المؤلفون: Ivo Gut, Sarah Grotto, Céline Bellesme, Arnold Munnich, Cyril Gitiaux, Jeanne Amiel, Chloé Quélin, Annie Laquerrière, Suonavy Khung, Hanitra Ranjatoelina-Randrianaivo, Luc Rigonnot, Christine Francannet, Loic Quevarec, Jérôme Bouligand, Fabienne Prieur, Alexandra Benachi, Valérie Cormier-Daire, Laurence Perrin, Judith Melki, Pierre-Simon Jouk, Flora Nolent, Tania Attié-Bitach, Delphine Héron, Marie-Line Jacquemont, Claire Beneteau, Fabien Guimiot, Laetitia Lambert, Sandra Mercier, Valérie Biancalana, Fanny Laffargue, Elise Boucher, Jean-Louis Bessereau, P. Landrieu, Annick Toutain, Alain Verloes, Alice Goldenberg, Philippe Latour, Dominique Martin-Coignard, Anne Guiochon-Mantel, Dan Mejlachowicz, Damien Sternberg, Haluk Topaloglu, Bruno Eymard, Géraldine Viot, Catherine Fallet-Bianco, Julien Saada, Isabelle Desguerre, Marie-Hélène Saint-Frison, Catherine Vincent-Delorme, Sophie Blesson, Radka Stoeva, Alexandre J. Vivanti, Martine Bucourt, Pascaline Letard, Jérome Maluenda, Laurence Loeuillet, Lionel Van Maldergem, Didier Lacombe, Marcel Tawk, Michèle Granier, Stanislas Lyonnet, Anne-Lise Delezoide, Andrée Delahaye-Duriez, André Mégarbané, Marie Gonzales, Florence Petit, Juliette Piard, Laurence Faivre, Helene Verhelst, Bettina Bessières, Sabine Sigaudy, Sandra Whalen, Valérie Layet, Yline Capri, Fanny Pelluard, Emanuela Abiusi, Klaus Dieterich, Marie Vincent, Marine Legendre, Dana Jaber, Romulus Grigorescu, Florent Marguet, Eric Bieth, Helge Amthor, Christine Barnerias, Estelle Colin, Laetitia Trestard, Mathilde Nizon, Jelena Martinovic, Daniel Amram, Nicoletta Resta

المصدر: JOURNAL OF MEDICAL GENETICS

مصطلحات موضوعية: musculoskeletal diseases, Artrogriposi múltiple congènita, Settore BIO/18 - GENETICA, human genetics, neuromuscular diseases, Genomics, Biology, CONTRACTURES, CLASSIFICATION, diseases, symbols.namesake, Diagnòstic, Gene mapping, arthrogryposis multiplex congenita, Exome Sequencing, OF-FUNCTION MUTATIONS, Genetics, Medicine and Health Sciences, genomics, Humans, Genetics (clinical), Exome sequencing, Arthrogryposis, Sanger sequencing, Arthrogryposis multiplex congenita, Genetic heterogeneity, SPINAL MUSCULAR-ATROPHY, Proteins, nervous system malformations, DYSTROPHY, Disease gene identification, GENE, Human genetics, Pedigree, ETIOLOGY, Phenotype, symbols, neuromuscular, Genètica, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5ca5c2b4280785da88a26155872ce7Test
https://hdl.handle.net/1854/LU-8759575Test

المؤلفون: Nawal Berber, Sarah Leonard-Louis, Karim Wahbi, Anne Lombès, Pascal Laforêt, Constantinos Papadopoulos, Claude Jardel, Denis Duboc, Tanya Stojkovic, Anthony Behin, Wulfran Bougouin, Bruno Eymard

المصدر: Journal of Inherited Metabolic Disease. 43:459-466

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Mitochondrial Diseases, Mitochondrial disease, Disease, DNA, Mitochondrial, 03 medical and health sciences, Cause of Death, Internal medicine, Diabetes mellitus, Genetics, Humans, Medicine, Genetics (clinical), Retrospective Studies, 030304 developmental biology, Cause of death, 0303 health sciences, business.industry, Incidence, Incidence (epidemiology), 030305 genetics & heredity, Hazard ratio, Middle Aged, Prognosis, medicine.disease, Survival Analysis, Confidence interval, Mutation, Female, France, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c19185dc16c6a2e1d72888e15719e5e7Test
https://doi.org/10.1002/jimd.12185Test

