jean- Paul Bonnefont, Philippe Touraine, Isabelle Mosnier, Arnold Munnich, Françoise Denoyelle, Sandrine Marlin
Human Mutation. 2016-10-07
10.1002/humu.23120

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression.
Ruth de Diego-Balaguer, Catherine Schramm, Isabelle Rebeix, Emmanuel Dupoux, Alexandra Durr, Alexis Brice, Perrine Charles, Laurent Cleret de Langavant, Katia Youssov, Christophe Verny, Vincent Damotte, Jean-Philippe Azulay, Cyril Goizet, Clémence Simonin, Christine Tranchant, Patrick Maison, Amandine Rialland, David Schmitz, Charlotte Jacquemot, Bertrand Fontaine, Anne-Catherine Bachoud-Lévi,
PLoS ONE. 2016-09-22
10.1371/journal.pone.0161106

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Cecilia Marelli, Claire Guissart, Cecile Hubsch, Mathilde Renaud, Jean-Philippe Villemin, Lise Larrieu, Perrine Charles, Xavier Ayrignac, Sabrina Sacconi, Patrick Collignon, Danielle Cuntz-Shadfar, Laurine Perrin, Anelia Benarrosh, Adrian Degardin, Ouhaïd Lagha-Boukbiza, Eugenie Mutez, Bertrand Carlander, Raul Juntas Morales, Victoria Gonzalez, Clarisse Carra-Dalliere, Souhayla Azakri, Claude Mignard, Elisabeth Ollagnon, Nicolas Pageot, Dominique Chretien, Christian Geny, Jean-Philippe Azulay, Christine Tranchant, Mireille Claustres, Pierre Labauge, Mathieu Anheim, Cyril Goizet, Patrick Calvas, Michel Koenig
Human Mutation. 2016-09-02
10.1002/humu.23063

Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T.
Stéphane Mathis, Cyril Goizet, Meriem Tazir, Laurent Magy, Jean‐Michel Vallat
Ann Neurol.. 2016-08-04
10.1002/ana.24741

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Marie T. Vanier, Paul Gissen, Peter Bauer, Maria J. Coll, Alberto Burlina, Christian J. Hendriksz, Philippe Latour, Cyril Goizet, Richard W.D. Welford, Thorsten Marquardt, Stefan A. Kolb
Molecular Genetics and Metabolism. 2016-08-01
10.1016/j.ymgme.2016.06.004

Clinical manifestations of intermediate allele carriers in Huntington disease.
Esther Cubo, María A. Ramos-Arroyo, Saul Martinez-Horta, Asunción Martínez-Descalls, Sara Calvo, Cecilia Gil-Polo
Neurology. 2016-07-08
10.1212/wnl.0000000000002944

Classifications of neurogenetic diseases: An increasingly complex problem.
J.-M. Vallat, C. Goizet, M. Tazir, P. Couratier, L. Magy, S. Mathis
Revue Neurologique. 2016-06-01
10.1016/j.neurol.2016.04.005

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Sébastien Moutton, Patricia Fergelot, Sophie Naudion, Marie-Pierre Cordier, Guilhem Solé, Elodie Guerineau, Christophe Hubert, Caroline Rooryck, Marie-Laure Vuillaume, Nada Houcinat, Julie Deforges, Julie Bouron, Sylvie Devès, Martine Le Merrer, Albert David, David Geneviève, Fabienne Giuliano, Hubert Journel, André Megarbane, Laurence Faivre, Nicolas Chassaing, Christine Francannet, Elisabeth Sarrazin, Eva-Lena Stattin, Jacqueline Vigneron, Danielle Leclair, Caroline Abadie, Pierre Sarda, Clarisse Baumann, Marie-Ange Delrue, Benoit Arveiler, Didier Lacombe, Cyril Goizet, Isabelle Coupry
J Hum Genet. 2016-05-19
10.1038/jhg.2016.37

ABCA7 rare variants and Alzheimer disease risk.
Kilan Le Guennec, Gaël Nicolas, Olivier Quenez, Camille Charbonnier, David Wallon, Céline Bellenguez, Benjamin Grenier-Boley, Stéphane Rousseau, Anne-Claire Richard, Anne Rovelet-Lecrux, Delphine Bacq, Jean-Guillaume Garnier, Robert Olaso, Anne Boland, Vincent Meyer, Jean-François Deleuze, Philippe Amouyel, Hans Markus Munter, Guillaume Bourque, Mark Lathrop, Thierry Frebourg, Richard Redon, Luc Letenneur, Jean-François Dartigues, Florence Pasquier, Adeline Rollin-Sillaire, Emmanuelle Génin, Jean-Charles Lambert, Didier Hannequin, Dominique Campion
Neurology. 2016-04-01
10.1212/wnl.0000000000002627

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.
Juan M. Politei, Didier Bouhassira, Dominique P. Germain, Cyril Goizet, Antonio Guerrero‐Sola, Max J. Hilz, Elspeth J. Hutton, Amel Karaa, Rocco Liguori, Nurcan Üçeyler, Lonnie K. Zeltzer, Alessandro Burlina
CNS Neurosci Ther. 2016-03-28
10.1111/cns.12542

Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.
Yveline Hamon, Monika Legowska, Patricia Fergelot, Sandrine Dallet-Choisy, Louise Newell, Lise Vanderlynden, Ali Kord Valeshabad, Karina Acrich, Hadi Kord, Charalampos Tsamakis, Fanny Morice-Picard, Ian Surplice, Jerome Zoidakis, Karen David, Antonia Vlahou, Shivanna Ragunatha, Nikoletta Nagy, Katalin Farkas, Márta Széll, Cyril Goizet, Beate Schacher, Maurizio Battino, Abdullah Al Farraj Aldosari, Xinwen Wang, Yang Liu, Sylvain Marchand-Adam, Adam Lesner, Elodie Kara, Sevil Korkmaz-Icöz, Celia Moss, Peter Eickholz, Alain Taieb, Salih Kavukcu, Dieter E. Jenne, Francis Gauthier, Brice Korkmaz
FEBS J. 2016-01-04
10.1111/febs.13605

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain, Anne Dieux-Coeslier, Sylvie Manouvrier, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Valérie Layet, Sophie Naudion, Sylvie Odent, Laurent Pasquier, Sybille Pelras, Nicole Philip, Geneviève Pierquin, Fabienne Prieur, Nisrine Aboussair, Tania Attie-Bitach, Geneviève Baujat, Patricia Blanchet, Catherine Blanchet, Hélène Dollfus, Bérénice Doray, Elise Schaefer, Patrick Edery, Fabienne Giuliano, Alice Goldenberg, Cyril Goizet, Agnès Guichet, Christian Herlin, Laetitia Lambert, Bruno Leheup, Jelena Martinovic, Sandra Mercier, Cyril Mignot, Marie-Laure Moutard, Marie-José Perez, Lucile Pinson, Jacques Puechberty, Marjolaine Willems, Hanitra Randrianaivo, Kateline Szaskon, Annick Toutain, Alain Verloes, Jacqueline Vigneron, Elodie Sanchez, Pierre Sarda, Jean-Louis Laplanche, Corinne Collet
Genetics in Medicine. 2016-01-01
10.1038/gim.2015.29

