Cyril Goizet

Cyril Goizet

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Cyril Goizet

Publications by authors named "Cyril Goizet"

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Coexistence of schwannomatosis and glioblastoma in two families.

Eur J Med Genet 2019 Aug 22;62(8):103680. Epub 2019 May 22.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103680DOI Listing
August 2019

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Eur J Med Genet 2019 Jun 22;62(6):103530. Epub 2018 Aug 22.

Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.08.011DOI Listing
June 2019

Disrupted filamin A/αβ interaction induces macrothrombocytopenia by increasing RhoA activity.

Blood 2019 Apr 2;133(16):1778-1788. Epub 2019 Jan 2.

Unité Mixte de Recherche (UMR) 1170, INSERM, Equipe Labelllisée Ligue Nationale Contre le Cancer, Gustave Roussy Cancer Campus, Université Paris-Sud, Université Paris-Saclay, Villejuif, France.

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http://dx.doi.org/10.1182/blood-2018-07-861427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484462PMC
April 2019

Genetics of amyotrophic lateral sclerosis: A review.

J Neurol Sci 2019 Apr 21;399:217-226. Epub 2019 Feb 21.

Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux, (Pellegrin Hospital), University of Bordeaux, F-33000 Bordeaux, France; Neurocentre Magendie, 'Physiopathologie de la Plasticité Neuronale', University of Bordeaux, U862, F-33000 Bordeaux, France; INSERM, Neurocentre Magendie, 'Physiopathologie de la Plasticité Neuronale', U862, F-33000 Bordeaux, France.

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http://dx.doi.org/10.1016/j.jns.2019.02.030DOI Listing
April 2019

Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.

Pediatr Neurol 2019 Mar 1. Epub 2019 Mar 1.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de référence Neurogénétique, Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.005DOI Listing
March 2019

[Legal aspects of genetic testing for diagnostic purposes in France].

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:13-15. Epub 2018 Nov 12.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France - Laboratoire MRGM, Inserm U1211, Université de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1051/medsci/201834s204DOI Listing
November 2018

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Orphanet J Rare Dis 2018 10 1;13(1):175. Epub 2018 Oct 1.

Reference Centre for Lysosomal Diseases (CRML), Department of Pediatric Neurology, and Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012, Paris, France.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0913-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167825PMC
October 2018

Some new proposals for the classification of inherited myopathies.

J Neurol Sci 2018 08 19;391:118-119. Epub 2018 Jun 19.

Department of Neurology (National reference center 'neuropathies périphériques rares'), University Hospital Dupuytren, 2 avenue Martin Luther King, 87042 Limoges, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.06.014DOI Listing
August 2018

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

J Mol Diagn 2018 07 21;20(4):533-549. Epub 2018 May 21.

Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Montpellier, Montpellier, France; AOC (Atlantique-Occitanie-Caraïbe) Reference Center for Neuromuscular Disorders, Aquitaine, France; Rare Diseases Genetics Laboratory, Equipe Accueil EA7402, Université de Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.04.001DOI Listing
July 2018

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Pediatr Neurol 2018 07 9;84:21-26. Epub 2018 Apr 9.

Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.015DOI Listing
July 2018

Globus pallidus internus stimulation in spino-cerebellar ataxia type 3.

J Neurol 2018 Jul 6;265(7):1714-1716. Epub 2018 Jun 6.

Département de Neurosciences Cliniques, Centre Hospitalier Universitaire de Bordeaux, Place Amelie Raba Leon, 33076, Bordeaux, France.

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http://dx.doi.org/10.1007/s00415-018-8922-8DOI Listing
July 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
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 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Non-specific gastrointestinal features: Could it be Fabry disease?

Dig Liver Dis 2018 May 1;50(5):429-437. Epub 2018 Mar 1.

Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15908658183020
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http://dx.doi.org/10.1016/j.dld.2018.02.011DOI Listing
May 2018

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Clin Neurol Neurosurg 2018 03 30;166:1-3. Epub 2018 Jan 30.

