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1دورية أكاديمية
المؤلفون: Qiang Gang, Conceição Bettencourt, Stefen Brady, Janice L. Holton, Estelle G. Healy, John McConville, Patrick J. Morrison, Michela Ripolone, Raffaella Violano, Monica Sciacco, Maurizio Moggio, Marina Mora, Renato Mantegazza, Simona Zanotti, Zhaoxia Wang, Yun Yuan, Wei‐wei Liu, David Beeson, Michael Hanna, Henry Houlden
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 1, Pp 4-15 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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2
المؤلفون: Molly G. Abbott, Zahra Allawi, Monika Hofer, Olaf Ansorge, Stefen Brady, Ricardo Fadic, Gustavo Torres, Ravi Knight, Margarita Calvo, David L. H. Bennett, Andreas C. Themistocleous
المصدر: Journal of the Peripheral Nervous System. 27:325-329
مصطلحات موضوعية: General Neuroscience, Neurology (clinical)
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3
المؤلفون: Michael Matheou, Garry D Tan, Fredrik Karpe, Stefen Brady, Louisa Kent, Kassim Javaid, Jonathan Marshall, Deborah Shears, Helen E Turner
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fa932a562821df7a97a20e0bb26863c2
https://doi.org/10.1530/endoabs.91.p28 -
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المؤلفون: Louisa Kent, Stefen Brady
المصدر: Neuromuscular Disorders. 33:474-475
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
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المؤلفون: Qiang Gang, Conceição Bettencourt, Stefen Brady, Janice L. Holton, Estelle G. Healy, John McConville, Patrick J. Morrison, Michela Ripolone, Raffaella Violano, Monica Sciacco, Maurizio Moggio, Marina Mora, Renato Mantegazza, Simona Zanotti, Zhaoxia Wang, Yun Yuan, Wei‐wei Liu, David Beeson, Michael Hanna, Henry Houlden
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 9, Iss 1, Pp 4-15 (2022)مصطلحات موضوعية: Adult, Male, animal structures, Adolescent, Biopsy, General Neuroscience, Neurosciences. Biological psychiatry. Neuropsychiatry, Middle Aged, Pedigree, Young Adult, HEK293 Cells, Muscular Diseases, Exome Sequencing, Humans, Female, Neurology. Diseases of the nervous system, Neurology (clinical), RC346-429, Muscle, Skeletal, Research Articles, RC321-571, Research Article
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6Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
المؤلفون: Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil Ibrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O’Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft
المساهمون: Medicum, Department of Medical and Clinical Genetics, University of Helsinki, STEMM - Stem Cells and Metabolism Research Program, HUS Neurocenter, Neurologian yksikkö, Clinicum, Centre of Excellence in Stem Cell Metabolism, Research Programs Unit, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE
مصطلحات موضوعية: myalgia, Adolescent, MUTATIONS, 3112 Neurosciences, Loss of Heterozygosity, LINE, Protein Serine-Threonine Kinases, MUSCLE, exercise intolerance, SARCOPLASMIC-RETICULUM, OBSCURIN, GENE, Rhabdomyolysis, MUSCULAR-DYSTROPHY, 3124 Neurology and psychiatry, Sarcoplasmic Reticulum, obscurin, ISOFORM, hyperCKaemia, rhabdomyolysis, Humans, Calcium, Neurology (clinical), Rho Guanine Nucleotide Exchange Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4bd1d51311f5e2b61ad26c923c76fc7
http://hdl.handle.net/10138/353498 -
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المؤلفون: Ignacio Javier Acosta, Werner Stenzel, Monika Hofer, Stefen Brady
المصدر: MusclenerveREFERENCES. 67(1)
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), Neurology (clinical)
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المؤلفون: Molly G, Abbott, Zahra, Allawi, Monika, Hofer, Olaf, Ansorge, Stefen, Brady, Ricardo, Fadic, Gustavo, Torres, Ravi, Knight, Margarita, Calvo, David L H, Bennett, Andreas C, Themistocleous
المصدر: Journal of the peripheral nervous system : JPNSREFERENCES. 27(4)
مصطلحات موضوعية: Neurologic Examination, Small Fiber Neuropathy, Vaccination, Neural Conduction, Humans, Neuralgia, Skin
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9دورية أكاديمية
المؤلفون: Renata Siciliani Scalco, Sherryl Chatfield, Richard Godfrey, Jatin Pattni, Charlotte Ellerton, Andrea Beggs, Stefen Brady, Andrew Wakelin, Janice L Holton, Ros Quinlivan
المصدر: Arquivos de Neuro-Psiquiatria, Vol 72, Iss 7, Pp 538-541 (2014)
مصطلحات موضوعية: doença de McArdle, doença de depósito do glicogênio tipo V, fenomeno de second wind, teste do exercício, teste 12 minutos de marcha, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Ignacio Javier Acosta, Monika Hofer, Stefen Brady
المصدر: Neuromuscular disorders : NMD. 32(5)
مصطلحات موضوعية: Myositis, Coenzymes, Autoimmune Diseases, Mitochondria, Necrosis, Neurology, Muscular Diseases, Case-Control Studies, Pediatrics, Perinatology and Child Health, Humans, Hydroxymethylglutaryl CoA Reductases, Neurology (clinical), Hydroxymethylglutaryl-CoA Reductase Inhibitors, Muscle, Skeletal, Genetics (clinical), Autoantibodies