How to Capitalize on the Retest Effect in Future Trials on Huntington's Disease.
Catherine Schramm, Sandrine Katsahian, Katia Youssov, Jean-François Démonet, Pierre Krystkowiak, Frédéric Supiot, Christophe Verny, Laurent Cleret de Langavant, Anne-Catherine Bachoud-Lévi,
PLoS ONE. 2015-12-29
10.1371/journal.pone.0145842

Too many numbers and complexity: time to update the classifications of neurogenetic disorders?
Jean-Michel Vallat, Cyril Goizet, Laurent Magy, Stéphane Mathis
J Med Genet. 2015-10-30
10.1136/jmedgenet-2015-103477

Fetal phenotypes in otopalatodigital spectrum disorders.
S. Naudion, S. Moutton, I. Coupry, G. Sole, J. Deforges, E. Guerineau, C. Hubert, S. Deves, J. Pilliod, C. Rooryck, C. Abel, F. Le Breton, S. Collardeau-Frachon, M.P. Cordier, A.L. Delezoide, A. Goldenberg, P. Loget, J. Melki, S. Odent, S. Patrier, A. Verloes, G. Viot, S. Blesson, B. Bessières, D. Lacombe, B. Arveiler, C. Goizet, P. Fergelot
Clin Genet. 2015-10-29
10.1111/cge.12679

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Majida Charif, Agathe Roubertie, Sara Salime, Sonia Mamouni, Cyril Goizet, Christian P. Hamel, Guy Lenaers
Front. Genet.. 2015-10-19
10.3389/fgene.2015.00311

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
Nouriya A. Al-Sannaa, Luisa Bay, Deborah S. Barbouth, Youssef Benhayoun, Cyril Goizet, Norberto Guelbert, Simon A. Jones, Sandra Obikawa Kyosen, Ana Maria Martins, Chanika Phornphutkul, Celia Reig, Rebecca Pleat, Shari Fallet, Iva Ivanovska Holder
Orphanet J Rare Dis. 2015-10-07
10.1186/s13023-015-0344-4

Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.
Stéphane Mathis, Cyril Goizet, Meriem Tazir, Corinne Magdelaine, Anne-Sophie Lia, Laurent Magy, Jean-Michel Vallat
J Med Genet. 2015-08-05
10.1136/jmedgenet-2015-103272

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Isabelle Thiffault, Nicole I. Wolf, Diane Forget, Kether Guerrero, Luan T. Tran, Karine Choquet, Mathieu Lavallée-Adam, Christian Poitras, Bernard Brais, Grace Yoon, Laszlo Sztriha, Richard I. Webster, Dagmar Timmann, Bart P. van de Warrenburg, Jürgen Seeger, Alíz Zimmermann, Adrienn Máté, Cyril Goizet, Eva Fung, Marjo S. van der Knaap, Sébastien Fribourg, Adeline Vanderver, Cas Simons, Ryan J. Taft, John R. Yates III, Benoit Coulombe, Geneviève Bernard
Nat Commun. 2015-07-07
10.1038/ncomms8623

[Significance of the urine strip test in case of stunted growth].
A. Bertholet-Thomas, B. Llanas, A. Servais, N. Bendelac, C. Goizet, G. Choukroun, R. Novo, S. Decramer
Archives de Pédiatrie. 2015-07-01
10.1016/j.arcped.2015.04.016

[Cystinosis in adults: A systemic disease].
Aude Servais, Cyril Goizet, Aurélia Bertholet-Thomas, Stéphane Decramer, Brigitte Llanas, Gabriel Choukroun, Robert Novo
Néphrologie & Thérapeutique. 2015-06-01
10.1016/j.nephro.2014.12.001

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Marie Coutelier, Cyril Goizet, Alexandra Durr, Florence Habarou, Sara Morais, Alexandre Dionne-Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schule, Maxime Janin, Fanny Morice-Picard, Christelle M. Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy Rouleau, Alexis Brice, Garth Nicholson, Frédéric Darios, José L. Loureiro, Stephan Zuchner, Chris Ottolenghi, Fanny Mochel, Giovanni Stevanin
Brain. 2015-05-29
10.1093/brain/awv143

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, João R M Oliveira, Renee L Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María-Jesús Sobrido, Ángel Carracedo, Cristina Castro-Fernández, Stéphanie Cubizolle, Brent L Fogel, Cyril Goizet, Joanna C Jen, Suppachok Kirdlarp, Anthony E Lang, Zosia Miedzybrodzka, Witoon Mitarnun, Martin Paucar, Henry Paulson, Jérémie Pariente, Anne-Claire Richard, Naomi S Salins, Sheila A Simpson, Pasquale Striano, Per Svenningsson, François Tison, Vivek K Unni, Olivier Vanakker, Marja W Wessels, Suppachok Wetchaphanphesat, Michele Yang, Francois Boller, Dominique Campion, Didier Hannequin, Marc Sitbon, Daniel H Geschwind, Jean-Luc Battini, Giovanni Coppola
Nat Genet. 2015-05-04
10.1038/ng.3289

SCA27 is a cause of early-onset ataxia and developmental delay.
Marc Planes, Caroline Rooryck, Marie-Laure Vuillaume, Lucie Besnard, Julie Bouron, Didier Lacombe, Benoit Arveiler, Cyril Goizet
European Journal of Paediatric Neurology. 2015-03-01
10.1016/j.ejpn.2014.11.013

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow, Diana S. Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M.A. Forte, Hannah L. Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel-Hamid, Ghada M. Abdel-Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine Albin, Stavit Allon-Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul-Hirji, Eileen M. Baildam, Nadia Bahi-Buisson, Kathryn M. Bailey, Christine Barnerias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward M. Blair, Miriam Bloom, Alberto B. Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro-Gago, Anna Cavallini, Cristina Cereda, Kate E. Chandler, David A. Chitayat, Abigail E. Collins, Concepcion Sierra Corcoles, Nuno J.V. Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D′Arrigo, Christian G.E.L. De Goede, Corinne De Laet, Liesbeth M.H. De Waele, Ines Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael C. Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala R. Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Nasaim Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, Pierre Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming J. Lim, Jean-Pierre S.-M. Lin, Tarja Linnankivi, Mark T. Mackay, Daphna R. Marom, Charles Marques Lourenço, Shane A. McKee, Isabella Moroni, Jenny E.V. Morton, Marie-Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemi Nunez-Enamorado, Patrick J. Oades, Ivana Olivieri, John R. Ostergaard, Belén Pérez-Dueñas, Julie S. Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez, Agathe Roubertie, Elisabetta Salvatici, Karin A. Segers, Gyanranjan P. Sinha, Doriette Soler, Ronen Spiegel, Tommy I. Stödberg, Rachel Straussberg, Kathryn J. Swoboda, Mohnish Suri, Uta Tacke, Tiong Y. Tan, Johann te Water Naude, Keng Wee Teik, Maya Mary Thomas, Marianne Till, Davide Tonduti, Enza Maria Valente, Rudy Noel Van Coster, Marjo S. van der Knaap, Grace Vassallo, Raymon Vijzelaar, Julie Vogt, Geoffrey B. Wallace, Evangeline Wassmer, Hannah J. Webb, William P. Whitehouse, Robyn N. Whitney, Maha S. Zaki, Sameer M. Zuberi, John H. Livingston, Flore Rozenberg, Pierre Lebon, Adeline Vanderver, Simona Orcesi, Gillian I. Rice
Am. J. Med. Genet.. 2015-01-16
10.1002/ajmg.a.36887