CHU Bordeaux, Service de Génétique Médicale, F-33000 Bordeaux, France; Univ. Bordeaux, INSERM 1211, F-33000 Bordeaux, France.

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http://dx.doi.org/10.1016/j.clineuro.2018.01.013DOI Listing
March 2018

Updating the classification of inherited neuropathies: Results of an international survey.

Neurology 2018 03 2;90(10):e870-e876. Epub 2018 Feb 2.

From the Department of Neurology (L.M., J.-M.V.), Centre de Référence Neuropathies Rares, CHU Limoges; Department of Neurology, Nerve-Muscle Unit (S.M., G.L.M.), and Department of Neurogenetics (C.G.), CHU Bordeaux (Pellegrin Hospital), France; and Department of Neurology (M.T.), CHU Mustapha Bacha, Algiers, Algeria.

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http://dx.doi.org/10.1212/WNL.0000000000005074DOI Listing
March 2018

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Neurol Genet 2018 Feb 24;4(1):e217. Epub 2018 Jan 24.

Département de Neuropédiatrie (A.R., B.E., P.M., F.R.), CHU Gui de Chauliac, Montpellier; Institut des Neurosciences de Montpellier (A.R., N.H., G.M., C.P.H.), INSERM U1051, Université de Montpellier; Service de Neuroradiologie (C.-J.R., N.L.), CHU Gui de Chauliac, Montpellier; Equipe MitoLab (M.C., G.L.), UMR CNRS 6015-INSERM 1083, Institut MitoVasc, University of Angers, France; Department of Medical Genetics (C. Goizet), Hopital Pellegrin, Bordeaux University Hospital; MRGM Laboratory (C. Goizet), INSERM U1211, University of Bordeaux; Laboratoire de Génétique Moléculaire (C. Guissart), CHU de Montpellier; U1046 INSERM (P.M., F.R.), UMR9214 CNRS, Université de Montpellier; Department of Neurology (C.M.), University Hospital Gui de Chauliac, Montpellier; Centre de Référence des Malformations et Maladies Congénitales du Cervelet (L.B.), Service de Génétique, Hôpital Armand Trousseau, AP-HP, Paris, France; Wellcome Trust Centre for Mitochondrial Research (R.H.), Institute of Genetic Medicine, Newcastle University, United Kingdom; and Centre of Reference for Genetic Sensory Diseases (C.P.H.), Montpellier, France.

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http://dx.doi.org/10.1212/NXG.0000000000000217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820597PMC
February 2018

History and current difficulties in classifying inherited myopathies and muscular dystrophies.

J Neurol Sci 2018 Jan 2;384:50-54. Epub 2017 Nov 2.

Department of Neurology, University Hospital Dupuytren, 2 avenue Martin Luther King, 87042 Limoges, France; National reference center 'neuropathies périphériques rares', University Hospital Dupuytren, 2 avenue Martin Luther King, 87042 Limoges, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.10.051DOI Listing
January 2018

Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αβ Activation.

Arterioscler Thromb Vasc Biol 2017 06 20;37(6):1087-1097. Epub 2017 Apr 20.

From the INSERM UMR_S 1176, Université Paris-Sud, Université Paris-Saclay, Le Kremlin Bicêtre, France (E.B., F.A., M.L., V.P., O.I., J.-P.R., M.B.); INSERM UMR_S 1211, Université de Bordeaux, CHU Bordeaux UNIV EA 4576, Place Aurélie Raba-Léon, France (P.F., I.C., C.G.); CHU Bordeaux, Centre de Référence Anomalies du Développement Embryonnaire, Service de Génétique Médicale, Hôpital Pellegrin, Place Aurélie Raba-Léon, France (P.F., C.G.); Unité d'Hémostase Biologique, Hospices Civils de Lyon, CBE Bron, EA4609 and CIQLE-Lyon Bio Image, Université Lyon, France (J.-C.B.); Institut Hospitalo-Universitaire LIRYC PTIB, Hôpital Xavier Arnozan, av du Haut Lévêque, Pessac, France (P.N.); and Département de Biochimie et Génétique, INSERM UMR_S 1083 - CNRS 6214, CHU Angers, Angers, France (D.B., E.C.).

