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 > MYOBASE > BIOLOGIE > biologie par discipline > génétique > gène > gène troponine > gène TNNT1
gène TNNT1Synonyme(s)gène troponine T du muscle lent ;slow skeletal muscle troponin T gene ;OMIM : 191041 TNNT1 gene |
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Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
Pellerin D, Aykanat A, Ellezam B, et al.
Annals of neurology, 2020
'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
D'Amico A, Fattori F, Fiorillo C, et al.
Neuromuscular disorders : NMD, 2019
Sarcomere Dysfunction in Nemaline Myopathy
de Winter JM, Ottenheijm CAC
Journal of Neuromuscular Diseases, 2017, 4, 2, p 99
Myology 2016 : 5th International Congress of Myology ; Posters n° 76 to 93 - Congenital myopathies
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 59-67
Identification of a Novel Nemaline Myopathy-causing Mutation in the Troponin T1 (TNNT1) Gene: A case outside of the Old Order Amish
Marra JD, Engelstad KE, Ankala A, et al.
Muscle & Nerve, 2015, 51, 5, p 767
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree
van der Pol WL, Leijenaar JF, Spliet WG, et al.
Molecular genetics & genomic medicine, 2014, 2, 2, p 134
Clinical utility gene card for: Nemaline myopathy
Nowak KJ, Davis MR, Wallgren-Pettersson C, et al.
European journal of human genetics, 2012, 20, 6, p. e1-e4
Myopathies à bâtonnets : variabilité clinique et grande hétérogénéité génétique
Romero NB
Les Cahiers de Myologie, 2011, 5, p. 27-35
Nemaline myopathies
Wallgren-Pettersson C, Sewry CA, Nowak KJ, et al.
Seminars in pediatric neurology, 2011, 18, 4, p. 230-238
Thin filament proteins mutations associated with skeletal myopathies : defective regulation of muscle contraction
Ochala J
Journal of molecular medicine, 2008, 86, 11, p. 1197-1204
Adult-onset nemaline myopathy and monoclonal gammopathy
Keller CE, Hays AP, Rowland LP, et al.
Archives of neurology, 2006, 63, p. 132-134
Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy
Kuyumcu-Martinez NM, Cooper TA
Progress in molecular and subcellular biology, 2006, 44, p. 133-159
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy
Wang X, Huang QQ, Breckenridge MT, et al.
Journal of biological chemistry (The), 2005, 280, 14, p. 13241-13249
Mutation screening in dilated cardiomyopathy : prominent role of the beta myosin heavy chain gene
Villard E, Duboscq-Bidot L, Charron P, et al.
European heart journal, 2005, 26, p. 794-803
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy ; A comprehensive outpatient perspective
Ackermann MJ, Vandriest SL, Ommen SR, et al.
Journal of the American College of Cardiology, 2002, 39, 12, p. 2042-2048