[Incontinentia pigmenti with subcortical band heterotopias].
A. Aoun, C. Goizet, B. Arveiler, E. Sarrazin, C. Derancourt
Archives de Pédiatrie. 2015-01-01
10.1016/j.arcped.2014.10.006

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Xavier Ayrignac, Clarisse Carra-Dalliere, Nicolas Menjot de Champfleur, Christian Denier, Patrick Aubourg, Celine Bellesme, Giovanni Castelnovo, Jean Pelletier, Bertrand Audoin, Elsa Kaphan, Jerome de Seze, Nicolas Collongues, Frederic Blanc, Jean-Baptiste Chanson, Eloi Magnin, Eric Berger, Sandra Vukusic, Francoise Durand-Dubief, Jean-Philippe Camdessanche, Mickael Cohen, Christine Lebrun-Frenay, David Brassat, Michel Clanet, Patrick Vermersch, Helene Zephir, Olivier Outteryck, Sandrine Wiertlewski, David-Axel Laplaud, Jean-Christophe Ouallet, Bruno Brochet, Cyril Goizet, Marc Debouverie, Sophie Pittion, Gilles Edan, Véronique Deburghgraeve, Emmanuelle Le Page, Christophe Verny, Patrizia Amati-Bonneau, Dominique Bonneau, Didier Hannequin, Lucie Guyant-Maréchal, Nathalie Derache, Gilles Louis Defer, Thibault Moreau, Maurice Giroud, Anne Marie Guennoc, Pierre Clavelou, Frédérique Taithe, Stephane Mathis, Jean-Philippe Neau, Laurent Magy, Jean Louis Devoize, Marc Bataillard, Julien Masliah-Planchon, Imen Dorboz, Elisabeth Tournier-Lasserve, Thierry Levade, Odile Boespflug Tanguy, Pierre Labauge
Brain. 2014-12-19
10.1093/brain/awu353

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?
Julien Van-Gils, Jérôme Harambat, Charlotte Jubert, Dominique Vidaud, Brigitte Llanas, Yves Perel, Didier Lacombe, Cyril Goizet
European Journal of Medical Genetics. 2014-11-01
10.1016/j.ejmg.2014.09.001

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies
Sébastien Moutton, Patricia Fergelot, Jean-Marc Trocello, Violaine Plante-Bordeneuve, Nada Houcinat, Emilie Wenisch, Vincent Larue, Pierre Brugières, Fabienne Clot, Didier Lacombe, Benoit Arveiler, Cyril Goizet
Parkinsonism & Related Disorders. 2014-08-01
10.1016/J.PARKRELDIS.2014.04.026

Zebrafish models of human motor neuron diseases: Advantages and limitations
Patrick J. Babin, Cyril Goizet, Demetrio Raldúa
Progress in Neurobiology. 2014-07-01
10.1016/J.PNEUROBIO.2014.03.001

Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
Dongling Dai, Philippa B. Mills, Emma Footitt, Paul Gissen, Patricia McClean, Jens Stahlschmidt, Isabelle Coupry, Julie Lavie, Fanny Mochel, Cyril Goizet, Tatsuki Mizuochi, Akihiko Kimura, Hiroshi Nittono, Karin Schwarz, Peter J. Crick, Yuqin Wang, William J. Griffiths, Peter T. Clayton
J Inherit Metab Dis. 2014-03-22
10.1007/s10545-014-9695-6

Effectiveness of Anti-Psychotics and Related Drugs in the Huntington French-Speaking Group Cohort
Gaëlle Désaméricq, Guillaume Dolbeau, Christophe Verny, Perrine Charles, Alexandra Durr, Katia Youssov, Clémence Simonin, Jean-Philippe Azulay, Christine Tranchant, Cyril Goizet, Philippe Damier, Emmanuel Broussolle, Jean-François Demonet, Graca Morgado, Laurent Cleret de Langavant, Isabelle Macquin-Mavier, Anne-Catherine Bachoud-Lévi, Patrick Maison
PLoS ONE. 2014-01-15
10.1371/JOURNAL.PONE.0085430

Cavitary lesions in multiple sclerosis: Multicenter study on twenty patients
A. Corlobé, D. Renard, C. Goizet, E. Berger, L. Rumbach, A. Robinson, D. Dupuy, E. Touzé, H. Zéphir, P. Vermersch, B. Brochet, G. Edan, V. Deburghgraeve, A. Créange, G. Castelnovo, M. Cohen, C. Lebrun-Frenay, O. Boespflug-Tanguy, P. Labauge
Revue Neurologique. 2013-12-01
10.1016/J.NEUROL.2013.02.010

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: Case study and literature review
Ibrahim Tanyalçin, Helene Verhelst, Dicky J.J. Halley, Tim Vanderhasselt, Laurent Villard, Cyril Goizet, Willy Lissens, Grazia M. Mancini, Anna C. Jansen
European Journal of Paediatric Neurology. 2013-11-01
10.1016/J.EJPN.2013.05.002

Suicidal ideation in a European Huntington's disease population.
Anna A.M. Hubers, Erik van Duijn, Raymund A.C. Roos, David Craufurd, Hugh Rickards, G. Bernhard Landwehrmeyer, Rose C. van der Mast, Erik J. Giltay
Journal of Affective Disorders. 2013-10-01
10.1016/j.jad.2013.06.001

Association between caffeine intake and age at onset in Huntington's disease
Clémence Simonin, Cécile Duru, Julia Salleron, Pascale Hincker, Perrine Charles, Arnaud Delval, Katia Youssov, Sylvie Burnouf, Jean-Philippe Azulay, Christophe Verny, Clarisse Scherer, Christine Tranchant, Cyril Goizet, Sabrina Debruxelles, Luc Defebvre, Bernard Sablonnière, Monique Romon-Rousseaux, Luc Buée, Alain Destée, Olivier Godefroy, Alexandra Dürr, Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Levi, Florence Richard, David Blum, Pierre Krystkowiak
Neurobiology of Disease. 2013-10-01
10.1016/J.NBD.2013.05.013