المؤلفون: Marc H. De Baets, Sonia Berrih-Aknin, Laurent Servais, Frédérique Truffault, Nili Avidan, Bruno Eymard, Ariel Miller, Shimrat Mamrut, Mélinée Frenkian, Jiri Pitha, Elsebeth Staun-Ram, Tarek Sharshar

المساهمون: MUMC+: MA Med Staf Spec CTC (9), RS: MHeNs - R3 - Neuroscience

المصدر: Journal of Autoimmunity, 82, 62-73. Elsevier Science

مصطلحات موضوعية: 0301 basic medicine, TREM-1, Bisulfite sequencing, Predisposition, Autoimmunity, Monocytes, Epigenesis, Genetic, Transcriptome, 0302 clinical medicine, IDENTICAL-TWINS, Immunology and Allergy, WIDE ASSOCIATION, Disease chronicity, DNA METHYLATION, DIFFERENTIALLY METHYLATED REGIONS, Genetics, THYMUS, Methylation, Middle Aged, Resolution of inflammation, EPIGENETICS, DNA methylation, Female, Signal Transduction, Adult, EXPRESSION, Immunology, Biology, 03 medical and health sciences, Young Adult, Myasthenia Gravis, Genetic predisposition, Humans, Genetic Predisposition to Disease, Epigenetics, Gene, Genetic Association Studies, Aged, Gene Expression Profiling, Twins, Monozygotic, Triggering Receptor Expressed on Myeloid Cells-1, RHEUMATOID-ARTHRITIS, 030104 developmental biology, Differentially methylated regions, Case-Control Studies, Monocyte function, T-CELLS, CpG Islands, 030217 neurology & neurosurgery, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea58756ea96530bb336a331a4f9c066aTest
https://ora.ox.ac.uk/objects/uuid:66d8358b-4df4-4093-8b5a-e7f074681ae4Test

المؤلفون: Abdallah Fayssoil, Bruno Eymard, Gwenn Ollivier, François Petit, Aurélie Canal, Aleksandra Nadaj-Pakleza, Karim Wahbi, Jean-Yves Hogrel, Anthony Behin, Pascal Laforêt, Valérie Decostre, Kahina Kachetel, Marie De Antonio, Philippe Labrune

المصدر: Molecular Genetics and Metabolism. 122:108-116

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Longitudinal study, Time Factors, Adolescent, Endocrinology, Diabetes and Metabolism, Metabolic myopathy, Glycogen storage disease type III, Biochemistry, Glycogen debranching enzyme, Glycogen Storage Disease Type III, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Muscular Diseases, Internal medicine, Genetics, medicine, Humans, Purdue Pegboard Test, Glycogen storage disease, Longitudinal Studies, Molecular Biology, Retrospective Studies, Hand Strength, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, Clinical trial, Cross-Sectional Studies, Outcome and Process Assessment, Health Care, 030104 developmental biology, Physical therapy, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::327183589a8c23059ac768a984944261Test
https://doi.org/10.1016/j.ymgme.2017.08.010Test

المؤلفون: Jean-Marie Cuisset, Anne Boland, Edoardo Malfatti, Matteo Garibaldi, Jean-François Deleuze, Johann Böhm, Michel Fardeau, Jocelyn Laporte, Xavière Lornage, Norma B. Romero, Raphaël Schneider, Robert-Yves Carlier, Bruno Eymard, Valérie Biancalana, Chrystel Cheraud, Julie D. Thompson

المصدر: Annals of Neurology. 81:467-473

مصطلحات موضوعية: 0301 basic medicine, Genetics, Messenger RNA, Mutation, Genetic heterogeneity, MYPN, Consanguinity, Biology, medicine.disease_cause, Sarcomere, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, medicine, Neurology (clinical), Cap myopathy, Exome, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3edab8dafbde836a327830ac8891ae5fTest
https://doi.org/10.1002/ana.24900Test

