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

URL الوصول: https://doaj.org/article/f95f1a18963c49eebf12fb0df9632f8c

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb38f6bce92382152a6c8b57fbb7debb
https://doi.org/10.1111/jns.12509

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

المؤلفون: Louisa Kent, Stefen Brady

المصدر: Neuromuscular Disorders. 33:474-475

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0ac5e05ac37237622e2a2848c5c4e974
https://doi.org/10.1016/j.nmd.2023.04.006

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90095865761f095ec2cb154b07214996
https://doi.org/10.1002/acn3.51477

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

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2003634a4370c1e2ecd6abc92b09afa
https://pubmed.ncbi.nlm.nih.gov/36221900

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2cf4fb87acd621144fcbff5c30ba4380
https://pubmed.ncbi.nlm.nih.gov/35962630

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

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000700538&lng=en&tlng=en; https://doaj.org/toc/1678-4227

URL الوصول: https://doaj.org/article/081021cb70b947bca35c95ce216eca8d

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::affcb27ff32d62e486c2a10529b6606c
https://pubmed.ncbi.nlm.nih.gov/35487868