Adaptative Capacity of Mitochondrial Biogenesis and of Mitochondrial Dynamics in Response to Pathogenic Respiratory Chain Dysfunction
Giovanni Benard, Thomas Trian, Nadège Bellance, Patrick Berger, Julie Lavie, Caroline Espil-Taris, Christophe Rocher, Sandrine Eimer-Bouillot, Cyril Goizet, Karine Nouette-Gaulain, Thierry Letellier, Didier Lacombe, Rodrigue Rossignol
Antioxidants & Redox Signaling. 2013-08-01
10.1089/ARS.2011.4244

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.
Silke Metzger, Carolin Walter, Olaf Riess, Raymund A. C. Roos, Jørgen E. Nielsen, David Craufurd, Huu Phuc Nguyen,
PLoS ONE. 2013-07-22
10.1371/journal.pone.0068951

C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing
Isabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, Didier Hannequin, Lucette Lacomblez, Véronique Golfier, Michèle Puel, Olivier Martinaud, Vincent Deramecourt, Sophie Rivaud-Pechoux, Stéphanie Millecamps, Martine Vercelletto, Philippe Couratier, François Sellal, Florence Pasquier, François Salachas, Catherine Thomas-Antérion, Mira Didic, Jérémie Pariente, Danielle Seilhean, Merle Ruberg, Isabelle Wargon, Frédéric Blanc, William Camu, Bernard-François Michel, Eric Berger, Mathilde Sauvée, Christel Thauvin-Robinet, Karl Mondon, Elisabeth Tournier-Lasserve, Cyril Goizet, Marie Fleury, Gabriel Viennet, Patrice Verpillat, Vincent Meininger, Charles Duyckaerts, Bruno Dubois, Alexis Brice,
JAD. 2013-06-20
10.3233/JAD-121456

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation
Anne Vital, Guilhem Sole, Philippe Casenave, Corinne Magdelaine, Xavier Ferrer, Claude Vital, Cyril Goizet
J Peripher Nerv Syst. 2013-06-01
10.1111/JNS5.12028

Head drops are also observed in advanced Huntington disease
Umberto Spampinato, Sabrina Debruxelles, Marie Rouanet, Danielle Lafoucrière, Benedikt Bader, Adrian Danek, François Tison, Cyril Goizet
Parkinsonism & Related Disorders. 2013-05-01
10.1016/J.PARKRELDIS.2013.01.012

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau, L Faivre
Clin Genet. 2013-03-18
10.1111/CGE.12094

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism
Hussein Daoud, Martine Tétreault, William Gibson, Kether Guerrero, Ana Cohen, Janina Gburek-Augustat, Matthis Synofzik, Bernard Brais, Cathy A Stevens, Rocio Sanchez-Carpintero, Cyril Goizet, Sakkubai Naidu, Adeline Vanderver, Geneviève Bernard
J Med Genet. 2013-01-25
10.1136/JMEDGENET-2012-101357

Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations
Eliane Berrou, Frédéric Adam, Marilyne Lebret, Patricia Fergelot, Alexandre Kauskot, Isabelle Coupry, Martine Jandrot-Perrus, Alan Nurden, Rémi Favier, Jean-Philippe Rosa, Cyril Goizet, Paquita Nurden, Marijke Bryckaert
ATVB. 2013-01-01
10.1161/ATVBAHA.112.300603

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac, Julien Thevenon, Lesley Adès, Bert Callewaert, Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, Pierre Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N. Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sanchez Del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod-Beroud, Christophe Beroud, Jeanne Amiel, Valérie Cormier-Daire, Jean-Baptiste Rivière, Catherine Boileau, Anne De Paepe, Laurence Faivre
The American Journal of Human Genetics. 2012-11-01
10.1016/J.AJHG.2012.10.002

A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations
Anne Vital, Philippe Latour, Guilhem Sole, Xavier Ferrer, Marie Rouanet, François Tison, Claude Vital, Cyril Goizet
Neuromuscular Disorders. 2012-08-01
10.1016/J.NMD.2012.04.001

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene
Domitille Gras, Laurence Jonard, Emmanuel Roze, Sandra Chantot-Bastaraud, Jeanette Koht, Jacques Motte, Diana Rodriguez, Malek Louha, Isabelle Caubel, Isabelle Kemlin, Laurence Lion-François, Cyril Goizet, Loic Guillot, Marie-Laure Moutard, Ralph Epaud, Bénédicte Héron, Perrine Charles, Marilyn Tallot, Agnès Camuzat, Alexandra Durr, Michel Polak, David Devos, Damien Sanlaville, Isabelle Vuillaume, Thierry Billette de Villemeur, Marie Vidailhet, Diane Doummar
J Neurol Neurosurg Psychiatry. 2012-07-24
10.1136/JNNP-2012-302505

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia
Patricia Fergelot, Isabelle Coupry, Caroline Rooryck, Julie Deforges, Elise Maurat, Guilhem Solé, Odile Boute, Anne Dieux-Coeslier, Albert David, Cécile Marchal, Jean-Benoit Thambo, Didier Lacombe, Benoit Arveiler, Cyril Goizet
European Journal of Medical Genetics. 2012-05-01
10.1016/J.EJMG.2012.01.018

Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia
Perrine Charles
Arch Neurol. 2012-04-01
10.1001/ARCHNEUROL.2011.2713

[Diagnostic investigations for an unexplained developmental disability].
A. Verloes, D. Héron, T. Billette de Villemeur, A. Afenjar, C. Baumann, N. Bahi-Buisson, P. Charles, A. Faudet, A. Jacquette, C. Mignot, M.-L. Moutard, S. Passemard, M. Rio, L. Robel, C. Rougeot, D. Ville, L. Burglen, V. des Portes
Archives de Pédiatrie. 2012-02-01
10.1016/j.arcped.2011.11.014

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype
Aurore Brun, Dorothée Cailley, Jérôme Toutain, Julie Bouron, Benoit Arveiler, Didier Lacombe, Cyril Goizet, Caroline Rooryck
European Journal of Medical Genetics. 2012-02-01
10.1016/J.EJMG.2011.11.006

Autosomal dominant cerebellar ataxias,Les ataxies cérébelleuses autosomiques dominantes
C. Goizet, M. Anheim, G. Stevanin
Pratique Neurologique - FMC. 2012-02-01
10.1016/j.praneu.2011.12.001

Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by diet.
S. Rubin, A. L. Le Piffer, M. B. Rougier, M. N. Delyfer, J. F. Korobelnik, I. Redonnet-Vernhet, C. Marchal, C. Goizet, S. Mesli, C. Gonzalez, H. Gin, V. Rigalleau
JIMD Reports. 2012-01-01
10.1007/8904_2012_207

Clinical and Radiological Characteristics in Multiple Sclerosis Patients with Large Cavitary Lesions
Dimitri Renard, Bruno Brochet, Sandra Vukusic, Gilles Edan, Véronique Deburghgraeve, Cyril Goizet, Diane Dupuy, Emmanuel Touze, Romain Deschamps, Hélène Zephyr, Alain Creange, Giovanni Castelnovo, Odile Boespflug-Tanguy, Pierre Labauge,
Eur Neurol. 2012-01-01
10.1159/000338476