المؤلفون: Vincent Tiffreau, Albert David, Jon Andoni Urtizberea, Charlene Chaix, Emmanuelle Salort-Campana, Rafaëlle Bernard, Sabrina Sacconi, Karine Nguyen, André Mégarbané, Fabien Zagnoli, Natacha Broucqsault, Jérôme D. Robin, Shahram Attarian, Frédérique Magdinier, Jean-Marie Cuisset, Véronique Manel, Laurene Gerard, Bruno Eymard, Stéphane Roche, Catherine Vovan, Mélanie Fradin, Nicolas Lévy, Christine Barnerias, Rémi Bellance

المساهمون: Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance Publique - Hôpitaux de Marseille (APHM), Unité de Génétique Médicale, Université Saint-Joseph de Beyrouth (USJ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Service de neurologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], MLab, Dauphine Recherches en Management (DRM), Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Dauphine-PSL, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Service epilepsie sommeil et explorations fonctionnelles neuropédiatriques (HFME), Hospices Civils de Lyon (HCL)-Université de Lyon, Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Activité Physique, Muscle, Santé (EA4488), Université de Lille, Droit et Santé, Service de Neurologie [Brest], Hôpital d'Instruction des Armées 'Clermont-Tonnerre' (HIA), Maladies Neuromusculaires de l'Enfant, Hôpital Roger Salengro [Lille], Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), Roche, Stephane, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2018-105949⟩
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2018-105949⟩

مصطلحات موضوعية: 0301 basic medicine, Genotype, Genetic counseling, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Locus (genetics), Biology, subtelomeres, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Homology (biology), 03 medical and health sciences, 0302 clinical medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Gene duplication, molecular combing, smchd1, Genetics, Humans, Genetic Predisposition to Disease, Genetics (clinical), Alleles, Genetic Association Studies, Chromosomes, Human, Pair 10, Haplotype, facio scapulo humeral dystrophy, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Dystrophy, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Telomere, Subtelomere, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Pedigree, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic Loci, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Chromosome Deletion, Chromosomes, Human, Pair 4, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91b6d947b729bafe9ca7dad31ad10ddbTest
https://pubmed.ncbi.nlm.nih.gov/31010831Test

المؤلفون: David Orlikowski, Frédéric Lofaso, Pascal Crenn, Adam Ogna, Anthony Behin, Robert Carlier, Hélène Prigent, Abdallah Fayssoil, Pascal Laforêt, Guillaume Bassez, Dominique Mompoint, Tanya Stojkovic, Paris Meng, Bruno Eymard, Bernard Clair, Djillali Annane, Lee S. Nguyen

المساهمون: Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France [Paris], Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre d’Investigation Clinique 1429 [Garches] (CIC 1429), Hôpital Raymond Poincaré [AP-HP]-Institut National de la Santé et de la Recherche Médicale (INSERM), CIC Paris Est, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de réanimation medico-chirurgicale [CHU Raymond-Poincaré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Hôpital Raymond Poincaré [AP-HP], Infection et inflammation (2I), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de physiologie et d'explorations fonctionnelles [CHU Raymond-Poincaré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique Paris Est [CHU Pitié Salpêtrière] (CIC Paris-Est), Centre d'investigation clinique pluridisciplinaire [CHU Pitié Salpêtrière] (CIC-P 1421), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Bodescot, Myriam, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

المصدر: PLoS ONE
PLoS ONE, Vol 14, Iss 4, p e0214288 (2019)
PLoS ONE, Public Library of Science, 2019, 14 (4), pp.e0214288. ⟨10.1371/journal.pone.0214288⟩
PLoS ONE, 2019, 14 (4), pp.e0214288. ⟨10.1371/journal.pone.0214288⟩

