نتائج البحث - "Nancy Mokbel"

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 136, 494-507. Oxford University Press
Mokbel, N, Ilkovski, B, Kreissl, M, Memo, M, Jeffries, C M, Marttila, M, Lehtokari, V L, Lemola, E, Gronholm, M, Yang, N, Menard, D, Marcorelles, P, Echaniz-Laguna, A, Reimann, J, Vainzof, M, Monnier, N, Ravenscroft, G, McNamara, E, Nowak, K J, Laing, N G, Wallgren-Pettersson, C, Trewhella, J, Marston, S, Ottenheijm, C A C, North, K N & Clarke, N F 2013, ' K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity ', Brain, vol. 136, pp. 494-507 . https://doi.org/10.1093/brain/aws348

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Swine, Molecular Sequence Data, Muscle Fibers, Skeletal, Tropomyosin, macromolecular substances, Biology, Gene mutation, Myopathies, Nemaline, Sarcomere, TPM2, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Internal medicine, Secondary Prevention, medicine, Animals, Humans, PROTEÍNAS MUSCULARES, Amino Acid Sequence, Cells, Cultured, Genetic Association Studies, Actin, Aged, 030304 developmental biology, 0303 health sciences, Genetic Carrier Screening, Skeletal muscle, Middle Aged, medicine.disease, Congenital myopathy, Pedigree, Rats, medicine.anatomical_structure, Endocrinology, Biochemistry, Mutation, Calcium, Female, Neurology (clinical), Chickens, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7704e195f0af12a6a2d45c0076eb53
https://doi.org/10.1093/brain/aws348

View record in OpenAIRE

7

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

المؤلفون: Lars Klinge, Sandra T. Cooper, Coen A.C. Ottenheijm, Josine M. de Winter, Nigel F. Clarke, Elyshia McNamara, Steve Marston, Nancy Mokbel, Kristen J. Nowak, Gianina Ravenscroft, Biljana Ilkovski, Alan H. Beggs, Michaela Yuen, John Rendu, Kathryn N. North

المساهمون: Physiology, ICaR - Heartfailure and pulmonary arterial hypertension

المصدر: Human Molecular Genetics, 24(22), 6278-6292. Oxford University Press
Yuen, M, Cooper, S T, Marston, S B, Nowak, K J, McNamara, E, Mokbel, N, Ilkovski, B, Ravenscroft, G, Rendu, J, de Winter, J M, Klinge, L, Beggs, A H, North, K N, Ottenheijm, C A C & Clarke, N F 2015, ' Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres ', Human Molecular Genetics, vol. 24, no. 22, pp. 6278-6292 . https://doi.org/10.1093/hmg/ddv334

مصطلحات موضوعية: Adult, Male, Adolescent, Generalized muscle weakness, Tropomyosin, Myosins, Biology, Filamentous actin, Muscular Diseases, Myosin, Genetics, medicine, Humans, Protein Isoforms, Child, Myopathy, Molecular Biology, Genetics (clinical), Actin, Muscle Weakness, Infant, Muscle weakness, Articles, General Medicine, Anatomy, Middle Aged, Actins, Muscular Atrophy, Muscle Fibers, Slow-Twitch, Child, Preschool, Mutation, Biophysics, Calcium, Female, medicine.symptom, Muscle Contraction, Muscle contraction