Detalhe da pesquisa
1.
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
Neuropathol Appl Neurobiol
; 47(2): 283-296, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32896923
2.
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.
Eur J Neurol
; 25(6): 841-847, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29498452
3.
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Acta Neuropathol Commun
; 7(1): 30, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30823891
4.
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Neurogastroenterol Motil
; 30(9): e13371, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29781137
5.
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Neurology
; 78(14): 1100-3, 2012 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-22442437