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez
Orphanet Journal of Rare Diseases. 2012-01-01
10.1186/1750-1172-7-18

Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease.
Esther Cubo, Miguel González, Inés del Puerto, Justo Garcia de Yébenes, Olga Fernández Arconada, José María Trejo Gabriel y Galán,
Mov. Disord.. 2011-12-09
10.1002/mds.24062

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome
Paquita Nurden, Najet Debili, Isabelle Coupry, Marijke Bryckaert, Ibtissam Youlyouz-Marfak, Guilhem Solé, Anne-Cécile Pons, Eliane Berrou, Frédéric Adam, Alexandre Kauskot, Jean-Marie Daniel Lamazière, Philippe Rameau, Patricia Fergelot, Caroline Rooryck, Dorothée Cailley, Benoît Arveiler, Didier Lacombe, William Vainchenker, Alan Nurden, Cyril Goizet
Blood. 2011-11-24
10.1182/BLOOD-2011-07-365601

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A
Aurelie Carabalona, Shirley Beguin, Emilie Pallesi-Pocachard, Emmanuelle Buhler, Christophe Pellegrino, Karen Arnaud, Philippe Hubert, Mehdi Oualha, Jean Pierre Siffroi, Sabrina Khantane, Isabelle Coupry, Cyril Goizet, Antoinette Bernabe Gelot, Alfonso Represa, Carlos Cardoso
Human Molecular Genetics. 2011-11-10
10.1093/HMG/DDR531

Natural history of adult-onset eIF2B-related disorders: A multicentric survey of 24 cases
C. Carra-Dalliere, L. Horzinski, X. Ayrignac, S. Vukusic, D. Rodriguez, F. Mauguiere, L. Peter, C. Goizet, F. Bouhour, C. Denier, C. Confavreux, M. Obadia, F. Blanc, J. de Seze, F. Sedel, A.-M. Guennoc, E. Sartori, D. Laplaud, J.-C. Antoine, A. Fogli, O. Boespflug-Tanguy, P. Labauge
Revue Neurologique. 2011-11-01
10.1016/J.NEUROL.2011.03.008

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Cyril Goizet, Christel Depienne, Giovanni Benard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie-Laure Martin-Négrier, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Didier Hannequin, Perrine Charles, Imed Feki, Jean-François Pinel, Anne-Marie Ouvrard-Hernandez, Stanislas Lyonnet, Elisabeth Ollagnon-Roman, Jacqueline Yaouanq, Annick Toutain, Christelle Dussert, Bertrand Fontaine, Eric Leguern, Didier Lacombe, Alexandra Durr, Rodrigue Rossignol, Alexis Brice, Giovanni Stevanin
Hum. Mutat.. 2011-09-09
10.1002/humu.21542

Quantitative Assessment of the Evolution of Cerebellar Signs in Spinocerebellar Ataxias
Ellis Chan, Perrine Charles, Pascale Ribai, Cyril Goizet, Cecilia Marelli, Carlo-Maria Vincitorio, Alice Le Bayon, Lucie Guyant-Maréchal, Nadia Vandenberghe, Mathieu Anheim, David Devos, Leorah Freeman, Isabelle Le Ber, Karine N'Guyen, Maya Tchikviladzé, Pierre Labauge, Didier Hannequin, Alexis Brice, Alexandra Durr, Sophie Tezenas du Montcel
Mov. Disord.. 2011-02-01
10.1002/MDS.23531

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
Alice Masurel-Paulet, Eric Haan, Elizabeth M. Thompson, Cyril Goizet, Christel Thauvin-Robinet, Andrew Tai, Declan Kennedy, Greg Smith, Teck Yee Khong, Guilhem Solé, Elodie Guerineau, Isabelle Coupry, Frédéric Huet, Stephen Robertson, Laurence Faivre
European Journal of Medical Genetics. 2011-01-01
10.1016/J.EJMG.2010.09.010

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY.
M. Orth,
Journal of Neurology, Neurosurgery & Psychiatry. 2010-11-19
10.1136/jnnp.2010.209668

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct
Laurence Jonard, Magali Niasme-Grare, Crystel Bonnet, Delphine Feldmann, Isabelle Rouillon, Natalie Loundon, Catherine Calais, Hélène Catros, Albert David, Hélène Dollfus, Valérie Drouin-Garraud, Françoise Duriez, Marie Madeleine Eliot, Florence Fellmann, Christine Francannet, Brigitte Gilbert-Dussardier, Catherine Gohler, Cyril Goizet, Hubert Journel, Thierry Mom, Marie-Françoise Thuillier-Obstoy, Remy Couderc, Eréa Noël Garabédian, Françoise Denoyelle, Sandrine Marlin
International Journal of Pediatric Otorhinolaryngology. 2010-09-01
10.1016/J.IJPORL.2010.06.002

Array-CGH Analysis of a Cohort of 86 Patients With Oculoauriculovertebral Spectrum
Caroline Rooryck, Noui Souakri, Dorothée Cailley, Julie Bouron, Cyril Goizet, Marie-Ange Delrue, Sandrine Marlin, Feclad Didier Lacombe, Benoît Arveiler
Am. J. Med. Genet.. 2010-07-15
10.1002/AJMG.A.33491

[Genetic testing in asymptomatic minors: a survey among French geneticists].
L. Joly, C. Thauvin-Robinet, F. Huet, J.-M. Pinoit, A. Contrain, C. Cassini, F. Coron, E. Gautier, B. Bonin, M. Gargiulo, D. Heron, A. Dürr, L. Faivre
Archives de Pédiatrie. 2010-07-01
10.1016/j.arcped.2010.03.016

Homozygosity for dominant mutations increases severity of muscle channelopathies
Marianne Arzel-hézode, Damien Sternberg, Nacira Tabti, Savine Vicart, Cyril Goizet, Bruno Eymard, Bertrand Fontaine, Emmanuel Fournier
Muscle Nerve. 2010-04-01
10.1002/MUS.21520

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients
Claudia Braida, Rhoda K.A. Stefanatos, Berit Adam, Navdeep Mahajan, Hubert J.M. Smeets, Florence Niel, Cyril Goizet, Benoit Arveiler, Michel Koenig, Clotilde Lagier-Tourenne, Jean-Louis Mandel, Catharina G. Faber, Christine E.M. de Die-Smulders, Frank Spaans, Darren G. Monckton
Human Molecular Genetics. 2010-01-15
10.1093/HMG/DDQ015

Oculo-dento-digital dysplasia: Lack of genotype–phenotype correlation for GJA1 mutations and usefulness of neuro-imaging
M.J. Alao, D. Bonneau, M. Holder-Espinasse, C. Goizet, S. Manouvrier-Hanu, A. Mezel, F. Petit, D. Subtil, C. Magdelaine, D. Lacombe
European Journal of Medical Genetics. 2010-01-01
10.1016/J.EJMG.2009.08.007

