نتائج البحث - "France Leturcq"

المساهمون: Human Genetics Department [LAU Gilbert and Rose-Marie Chagoury School of Medicine], Gilbert and Rose-Marie Chagoury School of Medicine [Lebanese American University], Lebanese American University (LAU)-Lebanese American University (LAU), Institut Jérôme Lejeune, Centre for Arab Genomic Studies (CAGS), Hôtel-Dieu de France (HDF), Université Saint-Joseph de Beyrouth (USJ), Saint George Hospital University Medical Center [UOB LIBAN], University of Balamand [Liban] (UOB), Lebanese University [Beirut] (LU), Lebanese American University (LAU), Neuropediatrics Department [Beirut, Lebanon], Rafic Hariri University Hospital [Beirut, Lebanon], Department of Neurology, Lebanese University Hospital-Geitaoui, Department of Laboratory Science and Technology, American University of Science and Technology (AUST), Institut de génétique humaine (IGH), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), 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), Hôpital de la Timone [CHU - APHM] (TIMONE), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Gestionnaire, Hal Sorbonne Université

المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.193-210. ⟨10.3233/JND-210652⟩

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Disease, [SDV.GEN] Life Sciences [q-bio]/Genetics, Muscular Dystrophies, Muscular Atrophy, Spinal, Young Adult, Charcot-Marie-Tooth Disease, DMD, medicine, Genetics, Humans, SMA, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Muscular dystrophy, Lebanon, Motor Neuron Disease, education, Child, Retrospective Studies, education.field_of_study, FSHD, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Incidence (epidemiology), CMT, Infant, Spinal muscular atrophy, Middle Aged, medicine.disease, LGMD, Muscular Dystrophy, Duchenne, Neurology, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Cohort, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neurology (clinical), neuromuscular, business, Cohort study, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ef5fc9d8231e08324d8b33ef984239Test
https://pubmed.ncbi.nlm.nih.gov/34602496Test

27

Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion

المؤلفون: Marco Spinazzi, Jerome Poupiot, Julien Cassereau, France Leturcq, Laurent Brunereau, Edoardo Malfatti, Isabelle Richard, Franck Letournel

المساهمون: Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Généthon, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Henri Mondor, Richard, Isabelle

المصدر: Neuromuscular Disorders
Neuromuscular Disorders, 2021, 31 (5), pp.450-455. ⟨10.1016/j.nmd.2021.02.012⟩
Neuromuscular Disorders, Elsevier, 2021, 31 (5), pp.450-455. ⟨10.1016/j.nmd.2021.02.012⟩

مصطلحات موضوعية: 0301 basic medicine, Pathology, Supine position, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, Muscle Proteins, Electromyography, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Camptocormia, 0302 clinical medicine, Age of Onset, Genetics (clinical), Sequence Deletion, medicine.diagnostic_test, biology, Calpain, Magnetic Resonance Imaging, Calpainopathy, Neurology, Calpain-3, Female, medicine.medical_specialty, Heterozygote, Paravertebral myopathy, Late onset, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Spinal Curvatures, Muscular Atrophy, Spinal, 03 medical and health sciences, medicine, Humans, Muscle, Skeletal, Pathological, Aged, Muscle biopsy, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, [SDV.BIO] Life Sciences [q-bio]/Biotechnology, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Pediatrics, Perinatology and Child Health, biology.protein, Creatine kinase, Bent‑spine, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery