부산대학교 도서관

Soulages, A. ; Flabeau, O. ; Duval, F. ; Martin-Négrier, M.-L. ; Cossée, M. ; Solé, G.

In EMC – Neurologia

Gorokhova, S.; Pion, E.; Cossée, M.; Biancalana, V.; Bourdain, C. Acquaviva; Bouchet-Seraphin, C.; Fauré, J.; Leturcq, F.; Menassa, R.; Metay, C.; Michel-Calemard, L.; Nectoux, J.; Petit, F.; Rendu, J.; Richard, P.; Sternberg, D.; Vuillaumier-Barrot, S.; Attarian, S.; Krahn, M.

Neuromuscular Disorders. 43

Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Parmar JM; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, 394036, Russian Federation.; Ampleeva M; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.; Zakharova EY; Research Centre for Medical Genetics, Moscow, 115522, Russia.; Chekmareva IA; Federal State Budgetary Institution 'National Medical Research Center of Surgery named after A. Vishnevsky', Ministry of Health of the Russian Federation, Moscow, 117997, Russia.; Shirokova KS; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, 394036, Russian Federation.; Atiakshin D; RUDN University, Moscow, 117198, Russian Federation.; van Beek R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboudumc, Nijmegen, 6525, The Netherlands.; Medici E; Department of Neurology, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Nemoto J; Department of Neurology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, 755-8505, Japan.; Komaki H; Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Okabe T; Okabe Children's Clinic, Toyama, 939-8211, Japan.; Kimoto Y; Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, 889-1692, Japan.; Tokito T; Tokito Clinic Rheumatology and Orthopedic Surgery, Shimonoseki, Yamaguchi, 752-0976, Japan.; Nakanowatari M; Department of Neurology, Ushioda General Hospital, Yokohama, Kanagawa, 230-0001, Japan.; Oya Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Estrella EA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Kunkel LM; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Osei-Owusu I; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Austin-Tse C; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Donnell-Luria A; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Mangilog B; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Genetti CA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Valivullah ZM; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; D'Amico A; Neuromuscular and neurodegenerative disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Sole G; Neurology and Neuromuscular Diseases Department, Neuromuscular Reference Centre AOC, FILNEMUS, EURO-NMD, Pellegrin Hospital, Bordeaux University Hospitals, Bordeaux, 33000, France.; Martin-Négrier ML; Pathology Department, University Hospital of Bordeaux, France. Univ. Bordeaux, CNRS UMR5293, Bordeaux, 33076, France.; Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Milic Rasic V; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kovacevic G; Mother and Child Health Care Institute, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kosac A; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Moreno CAM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Gontijo Camelo C; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Habib C; Clinical Genetics, Austin Health, Melbourne, VIC, 3084, Australia.; Fahey MC; Department of Paediatrics Monash University, Melbourne, VIC, 3168, Australia.; Beggs AH; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Poulsen NS; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Straub V; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Savarese M; Folkhälsan Research Center, Helsinki, 00290, Finland.; Tasca G; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, 6525, The Netherlands.; Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Udd B; Folkhälsan Research Center, Helsinki, 00290, Finland.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Sabbagh Q; Montpellier University, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France. q-sabbagh@chu-montpellier.fr.; Larrieux M; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France.; Schneider A; Montpellier University, Laboratory of Cytogenomics, University Hospital of Montpellier, Montpellier, France.; Theze C; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France.; Vincent MC; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France.; Montpellier University, INSERM, CNRS, PhyMedExp, Montpellier, France.; Coubes C; Montpellier University, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France.; Puechberty J; Montpellier University, Laboratory of Cytogenomics, University Hospital of Montpellier, Montpellier, France.; Renard S; Department of Obstetrics and Gynecology, Perpignan Hospital, Perpignan, France.; Koenig M; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France.; Montpellier University, INSERM, CNRS, PhyMedExp, Montpellier, France.; Pellestor F; Montpellier University, Laboratory of Cytogenomics, University Hospital of Montpellier, Montpellier, France.; Cossée M; Montpellier University, Molecular Diagnostic Laboratory, University Hospital of Montpellier, Montpellier, France.; Montpellier University, INSERM, CNRS, PhyMedExp, Montpellier, France.; Gatinois V; Montpellier University, Laboratory of Cytogenomics, University Hospital of Montpellier, Montpellier, France.