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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 -
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المؤلفون: Katsiaryna Belaya, Samuel I. Pascual-Pascual, Timothy J. Walls, Sarah Finlayson, Judith Cossins, Fiona Norwood, David Beeson, Janice L. Holton, Jacqueline Palace, G Burke
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Neuromuscular disease, Glycosylation, Biopsy, DNA Mutational Analysis, Neuromuscular Junction, Neuropathology, N-Acetylglucosaminyltransferases, Neuromuscular junction, Diagnosis, Differential, health services administration, medicine, Potassium Channel Blockers, Humans, Albuterol, Exome, Repetitive nerve stimulation, Genetic Testing, 4-Aminopyridine, Age of Onset, Myopathy, Muscle, Skeletal, Adrenergic beta-2 Receptor Agonists, health care economics and organizations, Motor Neurons, Myasthenic Syndromes, Congenital, Neurologic Examination, Muscle biopsy, medicine.diagnostic_test, business.industry, DPAGT1, Congenital myasthenic syndrome, Middle Aged, medicine.disease, Psychiatry and Mental health, medicine.anatomical_structure, Phenotype, Surgery, Female, Neurology (clinical), Cholinesterase Inhibitors, medicine.symptom, Amifampridine, business, Pyridostigmine Bromide
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5c08aca72a52869d0f6ff6aede3768Test
https://doi.org/10.1136/jnnp-2012-304716Test -
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المؤلفون: Maryam Sedghi, Robin Kennett, David Beeson, Richard E. Petty, Francesco Muntoni, Janice L. Holton, Hanns Lochmüller, Susan Maxwell, Anna Sarkozy, Timothy J. Walls, Jacqueline Palace, Keivan Basiri, Matthew Pitt, Pedro M. Rodríguez Cruz, Maria Elena Farrugia, Matt Parton, Wei Wei Liu, Katsiaryna Belaya
المصدر: Journal of neurology, neurosurgery, and psychiatry. 87
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Weakness, Neuromuscular disease, Proximal muscle weakness, Glycosylation, Adolescent, Neuromuscular transmission, Neuromuscular Junction, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Ptosis, medicine, Humans, Cognitive Dysfunction, Dystroglycans, Creatine Kinase, Aged, Myasthenic Syndromes, Congenital, Muscle biopsy, medicine.diagnostic_test, business.industry, Facial weakness, Congenital myasthenic syndrome, Middle Aged, medicine.disease, Nucleotidyltransferases, Psychiatry and Mental health, 030104 developmental biology, Mutation, Surgery, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc88a6cd9d9953cf8fdcc72c61c694eaTest
http://ora.ox.ac.uk/objects/uuid:90bf07db-e053-4e91-bfcd-cf6c56e5d24dTest -
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المؤلفون: Timothy J. Walls, David Beeson, Katsiaryna Belaya, Jacqueline Palace, Clarke R. Slater, Simon J. McGowan, Sarah Finlayson, Wei Wei Liu, Judith Cossins, Samuel I. Pascual, Stephen R.F. Twigg, Susan Maxwell, Siarhei Maslau
المصدر: The American Journal of Human Genetics. 91(1):193-201
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Glycosylation, Neuromuscular transmission, Neuromuscular Junction, Transferases (Other Substituted Phosphate Groups), Motor Endplate, Neuromuscular junction, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Report, medicine, Genetics, CHRNE, Humans, Receptors, Cholinergic, Genetics(clinical), 4-Aminopyridine, Genetics (clinical), 030304 developmental biology, Acetylcholine receptor, Myasthenic Syndromes, Congenital, 0303 health sciences, biology, Tunicamycin, Muscle weakness, DPAGT1, Congenital myasthenic syndrome, Middle Aged, medicine.disease, 3. Good health, RAPSN, medicine.anatomical_structure, Endocrinology, Lower Extremity, Immunology, Mutation, biology.protein, Female, Cholinesterase Inhibitors, medicine.symptom, Amifampridine, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03e9838d981143b031c136be5a08c070Test
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المؤلفون: Margaret Jackson, Douglas E. Crompton, A Curtis, David W. Bates, John Burn, Timothy J. Walls, Patrick F. Chinnery
المصدر: Movement Disorders. 20:95-99
مصطلحات موضوعية: Dystonia, Pediatrics, medicine.medical_specialty, Movement disorders, Neuroferritinopathy, Chorea, Neurological disorder, medicine.disease, Central nervous system disease, Ferritin light chain, Neurology, Neuroimaging, medicine, Neurology (clinical), medicine.symptom, Psychology, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1c105bf5fc3f36bb78ccb5f570c7532bTest