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.
A Mehta, M Beck, P Elliott, R Giugliani, A Linhart, G Sunder-Plassmann, R Schiffmann, F Barbey, M Ries, JTR Clarke
The Lancet. 2009-12-01
10.1016/s0140-6736(09)61493-8

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations
G Sole, I Coupry, C Rooryck, E Guerineau, F Martins, S Deves, C Hubert, N Souakri, O Boute, C Marchal, L Faivre, E Landre, S Debruxelles, A Dieux-Coeslier, C Boulay, S Chassagnon, V Michel, M-C Routon, A Toutain, N Philip, D Lacombe, L Villard, B Arveiler, C Goizet
Journal of Neurology, Neurosurgery & Psychiatry. 2009-11-16
10.1136/JNNP.2008.162263

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
C. Goizet, A. Boukhris, D. Maltete, L. Guyant-Marechal, J. Truchetto, E. Mundwiller, S. Hanein, P. Jonveaux, F. Roelens, J. Loureiro, E. Godet, S. Forlani, J. Melki, M. Auer-Grumbach, J. C. Fernandez, P. Martin-Hardy, I. Sibon, G. Sole, I. Orignac, C. Mhiri, P. Coutinho, A. Durr, A. Brice, G. Stevanin
Neurology. 2009-10-05
10.1212/WNL.0b013e3181bacf59

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
M. Anheim, B. Monga, M. Fleury, P. Charles, C. Barbot, M. Salih, J. P. Delaunoy, M. Fritsch, L. Arning, M. Synofzik, L. Schöls, J. Sequeiros, C. Goizet, C. Marelli, I. Le Ber, J. Koht, J. Gazulla, J. De Bleecker, M. Mukhtar, N. Drouot, L. Ali-Pacha, T. Benhassine, M. Chbicheb, A. M’Zahem, A. Hamri, B. Chabrol, J. Pouget, R. Murphy, M. Watanabe, P. Coutinho, M. Tazir, A. Durr, A. Brice, C. Tranchant, M. Koenig
Brain. 2009-08-20
10.1093/BRAIN/AWP211

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
Nelly Burnichon, Vincent Rohmer, Laurence Amar, Philippe Herman, Sophie Leboulleux, Vincent Darrouzet, Patricia Niccoli, Dominique Gaillard, Gérard Chabrier, Frédéric Chabolle, Isabelle Coupier, Philippe Thieblot, Pierre Lecomte, Jérôme Bertherat, Nelly Wion-Barbot, Arnaud Murat, Annabelle Venisse, Pierre-François Plouin, Xavier Jeunemaitre, Anne-Paule Gimenez-Roqueplo,
The Journal of Clinical Endocrinology & Metabolism. 2009-08-01
10.1210/jc.2008-2504

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases
P. Labauge, L. Horzinski, X. Ayrignac, P. Blanc, S. Vukusic, D. Rodriguez, F. Mauguiere, L. Peter, C. Goizet, F. Bouhour, C. Denier, C. Confavreux, M. Obadia, F. Blanc, J. d. Seze, A. Fogli, O. Boespflug-Tanguy
Brain. 2009-07-22
10.1093/BRAIN/AWP171

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
C. Goizet, A. Boukhris, A. Durr, C. Beetz, J. Truchetto, C. Tesson, M. Tsaousidou, S. Forlani, L. Guyant-Marechal, B. Fontaine, J. Guimaraes, B. Isidor, O. Chazouilleres, D. Wendum, D. Grid, F. Chevy, P. F. Chinnery, P. Coutinho, J.-P. Azulay, I. Feki, F. Mochel, C. Wolf, C. Mhiri, A. Crosby, A. Brice, G. Stevanin
Brain. 2009-05-12
10.1093/brain/awp073

Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review
F. Perez, O. Anne, S. Debruxelles, P. Menegon, V. Lambrecq, D. Lacombe, M.L. Martin-Negrier, B. Brochet, C. Goizet
Clinical Neurology and Neurosurgery. 2009-01-01
10.1016/J.CLINEURO.2008.06.021

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.
Nathalie Damon-Perriere, Patrice Menegon, Anne Olivier, Odile Boespflug-Tanguy, Florence Niel, Isabelle Creveaux, Vincent Dousset, Bruno Brochet, Cyril Goizet
Clinical Neurology and Neurosurgery. 2008-12-01
10.1016/j.clineuro.2008.08.003

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
Nele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, Erik Fransen, Nele Dieltjens, Malgorzata Mueller-Malesinska, Agnieszka Pollak, Agata Skorka, Jaroslaw Waligora, Rafal Ploski, Pierangela Castorina, Paola Primignani, Umberto Ambrosetti, Alessandra Murgia, Eva Orzan, Arti Pandya, Kathleen Arnos, Virginia Norris, Pavel Seeman, Petr Janousek, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Carla J Nishimura, Andreas Janecke, Doris Nekahm-Heis, Alessandro Martini, Elena Mennucci, Timea Tóth, Istvan Sziklai, Ignacio del Castillo, Felipe Moreno, Michael B Petersen, Vasiliki Iliadou, Mustafa Tekin, Armagan Incesulu, Ewa Nowakowska, Jerzy Bal, Paul Van de Heyning, Anne-Françoise Roux, Catherine Blanchet, Cyril Goizet, Guenaëlle Lancelot, Graça Fialho, Helena Caria, Xue Zhong Liu, Ouyang Xiaomei, Paul Govaerts, Karen Grønskov, Karianne Hostmark, Klemens Frei, Ingeborg Dhooge, Stephen Vlaeminck, Erdmute Kunstmann, Lut Van Laer, Richard JH Smith, Guy Van Camp
Eur J Hum Genet. 2008-11-05
10.1038/EJHG.2008.201

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Dorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, Willy M Nillesen, Helger G Yntema, Andreas Tzschach, Martine Raynaud, Dietz Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier Lacombe, Jean-Michel Pedespan, Bernard Echenne, Gholamali Tariverdian, Declan O'Rourke, Mary D King, Andrew Green, Margriet van Kogelenberg, Hilde Van Esch, Jozef Gecz, Ben C J Hamel, Hans van Bokhoven, Arjan P M de Brouwer
Eur J Hum Genet. 2008-11-05
10.1038/EJHG.2008.208

Weight loss in Huntington disease increases with higher CAG repeat number.
N. A. Aziz, J.M.M. van der Burg, G. B. Landwehrmeyer, P. Brundin, T. Stijnen, R. A.C. Roos,
Neurology. 2008-11-03
10.1212/01.wnl.0000334276.09729.0e

Hereditary optic neuropathies share a common mitochondrial coupling defect.
Arnaud Chevrollier, Virginie Guillet, Dominique Loiseau, Naïg Gueguen, Marie-Anne Pou de Crescenzo, Christophe Verny, Marc Ferre, Hélène Dollfus, Sylvie Odent, Dan Milea, Cyril Goizet, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier
Ann Neurol.. 2008-06-01
10.1002/ana.21385