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Benkirane M; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France; PhyMedExp Unit, University of Montpellier-CNRS UMR 9214, INSERM U1046, Montpellier, France; Department of Medical Genetics, Laboratory of Genomics Medicine, Sorbonne University, Hôpital de la Pitié-Salpêtrière, Assistance Publique- Hôpitaux de Paris (AP-HP), Paris, France. Electronic address: m-benkirane@chu-montpellier.fr.; Marelli C; Montpellier University, EPHE, INSERM, Montpellier, France; Expert Center for Neurogenetic Diseases, CHU de Montpellier, Montpellier, France.; Choumert A; Department of Rare Neurological Diseases, CHU de la Réunion, Saint-Pierre, France.; Goizet C; Neurogenetics Reference Centre, Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.; Patat O; Department of Clinical Genetics, Purpan Hospital, CHU de Toulouse, Toulouse, France.; Ewenczyk C; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.; Anheim M; Department of Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France.; Mégarbané A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon; Institut Jérome Lejeune, Paris, France.; Larrieu L; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France.; Charlin C; Department of Rare Neurological Diseases, CHU de la Réunion, Saint-Pierre, France.; Ory-Magne F; French Clinical Research Network for Parkinson's Disease and Movement Disorders (NS-PARK), Department of Neurosciences, Parkinson Expert Centre, Clinical Investigation Center CIC1436, Toulouse University Hospital INSERM, University of Toulouse 3, Toulouse, France.; Chaussenot A; Department of Medical Genetics, National Centre for Mitochondrial Diseases, CHU de Nice, France.; Fradin M; Department of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France.; Guissart C; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France.; Pointaux M; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France.; Cossée M; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France; PhyMedExp Unit, University of Montpellier-CNRS UMR 9214, INSERM U1046, Montpellier, France.; Vincent MC; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France; PhyMedExp Unit, University of Montpellier-CNRS UMR 9214, INSERM U1046, Montpellier, France.; Bergougnoux A; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France; PhyMedExp Unit, University of Montpellier-CNRS UMR 9214, INSERM U1046, Montpellier, France.; Hersent C; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France; PhyMedExp Unit, University of Montpellier-CNRS UMR 9214, INSERM U1046, Montpellier, France.; Bareil C; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France.; Roubertie A; Department of Pediatric Neurology and Reference Center for Neuromuscular Diseases AOC, Gui de Chauliac Hospital, CHU de Montpellier, France; Institut des Neurosciences de Montpellier, INSERM, Montpellier, France.; Fluchère F; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France.; Renaud M; Departments of Genetics and of Neurology, CHU de Nancy, Nancy, France; INSERM U1256 NGERE - Nutrition - Génétique et Exposition aux Risques Environnementaux, Université de Lorraine, Nancy, France.; Kremer L; Department of Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France.; Tranchant C; Department of Neurology, Hôpitaux Universitaires de Strasbourg, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France.; Attarian S; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France.; Odent S; Department of Clinical Genetics, Centre de Référence Maladies Rares Anomalies du Développement, CHU de Rennes, Rennes, France.; Laugel V; Department of Pediatrics, Hautepierre Hospital, CHU de Strasbourg, Strasbourg, France.; Walther-Louvier U; Department of Pediatric Neurology and Reference Center for Neuromuscular Diseases AOC, Gui de Chauliac Hospital, CHU de Montpellier, France.; Desnous B; Department of Pediatrics, La Timone Hospital, CHU de Marseille, Marseille, France.; Bieth E; Department of Clinical Genetics, Purpan Hospital, CHU de Toulouse, Toulouse, France.; Husson I; Department of Pediatrics, Robert Debré Hospital, APHP, Paris, France.; Azulay JP; Department of Neurology, La Timone Hospital, CHU de Marseille, Marseille, France.; Rivier F; PhyMedExp Unit, University of Montpellier-CNRS UMR 9214, INSERM U1046, Montpellier, France; Department of Pediatric Neurology and Reference Center for Neuromuscular Diseases AOC, Gui de Chauliac Hospital, CHU de Montpellier, France.; Doray B; Department of Medical Genetics, CHU de la Réunion, Saint-Denis, France.; Durr A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.; Aouinti S; IDESP, INSERM, Premedical INRIA, University of Montpellier, CHU de Montpellier, Montpellier, France.; Molinari N; IDESP, INSERM, Premedical INRIA, University of Montpellier, CHU de Montpellier, Montpellier, France.; Koenig M; Laboratoire de Génétique Moléculaire de Maladies Rares, Site Unique de Biologie, CHU de Montpellier, Montpellier, France; PhyMedExp Unit, University of Montpellier-CNRS UMR 9214, INSERM U1046, Montpellier, France. Electronic address: michel.koenig@inserm.fr.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

