المؤلفون: Didem Ardicli, Nigel G. Laing, Mark R. Davis, Beril Talim, Hayley Goullee, K.J. Nowak, Goknur Haliloglu, Haluk Topaloglu

المصدر: Neuromuscular Disorders. 27:S196

مصطلحات موضوعية: Neuromuscular disease, business.industry, Neuromuscular clinic, medicine.disease, Bioinformatics, DNA sequencing, Neurology, Gene panel, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Presentation (obstetrics), business, Genetics (clinical), Early onset

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::573a713463188c0462daa5ea01eb6e96
https://doi.org/10.1016/j.nmd.2017.06.371

المؤلفون: Nigel G. Laing, Lisa M. Griffiths, J. Laitila, Carina Wallgren-Pettersson, Elyshia McNamara, G. Ravenscroft, Caroline Sewry, Michael W. Lawlor, Julien Ochala, K.J. Nowak, Hayley Goullee, Katarina Pelin

المصدر: Neuromuscular Disorders. 27:S183

مصطلحات موضوعية: 0301 basic medicine, Biology, medicine.disease, Compound heterozygosity, Molecular biology, 03 medical and health sciences, Nebulin, 030104 developmental biology, 0302 clinical medicine, Nemaline myopathy, Neurology, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fa0baa6210134b03fc6854f23cf4cb2f
https://doi.org/10.1016/j.nmd.2017.06.325

المؤلفون: Biljana Ilkovski, Nancy Mokbel, Velia M. Fowler, Kendall Walker, Kathryri N North, Raymond A. Lewis, Ana Domazetovska, K.J. Nowak, Nigel G. Laing, Sandra T. Cooper

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Blotting, Western, macromolecular substances, Tropomyosin, Myopathies, Nemaline, Filamentous actin, Article, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Nemaline myopathy, Fetus, medicine, Humans, Protein Isoforms, Nemaline bodies, Muscle, Skeletal, Actin, biology, Infant, Newborn, Muscle weakness, Skeletal muscle, Infant, General Medicine, Middle Aged, musculoskeletal system, medicine.disease, Molecular biology, Immunohistochemistry, medicine.anatomical_structure, Muscle Fibers, Slow-Twitch, Neurology, Child, Preschool, Mutation, biology.protein, Female, Neurology (clinical), medicine.symptom, Isoelectric Focusing, Tropomodulin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56568e757bf1f4ff499e06acc67af925
https://europepmc.org/articles/PMC2746243/

المؤلفون: K.J. Nowak, Mark R. Davis, Elyshia McNamara, Richard J.N. Allcock, Nina Kresoje, Nigel G. Laing, Phillipa J. Lamont, Kyle S. Yau

المصدر: Neuromuscular Disorders. 22:869-870

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Weakness, Pathology, medicine.medical_specialty, Genetic heterogeneity, Disease, Biology, medicine.disease, Chronic cough, Dysarthria, Peripheral neuropathy, Neurology, Pediatrics, Perinatology and Child Health, Immunology, medicine, Spinocerebellar ataxia, biology.protein, Creatine kinase, Neurology (clinical), medicine.symptom, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::98260c8fc15c30da4ff5dfe20a878327
https://doi.org/10.1016/j.nmd.2012.06.222

المؤلفون: Rachael M. Duff, K.J. Nowak, G. Ravenscroft, P.B. Daniel, Elyshia McNamara, Nigel G. Laing, S.P. Robertson

المصدر: Neuromuscular Disorders. 24:833

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Mutation, Skeletal muscle, Biology, Filamin, medicine.disease_cause, Endocrinology, medicine.anatomical_structure, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Desmin, Neurology (clinical), FLNC, medicine.symptom, Myopathy, Genetics (clinical), Actin, Immunostaining

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::99c916698719893199de9ac75698aa81
https://doi.org/10.1016/j.nmd.2014.06.140