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http://dx.doi.org/10.1161/ATVBAHA.117.309337DOI Listing
June 2017

Too many numbers and complexity: time to update the classifications of neurogenetic disorders?

J Med Genet 2016 10 30;53(10):647-50. Epub 2015 Oct 30.

Department of Neurology (National Reference Center "Neuropathies Périphériques Rares"), University Hospital Dupuytren, Limoges, France Department of Neurology, University Hospital, Poitiers, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103477DOI Listing
October 2016

Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T.

Ann Neurol 2016 09 4;80(3):477. Epub 2016 Aug 4.

Department of Neurology, (National reference center "Rare Peripheral Neuropathies"), Dupuytren University Hospital, Limoges, France.

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http://dx.doi.org/10.1002/ana.24741DOI Listing
September 2016

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Mol Genet Metab 2016 08 7;118(4):244-54. Epub 2016 Jun 7.

Actelion Pharmaceuticals Ltd., Gewerbestrasse 16, 4123 Allschwil, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.004DOI Listing
August 2016

Delayed-onset Friedreich's ataxia revisited.

Mov Disord 2016 Jan 21;31(1):62-9. Epub 2015 Sep 21.

Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; and Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1002/mds.26382DOI Listing
January 2016

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Front Genet 2015 19;6:311. Epub 2015 Oct 19.

Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier Montpellier, France ; PREMMi, CNRS UMR 6214 - INSERM U1083, Département de Biochimie et Génétique, Université d'Angers, CHU d'Angers Angers, France.

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http://dx.doi.org/10.3389/fgene.2015.00311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609881PMC
November 2015

Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.

J Med Genet 2015 Oct 5;52(10):681-90. Epub 2015 Aug 5.

Department of Neurology (National Reference Center "Neuropathies Périphériques Rares"), University Hospital Dupuytren, Limoges, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103272DOI Listing
October 2015

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Brain 2015 Aug 29;138(Pt 8):2191-205. Epub 2015 May 29.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awv143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553756PMC
August 2015

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

Eur J Med Genet 2014 Nov-Dec;57(11-12):639-42. Epub 2014 Sep 16.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux Cedex, France; Université Bordeaux, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM), EA4576, 33076 Bordeaux Cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2014.09.001DOI Listing
July 2015

[Cystinosis in adults: A systemic disease].

Nephrol Ther 2015 Jun 11;11(3):152-9. Epub 2015 Mar 11.

Service de néphrologie pédiatrique, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France.

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http://dx.doi.org/10.1016/j.nephro.2014.12.001DOI Listing
June 2015

SCA27 is a cause of early-onset ataxia and developmental delay.

Eur J Paediatr Neurol 2015 Mar 5;19(2):271-3. Epub 2014 Dec 5.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejpn.2014.11.013DOI Listing
March 2015

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Brain 2015 Feb 19;138(Pt 2):284-92. Epub 2014 Dec 19.

1 Département de Neurologie, CHU de Montpellier, 34295 Montpellier, France

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http://brain.oxfordjournals.org/content/brain/138/2/284.full
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu353DOI Listing
February 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
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 A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Effectiveness of anti-psychotics and related drugs in the Huntington French-speaking group cohort.

PLoS One 2014 15;9(1):e85430. Epub 2014 Jan 15.

Equipe 01, U955, Inserm, Créteil, France ; Faculté de médecine, Université Paris Est, Créteil, France ; Département d'Etudes Cognitives, Ecole Normale Supérieure, Paris, France ; Centre de référence Maladie de Huntington, Hôpital H. Mondor - A. Chenevier, AP-HP, Créteil, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085430PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893200PMC
December 2014

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Brain 2014 Oct 28;137(Pt 10):2657-63. Epub 2014 Jul 28.