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

Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)

Cabello-Aguilar S; Laboratoire de Biologie des Tumeurs Solides, Département de Pathologie et Oncobiologie, CHU Montpellier, Université de Montpellier, 34295, Montpellier, France.; Montpellier BioInformatique pour le Diagnostic Clinique (MoBiDiC), Plateau de Médecine Moléculaire et Génomique (PMMG), CHU Montpellier, 34295, Montpellier, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, Institut Universitaire de Recherche Clinique, CHU Montpellier, 34090 Montpellier, France.; Montpellier BioInformatique pour le Diagnostic Clinique (MoBiDiC), Plateau de Médecine Moléculaire et Génomique (PMMG), CHU Montpellier, 34295, Montpellier, France.; Delmas JC; Laboratoire de génétique des maladies rares et auto-inflammatoires, centre de référence des maladies auto-inflammatoires rares et des amyloses (CeRéMAIA), CHU de Montpellier, INSERM UMR1183, 34295, Montpellier, France.; Montpellier BioInformatique pour le Diagnostic Clinique (MoBiDiC), Plateau de Médecine Moléculaire et Génomique (PMMG), CHU Montpellier, 34295, Montpellier, France.; Bourbia O; Laboratoire de Biologie des Tumeurs Solides, Département de Pathologie et Oncobiologie, CHU Montpellier, Université de Montpellier, 34295, Montpellier, France.; Montpellier BioInformatique pour le Diagnostic Clinique (MoBiDiC), Plateau de Médecine Moléculaire et Génomique (PMMG), CHU Montpellier, 34295, Montpellier, France.; Senal R; Laboratoire de Biologie des Tumeurs Solides, Département de Pathologie et Oncobiologie, CHU Montpellier, Université de Montpellier, 34295, Montpellier, France.; Cossée M; Laboratoire de Génétique Moléculaire, Institut Universitaire de Recherche Clinique, CHU Montpellier, 34090 Montpellier, France.; PhyMedExp, Université de Montpellier, INSERM, CNRS, 34295, Montpellier, France.; Ardouin O; Montpellier BioInformatique pour le Diagnostic Clinique (MoBiDiC), Plateau de Médecine Moléculaire et Génomique (PMMG), CHU Montpellier, 34295, Montpellier, France.; Solassol J; Laboratoire de Biologie des Tumeurs Solides, Département de Pathologie et Oncobiologie, CHU Montpellier, Université de Montpellier, 34295, Montpellier, France.; Institut de Recherche en Cancérologie de Montpellier (IRCM), INSERM U1194, Université de Montpellier, 34090, Montpellier, France.; Vendrell JA; Laboratoire de Biologie des Tumeurs Solides, Département de Pathologie et Oncobiologie, CHU Montpellier, Université de Montpellier, 34295, Montpellier, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101756213 Publication Model: eCollection Cited Medium: Internet ISSN: 2631-9268 (Electronic) Linking ISSN: 26319268 NLM ISO Abbreviation: NAR Genom Bioinform Subsets: MEDLINE

