المؤلفون: Mark Busby, Rita Barresi, L. Phillips, Tiziana Mongini, Hacer Durmus, Jonathan Baets, Fiona Norwood, Judith N Hudson, James Miller, Peter De Jonghe, Shahriar Nafissi, Katherine Johnson, Ana Töpf, Monkol Lek, Stojan Peric, Daniel G. MacArthur, Marta Bertoli, Willem De Ridder, Shirin Jamal-Omidi, Vidosava Rakocevic Stojanovic, Volker Straub, Tine Deconinck, Anna Łusakowska

المصدر: Journal of neurology, neurosurgery and psychiatry

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Myopathy, Ubiquitin-Protein Ligases, Nonsense mutation, Population, Ethnic Groups, Muscle disorder, Muscular Dystrophies, Frameshift mutation, Tripartite Motif Proteins, 03 medical and health sciences, Limb-Girdle, 0302 clinical medicine, Muscular Diseases, Missense mutation, Medicine, Humans, Muscular dystrophy, education, Exome sequencing, Muscle disease, education.field_of_study, Neuromuscular, Female, Magnetic Resonance Imaging, Middle Aged, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Mutation, Transcription Factors, business.industry, Skeletal, medicine.disease, 3. Good health, Psychiatry and Mental health, Muscle, Surgery, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cfdfc1be3263ac26ee02f4f736fa0bTest
http://hdl.handle.net/2318/1786348Test

المؤلفون: Matt Parton, Wei Wei Liu, Maryam Sedghi, Andrew M. Schaefer, Maria Elena Farrugia, Katsiaryna Belaya, Susan Maxwell, Jacqueline Palace, Hanns Lochmüller, Simon J. McGowan, Keivan Basiri, Anna Sarkozy, Wyatt W. Yue, Kate Bushby, Matthew Pitt, David Beeson, Richard E. Petty, Timothy J. Walls, Pedro M. Rodríguez Cruz, Marta Bertoli, Robin Kennett, Francesco Muntoni

المصدر: Brain

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Weakness, glycosylation, Adolescent, DNA Mutational Analysis, Neuromuscular transmission, Neuromuscular Junction, GMPPB, Transfection, Neuromuscular junction, dystroglycan, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Medicine, Humans, Repetitive nerve stimulation, Muscular dystrophy, Myopathy, Dystroglycans, Muscle, Skeletal, 030304 developmental biology, Family Health, Myasthenic Syndromes, Congenital, 0303 health sciences, business.industry, neurotransmission defect, DPAGT1, Original Articles, Congenital myasthenic syndrome, medicine.disease, Magnetic Resonance Imaging, Nucleotidyltransferases, 3. Good health, medicine.anatomical_structure, HEK293 Cells, congenital myasthenic syndrome, Immunology, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4caad57ca8c6d0ca5b81ac994de9e2ceTest
http://europepmc.org/articles/PMC4547052Test

المؤلفون: C. Scotton, Mark Roberts, Judith N Hudson, E. Harris, Hanns Lochmüller, Bas Vroling, Teresinha Evangelista, Chiara Marini-Bettolo, Umar Burki, Tuomo Polvikoski, Rita Barresi, Marcella Neri, Marta Bertoli, Ana Töpf, Kate Bushby, Volker Straub, Daniel McArthur, Alessandra Ferlini

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Exome sequencing, DNA Mutational Analysis, Cell Culture Techniques, medicine.disease_cause, Pediatrics, Dyslexia, 0302 clinical medicine, Hypocalcaemia, Genetics (clinical), Blood Platelet Disorders, Mutation, Ichthyosis, Middle Aged, Miosis, Perinatology and Child Health, Store-operated calcium entry, Magnetic Resonance Imaging, Neoplasm Proteins, Neurology, STIM1, Stormorken syndrome, Tubular aggregate myopathy, York platelet syndrome, Pediatrics, Perinatology and Child Health, Neurology (clinical), Muscle Fatigue, Female, medicine.symptom, Myopathies, Structural, Congenital, inorganic chemicals, Adult, Asplenia, Migraine Disorders, Erythrocytes, Abnormal, Socio-culturale, 03 medical and health sciences, medicine, Humans, Stromal Interaction Molecule 1, Myopathy, Muscle, Skeletal, Genetic Association Studies, Family Health, business.industry, Fibroblasts, medicine.disease, NAD, Bleeding diathesis, Microscopy, Electron, 030104 developmental biology, Immunology, Calcium, business, 030217 neurology & neurosurgery, Spleen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f602728c67ab79a24d787c8492fde8Test
http://hdl.handle.net/11392/2384546Test