Detalhe da pesquisa
1.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
2.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
3.
Mutation update: the spectra of nebulin variants and associated myopathies.
Hum Mutat
; 35(12): 1418-26, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205138
4.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24692096
5.
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Brain
; 136(Pt 2): 494-507, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23378224
6.
Abnormal actin binding of aberrant ß-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.
Biochem J
; 442(1): 231-9, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22084935
7.
A Web Portal for Communicating Polygenic Risk Score Results for Health Care Use-The P5 Study.
Front Genet
; 12: 763159, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34777479
8.
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.
Cold Spring Harb Mol Case Stud
; 5(4)2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127036
9.
Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.
Neuromuscul Disord
; 17(6): 433-42, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17434307
10.
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.
Skelet Muscle
; 4: 15, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25110572