Detalhe da pesquisa
1.
A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region.
Muscle Nerve
; 59(1): 116-121, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30265400
2.
Mutation-specific effects on thin filament length in thin filament myopathy.
Ann Neurol
; 79(6): 959-69, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27074222
3.
Differential isoform expression and selective muscle involvement in muscular dystrophies.
Am J Pathol
; 185(10): 2833-42, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26269091
4.
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
5.
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
6.
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Neuromuscul Disord
; 35: 29-32, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219297
7.
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Sci Rep
; 14(1): 4306, 2024 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383731
8.
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Neuromuscul Disord
; 34: 32-40, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142473
9.
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
J Neuromuscul Dis
; 10(5): 977-984, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37393515
10.
Expression of multiple nebulin isoforms in human skeletal muscle and brain.
Muscle Nerve
; 46(5): 730-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22941678
11.
Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region.
Genes (Basel)
; 13(5)2022 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627290
12.
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.
PLoS One
; 17(5): e0267793, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35576196
13.
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation.
Neuromuscul Disord
; 31(3): 239-245, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33376055
14.
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.
Neuromuscul Disord
; 31(6): 539-545, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33933294
15.
A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
J Hum Genet
; 60(3): 161-2, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25589043
16.
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
Acta Neuropathol Commun
; 8(1): 18, 2020 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32066503
17.
Update on the Genetics of Congenital Myopathies.
Semin Pediatr Neurol
; 29: 12-22, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31060721
18.
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.
Neuromuscul Disord
; 29(2): 97-107, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679003
19.
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
Eur J Hum Genet
; 16(9): 1055-61, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18382475
20.
Distal myopathy caused by homozygous missense mutations in the nebulin gene.
Brain
; 130(Pt 6): 1465-76, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17525139