المؤلفون: Berardo, Andrés, Lornage, Xavière, Johari, Mridul^{Aff3, Aff4}, Evangelista, Teresinha^{Aff5, Aff6}, Cejas, Claudia, Barroso, Fabio, Dubrovsky, Alberto, Bui, Mai Thao, Brochier, Guy^{Aff5, Aff6}, Saccoliti, Maria, Bohm, Johann, Udd, Bjarne^{Aff4, Aff10}, Laporte, Jocelyn, Romero, Norma Beatriz^{Aff5, Aff6}, Taratuto, Ana Lia

المصدر: Journal of Neurology. 266(10):2524-2534

المؤلفون: Fabio Barroso, Claudia Cejas, Teresinha Evangelista, Mai Thao Bui, Ana Lia Taratuto, Norma B. Romero, Maria Saccoliti, Johann Böhm, Bjarne Udd, Guy Brochier, Alberto Dubrovsky, Xavière Lornage, Andrés Berardo, Jocelyn Laporte, Mridul Johari

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Folkhälsan Research Center, Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, 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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Instituto de Investigaciones Neurologicas (FLENI), Instituto de Investigaciones Neurologicas, Hospital Universitario Fundacion Favaloro, University of Tampere [Finland], Department of Medical and Clinical Genetics, University of Helsinki, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Journal of Neurology
Journal of Neurology, 2019, 266 (10), pp.2524-2534. ⟨10.1007/s00415-019-09437-3⟩

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Argentina, Limb girdle, Thigh, Biology, 3124 Neurology and psychiatry, 03 medical and health sciences, 0302 clinical medicine, medicine, Autophagy, Humans, Heterogeneous Nuclear Ribonucleoprotein D0, 030212 general & internal medicine, Muscular dystrophy, Heterogeneous-Nuclear Ribonucleoprotein D, Myopathy, Rimmed vacuolar myopathy, Aged, Muscle biopsy, medicine.diagnostic_test, LGMDD3 HNRNPDL-related, 3112 Neurosciences, Rimmed vacuoles, HNRNPDL gene, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Pedigree, medicine.anatomical_structure, Phenotype, Neurology, Muscular Dystrophies, Limb-Girdle, Mutation, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Distal lower limb muscle weakness, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f591a639a545d766ed37c77a813563f
https://pubmed.ncbi.nlm.nih.gov/31267206