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1دورية أكاديمية
المؤلفون: Robert Muni-Lofra, Lindsay B. Murphy, Kate Adcock, Maria E. Farrugia, Joseph Irwin, James B. Lilleker, John McConville, Andria Merrison, Matt Parton, Liz Ryburn, Mariacristina Scoto, Chiara Marini-Bettolo, Anna Mayhew
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: spinal muscular atrophy, standards of care, neuromuscular diseases, real-world data, United Kingdom, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub, Tarek A. Yousry
المصدر: Frontiers in Neurology, Vol 9 (2018)
مصطلحات موضوعية: distal myopathies, muscular dystrophies, MRI pattern, imaging genetics, next generation sequencing, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: Alexander M. Rossor, Matt Parton, David S. Lynch, Michael G. Hanna, Enrico Bugiardini, Qiang Gang, Andrea Cortese, Jasper M. Morrow, Lucy Feng, Ros Quinlivan, Janice L. Holton, Aisling Carr, Alaa Khan, Alan Pittman, Mary M. Reilly, Rahul Phadke, Chris Turner, Julian Blake, Henry Houlden, Emma Matthews
المصدر: Neuromuscular Disorders. 29:747-757
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Muscle Proteins, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Gene panel, Humans, Medicine, Medical diagnosis, Myopathy, Pathological, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, Genetic heterogeneity, business.industry, High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital
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4
المؤلفون: David Hilton-Jones, Damian Kozyra, Pedro Machado, Michael G. Hanna, Jane Freebody, L. Germain, Gina Sangha, Matt Parton, I Skorupinska, Bohao Yao, James Miller, Daniel Lunn
المصدر: Journal of neurology, neurosurgery, and psychiatry.
مصطلحات موضوعية: 030203 arthritis & rheumatology, medicine.medical_specialty, business.industry, medicine.disease, Clinical trial, Manual Muscle Testing, 03 medical and health sciences, Psychiatry and Mental health, 0302 clinical medicine, Rating scale, Internal medicine, Cohort, medicine, Quantitative Muscle Testing, Surgery, Observational study, Neurology (clinical), Age of onset, Inclusion body myositis, business, 030217 neurology & neurosurgery
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5
المؤلفون: M. Henderson, Wojtek Rakowicz, Silvia Marino, Curtis Offiah, Anna Sarkozy, Hanns Lochmüller, Simon Hammans, Marta Bertoli, Adnan Y. Manzur, Lucy Feng, Silvia Torelli, Francesco Muntoni, Tracey Willis, Chiara Marini-Bettolo, Fiona Norwood, Volker Straub, Rita Barresi, Maria Elena Farrugia, David Beeson, Maria Sframeli, Pierpaolo Ala, Elizabeth Wraige, Rahul Phadke, Aleksandar Radunovic, Caroline Sewry, Mark Walker, Kate Bushby, R. Mein, Godwin Mamutse, Sujit S. Vaidya, M. Yau, Matt Parton
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 89:762-768
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Glycosylation, Muscle biopsy, medicine.diagnostic_test, business.industry, Genetic heterogeneity, medicine.disease, Phenotype, 03 medical and health sciences, Psychiatry and Mental health, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Western blot, medicine, Surgery, Neurology (clinical), Muscular dystrophy, Guanosine diphosphate mannose, business, Gene, 030217 neurology & neurosurgery
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المؤلفون: Germán, Morís, Libby, Wood, Roberto, FernáNdez-Torrón, José Andrés, González Coraspe, Chris, Turner, David, Hilton-Jones, Fiona, Norwood, Tracey, Willis, Matt, Parton, Mark, Rogers, Simon, Hammans, Mark, Roberts, Elizabeth, Househam, Maggie, Williams, Hanns, Lochmüller, Teresinha, Evangelista
المصدر: Muscle & Nerve
مصطلحات موضوعية: Adult, Male, facioscapulohumeral dystrophy, Middle Aged, Severity of Illness Index, Muscular Dystrophy, Facioscapulohumeral, Young Adult, patient registry, quality of life, Clinical Research, patient reported outcome measures, INQoL, Humans, Female, pain, Chronic Pain, Aged, Pain Measurement
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7
المؤلفون: Michael G. Hanna, Caroline Sewry, Matt Parton, Janice L. Holton, Elizabeth Curtis, David Beeson, Qiang Gang, Ros Quinlivan, Stefen Brady, Safa Al-Sarraj, Saiju Jacob, Estelle Healy, Henry Houlden
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Muscle Fibers, Skeletal, N-Acetylglucosaminyltransferases, Histochemical staining, Tubular aggregates, Pathology and Forensic Medicine, Dysferlin, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Muscular Diseases, medicine, Humans, Muscle, Skeletal, Myopathy, Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing), biology, Chemistry, Endoplasmic reticulum, Skeletal muscle, General Medicine, Middle Aged, 030104 developmental biology, medicine.anatomical_structure, Neurology, Ultrastructure, biology.protein, Immunohistochemistry, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05ac7547c7977e2d71ad59fae7426882
https://ora.ox.ac.uk/objects/uuid:f6fba2c8-6255-4532-8e7a-e07c2a1386e1 -
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4caad57ca8c6d0ca5b81ac994de9e2ce
http://europepmc.org/articles/PMC4547052 -
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المؤلفون: Pedro Machado, Estelle Healy, Janice L. Holton, Michael G. Hanna, Stefen Brady, Matt Parton
المصدر: Clinical Practice. 11:623-637
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Computer science, education, Library science, General Medicine, Disease, medicine.disease, Clinical trial, Drug treatment, Current practice, parasitic diseases, medicine, Pharmacology (medical), In patient, medicine.symptom, IBM, Inclusion body myositis, Myopathy, Intensive care medicine
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المؤلفون: Anna, Sarkozy, Silvia, Torelli, Rachael, Mein, Matt, Henderson, Rahul, Phadke, Lucy, Feng, Caroline, Sewry, Pierpaolo, Ala, Michael, Yau, Marta, Bertoli, Tracey, Willis, Simon, Hammans, Adnan, Manzur, Maria, Sframeli, Fiona, Norwood, Wojtek, Rakowicz, Aleksandar, Radunovic, Sujit S, Vaidya, Matt, Parton, Mark, Walker, Silvia, Marino, Curtis, Offiah, Maria Elena, Farrugia, Godwin, Mamutse, Chiara, Marini-Bettolo, Elizabeth, Wraige, David, Beeson, Hanns, Lochmüller, Volker, Straub, Kate, Bushby, Rita, Barresi, Francesco, Muntoni
المصدر: Journal of neurology, neurosurgery, and psychiatry. 89(7)
مصطلحات موضوعية: Guanosine Diphosphate Mannose, Male, Adolescent, Middle Aged, Nucleotidyltransferases, Muscular Dystrophies, Cohort Studies, Child, Preschool, Mutation, Humans, Female, Child, Dystroglycans, Biomarkers, Aged