Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-29498452
2.
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Ann Neurol
; 78(6): 982-994, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26418456
3.
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.
Clin Genet
; 88(6): 573-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25529940
4.
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
Nat Genet
; 9(1): 75-9, 1995 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-7704029
5.
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
6.
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Acta Neuropathol Commun
; 7(1): 30, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30823891
7.
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.
Nat Genet
; 10(2): 249, 1995 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-7663526
8.
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Neurogastroenterol Motil
; 30(9): e13371, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29781137
9.
Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene.
Gene
; 222(1): 41-51, 1998 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-9813236
10.
Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase.
Neurology
; 48(1): 55-7, 1997 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-9008494
11.
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.
Neurology
; 55(11): 1689-96, 2000 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-11113224
12.
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.
Neurology
; 59(4): 613-7, 2002 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-12196661
13.
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
Neurology
; 55(9): 1388-90, 2000 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-11087788
14.
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Neurology
; 59(2): 284-7, 2002 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-12136074
15.
Revertant fibres: a possible genetic therapy for Duchenne muscular dystrophy?
Neuromuscul Disord
; 7(5): 329-35, 1997 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-9267847
16.
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
17.
A splice-site mutation causing ovine McArdle's disease.
Neuromuscul Disord
; 7(5): 336-42, 1997 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-9267848
18.
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.
Neuromuscul Disord
; 9(8): 573-9, 1999 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-10619715
19.
Early onset chromosome 14-linked distal myopathy (Laing).
Neuromuscul Disord
; 12(4): 350-7, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12062252
20.
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.
Neuromuscul Disord
; 12(10): 947-51, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12467750