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez, Nizar Elleuch, Sylvie Forlani, Alexandra Durr, Imed Feki, Michael Hutchinson, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Giovanni Stevanin
The American Journal of Human Genetics. 2008-04-01
10.1016/j.ajhg.2008.03.004

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
Sophie Tezenas du Montcel, Perrine Charles, Pascale Ribai, Cyril Goizet, Alice Le Bayon, Pierre Labauge, Lucie Guyant-Maréchal, Sylvie Forlani, Celine Jauffret, Nadia Vandenberghe, Karine N’Guyen, Isabelle Le Ber, David Devos, Carlo-Maria Vincitorio, Mario-Ubaldo Manto, François Tison, Didier Hannequin, Merle Ruberg, Alexis Brice, Alexandra Durr
Brain. 2008-03-31
10.1093/brain/awn059

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
Kathrin Huehne, Christiane Zweier, Klaus Raab, Sylvie Odent, Martine Bonnaure-Mallet, Jean-louis Sixou, Pierre Landrieu, Cyril Goizet, Jean Sarlangue, Matthias Baumann, Thomas Eggermann, Anita Rauch, Sinje Ruppert, Georg M. Stettner, Bernd Rautenstrauss
Neuromuscular Disorders. 2008-02-01
10.1016/j.nmd.2007.10.005

Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.
Thomas Jouary, Cyril Goizet, Isabelle Coupry, Isabelle Redonnet-Vernhet, Thierry Levade, Ingrid Burgelin, Annick Toutain, Emmanuel Delaporte, Claire Douillard, Didier Lacombe, Alain Taieb, Benoît Arveiler
Journal of Investigative Dermatology. 2008-02-01
10.1038/sj.jid.5700987

Perrault syndrome: report of four new cases, review and exclusion of candidate genes.
Sandrine Marlin, Didier Lacombe, Laurence Jonard, Nicolas Leboulanger, Dominique Bonneau, Cyril Goizet, Thierry Billette de Villemeur, Sylvie Cabrol, Muriel Houang, Lucien Moatti, Delphine Feldmann, Françoise Denoyelle
Am. J. Med. Genet.. 2008-01-01
10.1002/ajmg.a.32180

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Gillian Rice, Teresa Patrick, Rekha Parmar, Claire F. Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward M. Blair, Nenad Blau, David T. Bonthron, Tracy Briggs, Louise A. Brueton, Han G. Brunner, Christopher J. Burke, Ian M. Carr, Daniel R. Carvalho, Kate E. Chandler, Hans-Jürgen Christen, Peter C. Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Angels Garcia-Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew J. Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong-Hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen M. Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, Wilfried Kratzer, Didier Lacombe, Lieven Lagae, Pierre Georges Landrieu, Giovanni Lanzi, Andrea Leitch, Ming J. Lim, John H. Livingston, Charles M. Lourenco, E. G. Hermione Lyall, Sally A. Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melancon, Leena D. Mewasingh, Marie-Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth M. Rosser, Kevin Rostasy, Agathe Roubertie, Amparo Sanchis, Raphael Schiffmann, Sabine Scholl-Bürgi, Sunita Seal, Stavit A. Shalev, C. Sierra Corcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John L. Tolmie, Pam Tomlin, Federica Vagnarelli, Enza Maria Valente, Rudy N.A. Van Coster, Nathalie Van der Aa, Adeline Vanderver, Johannes S.H. Vles, Thomas Voit, Evangeline Wassmer, Bernhard Weschke, Margo L. Whiteford, Michel A.A. Willemsen, Andreas Zankl, Sameer M. Zuberi, Simona Orcesi, Elisa Fazzi, Pierre Lebon, Yanick J. Crow
The American Journal of Human Genetics. 2007-10-01
10.1086/521373

Phenotypic heterogeneity in AAAS gene mutation
P Barat, C Goizet, A Tullio-Pelet, O Puel, C Labessan, A Barthelemy
. 2007
10.1111/j.1651-2227.2004.tb02760.x

[Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up].
Olivier Lidove, Soumeya Bekri, Cyril Goizet, Aurélie Khau Van Kien, Sélim Aractingi, Bertrand Knebelmann, Gabriel Choukroun, Michel Tsimaratos, Isabelle Redonnet-Vernhet, Didier Lacombe, Roland Jaussaud
La Presse Médicale. 2007-07-01
10.1016/j.lpm.2007.01.006

Bardet-biedl syndrome and brain abnormalities.
C. Rooryck, S. Pelras, J.-F. Chateil, C. Cances, B. Arveiler, A. Verloes, D. Lacombe, C. Goizet
Neuropediatrics. 2007-02-01
10.1055/s-2007-981466

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, Fabio Pagella, Marie-France Carette, Brigitte Gilbert-Dussardier, Cyril Goizet, Joelle Roume, Muriel Rabilloud, Jean-Christophe Saurin, Vincent Cottin, Jerome Honnorat, Florence Coulet, Sophie Giraud, Alain Calender, Cesare Danesino, Elisabetta Buscarini, Henri Plauchu
Genetics in Medicine. 2007-01-01
10.1097/gim.0b013e31802d8373

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Yanick J Crow, Andrea Leitch, Bruce E Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin Semple, Jean Aicardi, Riyana Babul-Hirji, Clarisse Baumann, Peter Baxter, Enrico Bertini, Kate E Chandler, David Chitayat, Daniel Cau, Catherine Déry, Elisa Fazzi, Cyril Goizet, Mary D King, Joerg Klepper, Didier Lacombe, Giovanni Lanzi, Hermione Lyall, María Luisa Martínez-Frías, Michèle Mathieu, Carole McKeown, Anne Monier, Yvette Oade, Oliver W Quarrell, Christopher D Rittey, R Curtis Rogers, Amparo Sanchis, John B P Stephenson, Uta Tacke, Marianne Till, John L Tolmie, Pam Tomlin, Thomas Voit, Bernhard Weschke, C Geoffrey Woods, Pierre Lebon, David T Bonthron, Chris P Ponting, Andrew P Jackson
Nat Genet. 2006-07-16
10.1038/ng1842

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, Stéphane Pinson, Marie-Jeanne Marion, Emmanuel Babin, Brigitte Gilbert-Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu, Thierry Frébourg, Alain Calender, Sophie Giraud,
Hum. Mutat.. 2006-01-01
10.1002/humu.9421

Behavioral and temperamental features of children with Costello syndrome.
Cédric Galéra, Marie-Ange Delrue, Cyril Goizet, Kattalin Etchegoyhen, Emmanuelle Taupiac, Sabine Sigaudy, Benoît Arveiler, Nicole Philip, Manuel Bouvard, Didier Lacombe
Am. J. Med. Genet.. 2006-01-01
10.1002/ajmg.a.31169

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
F Laumonnier
Journal of Medical Genetics. 2005-10-01
10.1136/jmg.2004.029439

Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene.
Anne Vital, Xavier Ferrer, Cyril Goizet, Marie Rouanet-Larrivière, Sandrine Eimer, Gisèle Bonne, Claude Vital
Neuromuscular Disorders. 2005-10-01
10.1016/j.nmd.2005.06.016

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.
M Ali
Journal of Medical Genetics. 2005-09-09
10.1136/jmg.2005.031880

Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review.
F. Boralevi, M. Haftek, P. Vabres, S. Lepreux, C. Goizet, C. Leaute-Labreze, A. Taieb
Br J Dermatol. 2005-08-01
10.1111/j.1365-2133.2005.06664.x

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
Sandrine Marlin, Delphine Feldmann, Hélène Blons, Natalie Loundon, Isabelle Rouillon, Sébastien Albert, Pierre Chauvin, Eréa-Noël Garabédian, Rémy Couderc, Sylvie Odent, Alain Joannard, Sébastien Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Cédric Lemarechal, Hélène Dollfus, Marie-Madeleine Eliot, Jean-Louis Delaunoy, Albert David, Catherine Calais, Valérie Drouin-Garraud, Marie-Françoise Obstoy, Cyril Goizet, Françoise Duriez, Florence Fellmann, Jocelyne Hélias, Jacqueline Vigneron, Bettina Montaut, Dominique Matin-Coignard, Laurence Faivre, Clarisse Baumann, Patricia Lewin, Christine Petit, Françoise Denoyelle
Arch Otolaryngol Head Neck Surg. 2005-06-01
10.1001/archotol.131.6.481

Ancestral origins of the prion protein gene D178N mutation in the Basque Country.
Ana B. Rodríguez-Martínez, Christian Barreau, Isabelle Coupry, Jordi Yagüe, Raquel Sánchez-Valle, Luis Galdós-Alcelay, Agustín Ibáñez, Antón Digón, Ignacio Fernández-Manchola, Cyril Goizet, Azucena Castro, Nerea Cuevas, Maite Alvarez-Alvarez, Marian M. de Pancorbo, Benoît Arveiler, Juan J. Zarranz
Hum Genet. 2005-04-02
10.1007/s00439-005-1277-0

[A tumour of the right forefinger].
C. Espil-Taris, C. Goizet, S.Ramirez Del Villar, P. Pietrera, J.F. Chateil, P. Pillet
Archives de Pédiatrie. 2004-09-01
10.1016/j.arcped.2004.05.008

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
Delphine Feldmann, Françoise Denoyelle, Pierre Chauvin, Eréa-Noël Garabédian, Rémy Couderc, Sylvie Odent, Alain Joannard, Sébastien Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Cédric Le Maréchal, Hélène Dollfus, Marie-Madeleine Eliot, Jean-Pierre Delaunoy, Albert David, Catherine Calais, Valérie Drouin-Garraud, Marie-Françoise Obstoy, Didier Bouccara, Olivier Sterkers, Patrice Tran Ba Huy, Cyril Goizet, Françoise Duriez, Florence Fellmann, Jocelyne Hélias, Jacqueline Vigneron, Bétina Montaut, Patricia Lewin, Christine Petit, Sandrine Marlin
Am. J. Med. Genet.. 2004-03-05
10.1002/ajmg.a.20588

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Gaëtan Lesca, Henri Plauchu, Florence Coulet, Sylvain Lefebvre, Ghislaine Plessis, Sylvie Odent, Sophie Rivière, Bruno Leheup, Cyril Goizet, Marie-France Carette, Jean-François Cordier, Stéphane Pinson, Florent Soubrier, Alain Calender, Sophie Giraud
Hum. Mutat.. 2004-03-02
10.1002/humu.20017

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
C Goizet
Journal of Medical Genetics. 2004-03-01
10.1136/jmg.2003.013383

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.
Cyril Goizet, Isabelle Coupry, Caroline Rooryck, Laurence Taine, Virginie Dormoy, Didier Lacombe, Benoît Arveiler
Eur J Hum Genet. 2004-01-14
10.1038/sj.ejhg.5201128

[Hereditary neuralgic amyotrophy: a paediatric and familial presentation of Parsonage-Turner syndrome]

.
10.1016/j.arcped.2004.06.023

A patient with hydranencephaly and PEHO-like dysmorphic features.
Cyril Goizet, Caroline Espil-Taris, Marie Husson, Jean-François Chateil, Jean-Michel Pedespan, Didier Lacombe
Annales de Génétique. 2003-01-01
10.1016/s0003-3995(03)00003-0

Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias.
C. Goizet, G. Lesca, A. Durr
Neurology. 2002-11-12
10.1212/01.wnl.0000032255.75650.c2

Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia.
G Lesca
Journal of Medical Genetics. 2002-07-01
10.1136/jmg.39.7.522

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.
C. Goizet, B. Catargi, F. Tison, A. Tullio-Pelet, S. Hadj-Rabia, F. Pujol, A. Lagueny, S. Lyonnet, D. Lacombe
Neurology. 2002-03-26
10.1212/wnl.58.6.962

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Diana Rodriguez, Fernande Gauthier, Enrico Bertini, Marianna Bugiani, Michael Brenner, Sylvie N'guyen, Cyril Goizet, Antoinette Gelot, Robert Surtees, Jean-Michel Pedespan, Xavier Hernandorena, Monica Troncoso, Graziela Uziel, Albee Messing, Gérard Ponsot, Danielle Pham-Dinh, André Dautigny, Odile Boespflug-Tanguy
The American Journal of Human Genetics. 2001-11-01
10.1086/323799

Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations.
Anne Vital, Xavier Ferrer, Alain Lagueny, Antoon Vandenberghe, Philippe Latour, Cyril Goizet, Marie-Helene Canron, Pierre Louiset, Klaus G. Petry, Claude Vital
J Peripher Nerv Syst. 2001-06-01
10.1046/j.1529-8027.2001.01011.x

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.
I. Coupry, L. Taine, C. Goizet, C. Soriano, B. Mortemousque, B. Arveiler, D. Lacombe
Journal of Medical Genetics. 2001-01-01
10.1136/jmg.38.1.35

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.
Cyril Goizet, Elsa Excoffier, Laurence Taine, Emmanuelle Taupiac, Azza Abd El Moneim, Benoit Arveiler, Manuel Bouvard, Didier Lacombe
Am. J. Med. Genet.. 2000-01-01
10.1002/1096-8628(20001204)96:63.0.co;2-r

W syndrome: report of three cases and review.
Cyril Goizet, Dominique Bonneau, Didier Lacombe
Am. J. Med. Genet.. 1999-12-22
10.1002/(sici)1096-8628(19991222)87:53.0.co;2-f

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.
Laurence Taine, Cyril Goizet, Zong Qi Wen, Fred Petrij, Martijn H. Breuning, S�gol�ne Aym�, Robert Saura, Benoit Arveiler, Didier Lacombe
Am. J. Med. Genet.. 1998-07-07
10.1002/(sici)1096-8628(19980707)78:33.0.co;2-d