Detalhe da pesquisa
1.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
2.
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Hum Mutat
; 41(2): 403-411, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660661
3.
The Role of PIEZO2 in Human Mechanosensation.
N Engl J Med
; 375(14): 1355-1364, 2016 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27653382
4.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
5.
Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 55(3): 333-337, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27421252
6.
Bone health in facioscapulohumeral muscular dystrophy: A cross-sectional study.
Muscle Nerve
; 56(6): 1108-1113, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28214289
7.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768512
8.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
9.
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
10.
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Hum Mutat
; 32(2): 152-67, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20848652
11.
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.
Neurol Genet
; 5(2): e315, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31041397
12.
Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management.
ERJ Open Res
; 3(2)2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28660205