مصطلحات موضوعية: Male, Vital capacity, Time Factors, Heredity, Genetic Linkage, Vital Capacity, Respiratory System, Velocity, Blood Pressure, Duchenne Muscular Dystrophy, 030204 cardiovascular system & hematology, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Vascular Medicine, Muscular Dystrophies, Diagnostic Radiology, 0302 clinical medicine, Thoracic Diaphragm, Ultrasound Imaging, Medicine and Health Sciences, Myotonic Dystrophy, Respiratory function, Respiratory system, Tidal volume, Multidisciplinary, Respiration, Physics, Radiology and Imaging, Ultrasound, Classical Mechanics, Neuromuscular Diseases, respiratory system, Middle Aged, musculoskeletal system, Diaphragm (structural system), medicine.anatomical_structure, Neurology, X-Linked Traits, Sex Linkage, Genetic Diseases, Physical Sciences, Cardiology, Medicine, Female, Anatomy, psychological phenomena and processes, Research Article, Adult, medicine.medical_specialty, Imaging Techniques, Science, Movement, Diaphragm, Nose, Research and Analysis Methods, Doppler Imaging, Thoracic diaphragm, 03 medical and health sciences, FEV1/FVC ratio, Motion, stomatognathic system, Diagnostic Medicine, Internal medicine, medicine, Pressure, Tidal Volume, Genetics, Humans, Clinical Genetics, business.industry, Biology and Life Sciences, Ultrasonography, Doppler, body regions, 030228 respiratory system, ROC Curve, Case-Control Studies, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0ad524489c277cef7e65b6bd117b62Test
https://pubmed.ncbi.nlm.nih.gov/31017911Test

المؤلفون: Rafael De Cid, Rabah Ben Yaou, Carinne Roudaut, Karine Charton, Sylvain Baulande, France Leturcq, Norma Beatriz Romero, Edoardo Malfatti, Maud Beuvin, Anna Vihola, Audrey Criqui, Isabelle Nelson, Juliette Nectoux, Laurène Ben Aim, Christophe Caloustian, Robert Olaso, Bjarne Udd, Gisèle Bonne, Bruno Eymard, Isabelle Richard

المصدر: Neurology. 85:2126-2135

مصطلحات موضوعية: Male, medicine.disease_cause, Article, Frameshift mutation, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Humans, Connectin, Muscular dystrophy, Allele, Frameshift Mutation, Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, biology, Calpain, Middle Aged, medicine.disease, Muscular Dystrophy, Emery-Dreifuss, 3. Good health, Phenotype, biology.protein, Female, Titin, Neurology (clinical), Cardiomyopathies, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9754c184032b8cf7fd847a2173c28bdTest
https://doi.org/10.1212/wnl.0000000000002200Test

المؤلفون: T. Stojkovic, Michel Fardeau, Roseli Corazzini, Pascal Laforêt, A. Madelaine, Alzira Alves de Siqueira Carvalho, Vinicius Gomes da Silva, Emmanuele Lacene, Guy Brochier, Anthony Behin, Konstantinos Papadopoulos, Bruno Eymard, Norma B. Romero, Clémance Labasse

المصدر: Genetic testing and molecular biomarkers. 22(6)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Protein aggregation, Biology, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Myofibrillar myopathy, Humans, Age of Onset, Muscle, Skeletal, Genetics (clinical), Aged, Demography, Genes, Dominant, Retrospective Studies, Genetics, Genetic heterogeneity, General Medicine, Middle Aged, Genetic association analysis, 030104 developmental biology, Cohort, Mutation, Female, France, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf53debbfe256a1935d6cc4818c02bbfTest
https://pubmed.ncbi.nlm.nih.gov/29924655Test

المؤلفون: Anne Boland, Maud Beuvin, Gisèle Bonne, Cécile Masson, Thomas Brand, Ralf Schindler, R. Ben-Yaou, Bruno Eymard, Isabelle Nelson

المساهمون: Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Plate Forme Paris Descartes de Bioinformatique (BIP-D), Université Paris Descartes - Paris 5 (UPD5), Centre National de Génotypage (CNG), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: 22nd International Annual Congress of the World Muscle Society (WMS)
22nd International Annual Congress of the World Muscle Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S139-S140, 2017, ⟨10.1016/j.nmd.2017.06.172⟩

مصطلحات موضوعية: 0301 basic medicine, Genetics, muscular dystrophy, Splice site mutation, [SDV]Life Sciences [q-bio], Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Neurology, POPDC1, First-degree atrioventricular block, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Muscular dystrophy, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b41e574692244430c28ce8b4e20206Test
https://hal.science/hal-03972940Test