2 Institut National de la Santé et de la Recherche Médicale, INSERM U837, and Université de Lille Nord de France, F-59045, Lille, France 4 Pôle de Biochimie et Biologie moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France

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http://dx.doi.org/10.1093/brain/awu202DOI Listing
October 2014

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

Parkinsonism Relat Disord 2014 Aug 9;20(8):935-7. Epub 2014 May 9.

Service de génétique médicale, CHU de Bordeaux, Hôpital Pellegrin, Bordeaux, France; Laboratoire MRGM: Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.parkreldis.2014.04.026DOI Listing
August 2014

Zebrafish models of human motor neuron diseases: advantages and limitations.

Prog Neurobiol 2014 Jul 3;118:36-58. Epub 2014 Apr 3.

IDÆA-CSIC, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.pneurobio.2014.03.001DOI Listing
July 2014

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

Eur J Paediatr Neurol 2013 Nov 4;17(6):666-70. Epub 2013 Jun 4.

Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2013.05.002DOI Listing
November 2013

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

J Peripher Nerv Syst 2013 Jun;18(2):181-4

Institut des Maladies Neurodégénératives, CNRS UMR 5293, Université de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/jns5.12028DOI Listing
June 2013

A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.

Neuromuscul Disord 2012 Aug 28;22(8):735-41. Epub 2012 Apr 28.

Institut des Maladies Neurodégénératives, CNRS UMR 5293, Univ. Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.nmd.2012.04.001DOI Listing
August 2012

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Eur J Med Genet 2012 May 8;55(5):313-8. Epub 2012 Feb 8.

CHU Bordeaux, Centre de référence des anomalies du développement embryonnaire, Service de Génétique Médicale, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.018DOI Listing
May 2012

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Arch Neurol 2012 Apr;69(4):500-8

Department of Biostatistics and Medical Informatics, and Pitié-Salpêtrière Charles-Foix Clinical Research Unit, Hôpital Pitié-Salpêtrière, 47 boulevard de l'Hôpital, Paris, France.

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http://dx.doi.org/10.1001/archneurol.2011.2713DOI Listing
April 2012

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

Hum Mol Genet 2012 Mar 10;21(5):1004-17. Epub 2011 Nov 10.

INMED, Parc Scientifique de Luminy, Marseille, France; Université de la Mé diterranée, UMR S901 Aix-Marseille 2, Marseille, France; Inserm Unité 901, Marseille, France.

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http://dx.doi.org/10.1093/hmg/ddr531DOI Listing
March 2012

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

Eur J Med Genet 2012 Feb 3;55(2):135-9. Epub 2011 Dec 3.

CHU Bordeaux, Department of Medical Genetics, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2011.11.006DOI Listing
February 2012

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Eur J Med Genet 2012 Feb 5;55(2):151-5. Epub 2012 Jan 5.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux cedex, France.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121200002
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http://dx.doi.org/10.1016/j.ejmg.2011.12.009DOI Listing
February 2012

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Am J Med Genet A 2010 Aug;152A(8):1984-9

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France.

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http://doi.wiley.com/10.1002/ajmg.a.33491
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http://dx.doi.org/10.1002/ajmg.a.33491DOI Listing
August 2010

Homozygosity for dominant mutations increases severity of muscle channelopathies.

Muscle Nerve 2010 Apr;41(4):470-7

Centre de référence des canalopathies musculaires, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1002/mus.21520DOI Listing
April 2010

Ophthalmological features associated with COL4A1 mutations.

Arch Ophthalmol 2010 Apr;128(4):483-9

Laboratoire de Génétique Humaine, Université Victor Segalen Bordeaux 2, Université Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1001/archophthalmol.2010.42DOI Listing
April 2010