المؤلفون: Volker Straub, V. Rakocevic Stojanovic, Hossein Najmabadi, Stojan Peric, Yalda Nilipour, Shahriar Nafissi, Aleksa Palibrk, Farzad Fatehi, Ana Töpf, Magdalena Mroczek, Ali Asghar Okhovat

المصدر: Eur J Neurol

مصطلحات موضوعية: myalgia, Adult, Male, medicine.medical_specialty, Mitochondrial Diseases, Metabolic myopathy, Exercise intolerance, Lipid Metabolism, Inborn Errors, Article, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, 03 medical and health sciences, Liver disease, Young Adult, 0302 clinical medicine, Muscular Diseases, Internal medicine, medicine, Missense mutation, Congenital Bone Marrow Failure Syndromes, Humans, 030212 general & internal medicine, business.industry, Acyl-CoA Dehydrogenase, Long-Chain, medicine.disease, 3. Good health, Neurology, Female, Neurology (clinical), medicine.symptom, Age of onset, business, Rhabdomyolysis, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::498e0dc8f6bb0fd4053c39c5bdb90206Test
https://pubmed.ncbi.nlm.nih.gov/32558070Test

المؤلفون: Farnaz Sinaei, Ferdos Nazari, Mahmoud Reza Ashrafi, Farzad Fatehi, Yalda Nilipour, Shahriar Nafissi, Berthold Streubel, Omid Aryani

المصدر: Muscle & Nerve. 55:835-840

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genotype, Physiology, Population, Late onset, Disease, Iran, 030105 genetics & heredity, Consanguinity, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, Glycogen storage disease type II, medicine, Humans, Genetic Predisposition to Disease, Child, Muscle, Skeletal, education, Family Health, Genetics, education.field_of_study, Electromyography, Glycogen Storage Disease Type II, business.industry, alpha-Glucosidases, Middle Aged, Evoked Potentials, Motor, Respiration Disorders, medicine.disease, Dried blood spot, Child, Preschool, Mutation, Acid alpha-glucosidase, Female, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6166b3fc81fadb78cd280796cf4d0eaaTest
https://doi.org/10.1002/mus.25413Test

المؤلفون: Tanya Stojkovic, José C. Milisenda, Ana Maria Cobo, Monika Raimondi, Fernando Silveira, Sarah Leonard-Louis, Marco Savarese, Ricardo Reisin, Lorenzo Maggi, Farzad Fatehi, Wolfram Kress, Sabrina Sacconi, Johanna Palmio, Sini Penttilä, Sergei Nikitin, Tahseen Mozaffar, Shahram Attarian, Bjarne Udd, Peter Hackman, Andrés Berardo, Sergei Kurbatov, Anna Lena Semmler, Tim Lai, Kristl G. Claeys, Andoni Urtizberea

المساهمون: Tampere University Hospital, University of Tampere [Finland], 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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, RWTH Aachen University, University Hospital of Würzburg, University of California [Irvine] (UCI), University of California, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hôpital de la Timone [CHU - APHM] (TIMONE), Fondazione IRCCS Istituto Neurologico 'Carlo Besta', CIBER de Enfermedades Raras (CIBERER), Tehran University of Medical Sciences (TUMS), Hospital de São João [Porto], University Hospitals Leuven [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), University of California [Irvine] (UC Irvine), University of California (UC), 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 de Recherche en Myologie, Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Tampere University, Medicum, Department of Medical and Clinical Genetics, University of Helsinki

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Journal of neurology, vol 266, iss 3
Journal of Neurology
Journal of Neurology, Springer Verlag, 2019, 266 (3), pp.680-690. ⟨10.1007/s00415-019-09187-2⟩
Journal of neurology 266(3), 680-690 (2019). doi:10.1007/s00415-019-09187-2
Journal of Neurology, 2019, 266 (3), pp.680-690. ⟨10.1007/s00415-019-09187-2⟩

مصطلحات موضوعية: Male, INVOLVEMENT, Neurology, Titin, Respiratory failure, Bioinformatics, 3124 Neurology and psychiatry, Exon, 0302 clinical medicine, Connectin, 030212 general & internal medicine, Family history, Age of Onset, Sanger sequencing, Original Communication, biology, Hereditary myopathy, Skeletal, Middle Aged, 3. Good health, Pedigree, Genetic Diseases, symbols, Muscle, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, medicine.symptom, Respiratory Insufficiency, Respiratory insufficiency, Life Sciences & Biomedicine, Neurotieteet - Neurosciences, Adult, Distròfia muscular, medicine.medical_specialty, Proximal muscle weakness, Clinical Sciences, Clinical Neurology, Titinopathy, mutations, DISEASE ALLELE, Titinopathy, 03 medical and health sciences, symbols.namesake, Young Adult, Muscular Diseases, medicine, Humans, Myopathy, Muscle, Skeletal, Malalties musculars, Neurology & Neurosurgery, Science & Technology, EARLY RESPIRATORY-FAILURE, business.industry, 3112 Neurosciences, Genetic Diseases, Inborn, Neurosciences, mutations, Muscular dystrophy, Inborn, Insuficiència respiratòria, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, biology.protein, BODIES, Neurology (clinical), Neurosciences & Neurology, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Print-Electronic; fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e80decf7ebb7d6acb1ebcb92e3e905ffTest
http://hdl.handle.net/2445/171996Test