Comel M; Institut Universitaire de Recherche Clinique, Montpellier, Occitanie, France.; Lamairia M; Institut Universitaire de Recherche Clinique, Montpellier, Occitanie, France.; INSERM U1046, Montpellier, Occitanie, France.; Boute O; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, Hauts-de-France, France.; Cenni C; Hôpital Universitaire Caremeau, Nîmes, Occitanie, France.; Bergougnoux A; Institut Universitaire de Recherche Clinique, Montpellier, Occitanie, France.; Cossée M; Institut Universitaire de Recherche Clinique, Montpellier, Occitanie, France.; INSERM U1046, Montpellier, Occitanie, France.; Koenig M; Institut Universitaire de Recherche Clinique, Montpellier, Occitanie, France.; INSERM U1046, Montpellier, Occitanie, France.; Mansard L; Institut Universitaire de Recherche Clinique, Montpellier, Occitanie, France.; Vincent MC; Institut Universitaire de Recherche Clinique, Montpellier, Occitanie, France.; INSERM U1046, Montpellier, Occitanie, France.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Benkirane M; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Department of Clinical Research, PhyMedExp Univ Montpellier, CNRS UMR 9214, INSERM U1046, 34090 Montpellier, France.; Department of Medical Genetics, Laboratory of Genomics Medicine, Sorbonne University, APHP, 75006 Paris, France.; Bonhomme M; Cell Biology Research Department, CRBM (Centre de Recherche en Biologie cellulaire de Montpellier), CNRS, Université de Montpellier, 34293 Montpellier, France.; Morsy H; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria 21561, Egypt.; Safgren SL; Department of Oncology Research, Mayo Clinic, Rochester, MN 55905, USA.; Marelli C; MMDN, Université de Montpellier, EPHE, INSERM, Montpellier, France.; Expert center for Neurogenetic Diseases, CHU of Montpellier, 34095 Montpellier, France.; Chaussenot A; Department of Medical Genetics, CHU of Nice, 06000 Nice, France.; Smedley D; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London EC1M 6BQ, UK.; Cipriani V; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London EC1M 6BQ, UK.; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; UCL Genetics Institute, University College London, London WC1E 6BT, UK.; de Sainte-Agathe JM; Department of Medical Genetics, Laboratory of Genomics Medicine, Sorbonne University, APHP, 75006 Paris, France.; Ding C; Institute of human genetics, University of Medicine Mainz, Mainz 55128, Germany.; Larrieu L; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Vestito L; William Harvey Research Institute, Clinical Pharmacology and Precision Medicine, Queen Mary University of London, London EC1M 6BQ, UK.; Margot H; Department of Medical Genetics, CHU of Bordeaux, 33404 Bordeaux, France.; Lesca G; Department of Medical Genetics, University Hospitals of Lyon, and Université Claude Bernard Lyon1, 69500 Lyon, France.; Ramond F; Department of Medical Genetics, CHU of Saint-Etienne, 42055 Saint-Etienne, France.; Castrioto A; Neurology Department, Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38706 Grenoble, France.; Baux D; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Institut des Neurosciences Montpellier, INM, INSERM, 34000 Montpellier, France.; Montpellier BioInformatics for Clinical Diagnosis (MOBIDIC), Molecular Medicine and Genomics Platform (PMMG), CHU Montpellier, 34295 Montpellier, France.; Verheijen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Sansa E; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Institute of Neurology, London WC1N 3BG, UK.; Giunti P; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Institute of Neurology, London WC1N 3BG, UK.; Haetty A; Institut des Neurosciences Montpellier, INM, INSERM, 34000 Montpellier, France.; Bergougnoux A; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Department of Clinical Research, PhyMedExp Univ Montpellier, CNRS UMR 9214, INSERM U1046, 34090 Montpellier, France.; Pointaux M; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Ardouin O; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Montpellier BioInformatics for Clinical Diagnosis (MOBIDIC), Molecular Medicine and Genomics Platform (PMMG), CHU Montpellier, 34295 Montpellier, France.; Van Goethem C; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Montpellier BioInformatics for Clinical Diagnosis (MOBIDIC), Molecular Medicine and Genomics Platform (PMMG), CHU Montpellier, 34295 Montpellier, France.; Vincent MC; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Hadjivassiliou M; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield S10 2HQ, UK.; Cossée M; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Department of Clinical Research, PhyMedExp Univ Montpellier, CNRS UMR 9214, INSERM U1046, 34090 Montpellier, France.; Rouaud T; Department of Neurology, CHU of Nantes, 44000 Nantes, France.; Bartsch O; Institute of human genetics, University of Medicine Mainz, Mainz 55128, Germany.; Freeman WD; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.; Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA.; Klee EW; Department of Oncology Research, Mayo Clinic, Rochester, MN 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905, USA.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.; Debant A; Cell Biology Research Department, CRBM (Centre de Recherche en Biologie cellulaire de Montpellier), CNRS, Université de Montpellier, 34293 Montpellier, France.; Koenig M; Laboratoire de Génétique moléculaire, Institut Universitaire de Recherche Clinique, CHU of Montpellier, 34090 Montpellier, France.; Department of Clinical Research, PhyMedExp Univ Montpellier, CNRS UMR 9214, INSERM U1046, 34090 Montpellier, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Pion E; Filnemus, laboratoire de génétique moléculaire, CHU Montpellier, Montpellier, France.; Bonne G; Sorbonne Université, Inserm, Institut de Myologie, Centre de recherche en myologie, Paris, France.; Atalaia A; Sorbonne Université, Inserm, Institut de Myologie, Centre de recherche en myologie, Paris, France.; Salort-Campana E; Service de pathologies neuromusculaires, Hôpital de la Timone, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Gorokhova S; Aix-Marseille Université, Inserm, Marseille Medical Genetics, U1251 ; Département de Génétique Médicale, Hôpital Timone Enfants, APHM, Marseille, France.; Attarian S; Centre de référence des maladies neuromusculaires et de la SLA, CHU La Timone Filnemus, Euro-NMD, AIX-Marseille Université.; Cossée M; Laboratoire de Génétique Moléculaire, CHU Montpellier, PhyMedExp, Université de Montpellier, Inserm, CNRS, Montpellier.; Krahn M; Aix-Marseille Université, Inserm, Marseille Medical Genetics, U1251 ; Département de Génétique Médicale, Hôpital Timone Enfants, APHM, Marseille, France.

Publisher: EDK Country of Publication: France NLM ID: 8710980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1958-5381 (Electronic) Linking ISSN: 07670974 NLM ISO Abbreviation: Med Sci (Paris) Subsets: MEDLINE

Bou Akar R; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France.; Giraud-Triboult K; CECS/ISTEM/AFM, StemCARE Platform, Research and Technological Innovation Team, Corbeil-Essonnes, France.; El Kassar L; CECS/ISTEM/AFM, StemCARE Platform, Research and Technological Innovation Team, Corbeil-Essonnes, France.; Mahiou H; CECS/ISTEM/AFM, StemCARE Platform, Research and Technological Innovation Team, Corbeil-Essonnes, France.; Fragner P; CECS/ISTEM/AFM, StemCARE Platform, Research and Technological Innovation Team, Corbeil-Essonnes, France.; Lesueur L; CECS/ISTEM/AFM, StemCARE Platform, Research and Technological Innovation Team, Corbeil-Essonnes, France.; Chose O; CECS/ISTEM/AFM, StemCARE Platform, Research and Technological Innovation Team, Corbeil-Essonnes, France.; Esselin F; Centre de référence des maladies neuromusculaires CHU Gui de Chauliac, Montpellier, France.; Cossée M; CHRU Montpellier, Laboratoire de Génétique moléculaire, Montpellier, France.; Benchoua A; CECS/ISTEM/AFM, StemCARE Platform, Research and Technological Innovation Team, Corbeil-Essonnes, France.; Relaix F; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France.; Malfatti E; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Créteil, France. Electronic address: edoardo.malfatti@aphp.fr.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Bessis D; Department of Dermatology and Reference Center for Rare Skin Diseases (MAGEC), Saint-Eloi Hospital, University of Montpellier and INSERM U1058, Montpellier, France.; Poujade L; Department of Dermatology and Reference Center for Rare Skin Diseases (MAGEC), Saint-Eloi Hospital, University of Montpellier and INSERM U1058, Montpellier, France.; Cossée M; Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France.; Boursier G; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; Barat-Houari M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; Durand L; Department of Pathology, Saint-Eloi Hospital and University of Montpellier, Montpellier, France.; Aguilar SC; Laboratory of Solid Tumor Biology, Department of Pathology and Oncology, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; Solassol J; Laboratory of Solid Tumor Biology, Department of Pathology and Oncology, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; Willems M; Department of Medical Genetics, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; Vendrell J; Laboratory of Solid Tumor Biology, Department of Pathology and Oncology, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

