المؤلفون: Armelle Magot, David H. Adams, Sabrina Sacconi, Yann Péréon, Sarah Leonard Louis, Marie Subréville, Marion Masingue, Raul Juntas-Morales, Jean-Baptiste Noury, Steeve Genestet, Emilien Delmont, Jean-Baptiste Chanson, Marie-Hélène Violleau, Céline Labeyrie, Andoni Echaniz-Laguna, Julien Cassereau, Sara Fernandes, Douniazed Yahiaoui, Shahram Attarian, Sadia Beloribi-Djefaflia, Antoine Soulages, Céline Tard, Nathalie Bonello-Palot, Nicolas Lévy, Guilhem Solé, Tanya Stojkovic

المساهمون: 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), 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), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE)

المصدر: European Journal of Neurology
European Journal of Neurology, 2021, 28 (9), pp.2913-2921. ⟨10.1111/ene.14948⟩

مصطلحات موضوعية: Oncology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Late onset, Disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Charcot-Marie-Tooth Disease, Internal medicine, Humans, Medicine, 030212 general & internal medicine, Gene, Genetic Association Studies, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Myelin protein zero, Pathophysiology, Clinical trial, Phenotype, Neurology, Neurology (clinical), business, Myelin P0 Protein, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ffd98e1f12584c71c5e677c49971516Test
https://hal-amu.archives-ouvertes.fr/hal-03663235Test

المؤلفون: Jean-Baptiste, Noury, Thierry, Maisonobe, Pascale, Richard, Valérie, Delague, Edoardo, Malfatti, Tanya, Stojkovic

المصدر: Musclenerve. 57(2)

مصطلحات موضوعية: Heart Diseases, Biopsy, Electrodiagnosis, Mallory Bodies, Magnetic Resonance Imaging, Muscular Dystrophies, Young Adult, Scoliosis, Charcot-Marie-Tooth Disease, Mutation, Humans, Female, Apoptosis Regulatory Proteins, Hereditary Sensory and Motor Neuropathy, Muscle, Skeletal, Adaptor Proteins, Signal Transducing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ca82f14de9dfc3cdc05d25358a699483Test
https://pubmed.ncbi.nlm.nih.gov/28224639Test