Detalhe da pesquisa
1.
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Hum Mol Genet
; 32(21): 3029-3039, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070754
2.
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Acta Neuropathol
; 142(2): 375-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974137
3.
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Ann Neurol
; 85(6): 899-906, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30900782
4.
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Int J Mol Sci
; 21(4)2020 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32093037
5.
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Hum Mol Genet
; 24(13): 3718-31, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25877298
6.
Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.
Am J Pathol
; 184(8): 2322-32, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24907641
7.
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
Ann Neurol
; 73(4): 500-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401021
8.
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
Commun Biol
; 7(1): 438, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600180
9.
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
medRxiv
; 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293186
10.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nat Genet
; 56(3): 395-407, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429495
11.
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.
J Neurol
; 269(8): 4161-4173, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35237874
12.
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.
Neurol Genet
; 7(6): e632, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34722876
13.
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Neurol Genet
; 7(5): e619, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34386585
14.
Panorama of the distal myopathies.
Acta Myol
; 39(4): 245-265, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33458580
15.
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).
J Neuromuscul Dis
; 7(4): 477-481, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597815
16.
Mutations in the J domain of DNAJB6 cause dominant distal myopathy.
Neuromuscul Disord
; 30(1): 38-46, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31955980
17.
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.
Neurology
; 92(14): e1600-e1609, 2019 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842289
18.
The complexity of titin splicing pattern in human adult skeletal muscles.
Skelet Muscle
; 8(1): 11, 2018 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29598826
19.
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
J Clin Invest
; 128(3): 1164-1177, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29457785
20.
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
JAMA Neurol
; 75(5): 557-565, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29435569