https://doi.org/10.1002/mds.20284Test -
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المؤلفون: Grant Gibson, A Dearlove, Timothy J. Walls, JJ Fulthorpe, Prw Fawcett, D Smyth, Kmd Bushby, Sheila Jamieson, Margaret A. Johnson, Patrick F. Chinnery, Sharon Keers, P. Hudgson, M Cullen
المصدر: Neuromuscular Disorders. 11:615-674
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, History, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, Myopathy, Genetics (clinical), Early respiratory failure, Law and economics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b461ea41587a2632775ae70358d31b27Test
https://doi.org/10.1016/s0960-8966Test(01)00246-2 -
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المؤلفون: Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Susan Maxwell, Jacqueline Palace, Maria Elena Farrugia, Judy Cossins, David Beeson, Richard E. Petty, Wei Wei Liu, Timothy J. Walls
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 87:e1.84-e1
مصطلحات موضوعية: Weakness, Pathology, medicine.medical_specialty, Neuromuscular disease, Muscle biopsy, medicine.diagnostic_test, business.industry, Facial weakness, Neuromuscular transmission, medicine.disease, Psychiatry and Mental health, Ptosis, Cataracts, Medicine, Surgery, Neurology (clinical), medicine.symptom, business, Myopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::97f9b90b822662dc1a6b44b009c1f5bdTest
https://doi.org/10.1136/jnnp-2016-315106.174Test -
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المؤلفون: Peter Hudgson, Peter R. W. Fawcett, John J. Fulthorpe, Kate Bushby, Patrick F. Chinnery, G. John Gibson, Margaret A. Johnson, Sarra Jamieson, Timothy J. Walls, Michael J. Cullen
المصدر: Annals of Neurology. 49:443-452
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Weakness, business.industry, Respiratory disease, Autopsy, Anatomy, medicine.disease, Neurology, Distal Myopathies, medicine, Desmin, Neurology (clinical), medicine.symptom, Age of onset, Myopathy, business, Pathological
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::635e0e0fe1c8f081a1b8e5bb4d43638bTest
https://doi.org/10.1002/ana.93Test -
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المؤلفون: Clarke R. Slater, Timothy J. Walls, D Gardner-Medwin, David Beeson, P.R. Lyons, Sarah J. Bailey, Peter R.W. Fawcett, C. Young
المصدر: Brain : a journal of neurology. 129(Pt 8)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Neuromuscular transmission, Neural Conduction, Neuromuscular Junction, Synaptic Transmission, Neuromuscular junction, Internal medicine, Myasthenia Gravis, medicine, Cholinesterases, Humans, Receptors, Cholinergic, Child, Muscle, Skeletal, Acetylcholine receptor, Motor Neurons, biology, business.industry, Electromyography, Extremities, Anatomy, Congenital myasthenic syndrome, medicine.disease, Myasthenia gravis, Electric Stimulation, Compound muscle action potential, Myasthenias, Microscopy, Electron, Endocrinology, medicine.anatomical_structure, biology.protein, Female, Neurology (clinical), business, Dok-7
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a2ca7cc5c220360ba41764a14ee8042Test
http://ora.ox.ac.uk/objects/uuid:8d95d038-0f9f-43cb-a04e-9bfef6f76c1cTest -
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المؤلفون: Timothy J. Walls, Pamela J. Shaw, Paul G. Ince, Douglass M. Turnbull, Kasia Tonska, Geoffrey A. Taylor, Gillian M. Borthwick, Robert W. Taylor
المصدر: Annals of neurology. 59(3)
مصطلحات موضوعية: Male, Mitochondrial DNA, DNA Mutational Analysis, Disease, Biology, Mitochondrion, medicine.disease_cause, DNA, Mitochondrial, Central nervous system disease, Electron Transport Complex IV, Degenerative disease, medicine, Humans, RNA, Messenger, Motor Neuron Disease, RNA, Transfer, Ile, Aged, Motor Neurons, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Motor neuron, medicine.disease, Immunohistochemistry, Heteroplasmy, Succinate Dehydrogenase, medicine.anatomical_structure, Neurology, Neurology (clinical), Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df79afb2dcc69ee8c2e80b83900fa51aTest
https://pubmed.ncbi.nlm.nih.gov/16358336Test