Da Cunha D; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France.; Miro J; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, CHU de Montpellier, Montpellier, France.; Montpellier BioInformatique Pour Le Diagnostic Clinique (MOBIDIC), Plateau de Médecine Moléculaire Et Génomique (PMMG), CHU Montpellier, 34295, Montpellier, France.; Notarnicola C; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France.; Hugon G; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France.; Carnac G; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France.; Cossée M; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France.; Laboratoire de Génétique Moléculaire, CHU de Montpellier, Montpellier, France.; Koenig M; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France.; Laboratoire de Génétique Moléculaire, CHU de Montpellier, Montpellier, France.; Tuffery-Giraud S; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, France. sylvie.tuffery@inserm.fr.

Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

Onnée M; Institut Mondor de Recherche Biomédicale, Université Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale U955, 94010 Créteil, France.; Bénézit A; Neurologie et Réanimation Pédiatrique, Assistance Publique-Hôpitaux de Paris, Université Paris Saclay, Département Médico-Universitaire Santé de l'Enfant et de l'Adolescent, Hôpital Raymond Poincaré, 92380 Garches, France.; Bastu S; Institut Mondor de Recherche Biomédicale, Université Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale U955, 94010 Créteil, France.; Nadaj-Pakleza A; Centre de Référence des Maladies Neuromusculaires Nord Est Ile-de-France, Service de Neurologie, Hôpitaux Universitaires de Strasbourg, 67200 Strasbourg, France.; European Reference Network, EURO-NMD, Neuromuscular Centre at Hautepierre Hospital, Hôpitaux Universitaires de Strasbourg, 67200 Strasbourg, France.; Lannes B; Département de Pathologie, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France.; Ader F; Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Département Médico-Universitaire BioGem, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, 75013 Paris, France.; Institut National de la Santé et de la Recherche Médicale UMRS1166, Université Paris Cité, 75006 Paris, France.; Thèze C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, 34095 Montpellier, France.; Cintas P; Centre de Référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbes), Département de Neurologie, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, 31059 Toulouse, France.; Cances C; Centre de Référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbes), Unité de Neurologie Pédiatrique, Hôpital des Enfants, Centre Hospitalier Universitaire de Toulouse, 31059 Toulouse, France.; Carlier RY; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Universitaire Paris Saclay, Département Médico-Universitaire Smart Imaging, Service d'Imagerie Médicale, Institut National de la Santé et de la Recherche Médicale UMR1179, Hôpital Raymond Poincaré, 92380 Garches, France.; Metay C; Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Centre de Génétique Moléculaire et Chromosomique, Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière, 75013 Paris, France.; Cossée M; Centre de Référence des Maladies Neuromusculaires AOC (Atlantique-Occitanie-Caraïbes), Département de Neurologie, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, 31059 Toulouse, France.; PhyMedExp, Université de Montpellier, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, 34295 Montpellier, France.; Malfatti E; Institut Mondor de Recherche Biomédicale, Université Paris Est Créteil, Institut National de la Santé et de la Recherche Médicale U955, 94010 Créteil, France.; Assistance Publique-Hôpitaux de Paris, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Hôpital Henri Mondor, 94000 Créteil, France.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE

Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Parmar JM; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, Russian Federation.; Ampleeva M; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.; Zakharova EY; Research Centre for Medical Genetics, Moscow, Russia.; Chekmareva IA; Federal State Budgetary Institution 'National Medical Research Center of Surgery named after A. Vishnevsky', Ministry of Health of the Russian Federation, Moscow, Russia.; Shirokova KS; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, Russian Federation.; Atiakshin D; RUDN University, Moscow, Russian Federation.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.; Kamsteeg EJ; Dept Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Medici E; Dept Neurology, Erasmus University Medical Center Rotterdam, The Netherlands.; Kaat LD; Dept Clinical Genetics, Erasmus University Medical Center Rotterdam, The Netherlands.; Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Estrella EA; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School.; Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Kunkel LM; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Mangilog B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; D'Amico A; Neuromuscular and neurodegenerative disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Sole G; Neurology and Neuromuscular Diseases Department, Neuromuscular Reference Centre AOC, FILNEMUS, EURO-NMD, Pellegrin Hospital, Bordeaux University Hospitals, Bordeaux, France.; Martin-Négrier ML; Pathology Department, University Hospital of Bordeaux, France. Univ. Bordeaux, CNRS UMR5293, Bordeaux, France.; Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research,Boston Children's Hospital, Harvard Medical School, Boston MA 02115, USA.; Valivullah ZM; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.; Milic V; Clinic for Neurology and Psychiatry for Children and Youth,Belgrade,Serbia.; Kovacevic G; Mother and Child Health Care Institute,Belgrade,Serbia.; Kosac A; Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia.; Moreno CAM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.; Camelo CG; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.; Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.; Fahey MC; Department of Paediatrics Monash University, Melbourne, VIC, Australia.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research,Boston Children's Hospital, Harvard Medical School, Boston MA 02115, USA.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Straub V; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Tasca G; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Voermans N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.; Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Udd B; Folkhälsan Research Center, Helsinki, Finland.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Perrin, A.; Morales, R. Juntas; Chapon, F.; Thèze, C.; Lacourt, D.; Pégeot, P.; Uro-Coste, E.; Giovannini, D.; Leboucq, N.; Mallaret, M.; Rigau, V.; Gaudon, K.; Richard, P.; Koenig, M.; Métay, C.; Cossée, M.

Neuromuscular Disorders. 31:S159-S159

Beuvin, M.; Lacène, E.; Labasse, C.; Brochier, G.; Madelaine, A.; Ben Yaou, R.; Stojkovic, T.; Sole, G.; Juntas-Morales, R.; Martin-Negrier, M.; Duval, F.; Nelson, I.; Nectoux, J.; Leturcq, F.; Cossée, M.; Sternberg, D.; Eymard, B.; Bonne, Gisèle; Evangelista, T.; Romero, N.

Villar-Quiles, R.; Duband-Goulet, I.; Cabet, E.; Davignon, L.; Genetti, C.; Gidaro, T.; Koparir, A.; Yuksel, A.; Coppens, S.; Deconinck, N.; Pierce-Hoffman, E.; Juntas-Morales, R.; Cossée, M.; Servais, L.; Olivé, M.; Beggs, A.; Böhm, J.; Ferreiro, A.

Neuromuscular Disorders. 29:S136-S137

Wahbi, K. ; Béhin, A. ; Bécane, H.M. ; Leturcq, F. ; Cossée, M. ; Laforêt, P. ; Stojkovic, T. ; Carlier, P. ; Toussaint, M. ; Gaxotte, V. ; Cluzel, P. ; Eymard, B. ; Duboc, D.

In International Journal of Cardiology 20 September 2013 168(1):76-79

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Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE