Detalhe da pesquisa
1.
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Ann Neurol
; 78(6): 982-994, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26418456
2.
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nat Genet
; 23(2): 208-12, 1999 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-10508519
3.
A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours.
Neuromuscul Disord
; 15(11): 779-85, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16198105
4.
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.
Neuromuscul Disord
; 10(2): 100-7, 2000 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-10714584
5.
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
Neuromuscul Disord
; 11(1): 35-40, 2001 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11166164
6.
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Neurology
; 78(14): 1100-3, 2012 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22442437
7.
Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
Neuropediatrics
; 32(5): 267-70, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11748499
8.
Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.
Eur J Biochem
; 268(12): 3473-82, 2001 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11422377
9.
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
J Neurol Neurosurg Psychiatry
; 67(2): 174-9, 1999 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-10406984