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.
Antimicrobial susceptibility of clinical isolates of Neisseria gonorrhoeae to alternative antimicrobials with therapeutic potential.
J Antimicrob Chemother
; 72(8): 2273-2277, 2017 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28505331
4.
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Ann Neurol
; 78(6): 982-994, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26418456
5.
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
Inglês
| MEDLINE | ID: mdl-25529940
6.
Clinical and cardiovascular magnetic resonance profile of cardiomyopathy patients from South Africa: Pilot of the IMHOTEP study.
Int J Cardiol
; 399: 131767, 2024 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38211678
7.
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
Nat Genet
; 9(1): 75-9, 1995 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-7704029
8.
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nat Genet
; 28(1): 37-41, 2001 May.
Artigo
Inglês
| MEDLINE | ID: mdl-11326272
9.
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
Inglês
| MEDLINE | ID: mdl-10508519
10.
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. / Myosinspeichermyopathie: eine seltene Unterform der Proteinaggregationsmyopathien.
Fortschr Neurol Psychiatr
; 78(4): 219-22, 2010 Apr.
Artigo
Alemão
| MEDLINE | ID: mdl-20376763
11.
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
12.
Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle's disease: expression and re-expression of glycogen phosphorylase.
Neuromuscul Disord
; 18(3): 248-58, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18343113
13.
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.
Nat Genet
; 10(2): 249, 1995 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-7663526
14.
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Neuromuscul Disord
; 28(10): 828-836, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30166250
15.
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
16.
'Cap myopathy': case report of a family.
Neuromuscul Disord
; 16(4): 277-81, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16531045
17.
P-glycoprotein binding and modulation of the multidrug-resistant phenotype by estramustine.
J Natl Cancer Inst
; 86(9): 688-94, 1994 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-7908988
18.
Amplification of the ATP-binding cassette 2 transporter gene is functionally linked with enhanced efflux of estramustine in ovarian carcinoma cells.
Cancer Res
; 58(7): 1332-7, 1998 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-9537224
19.
Mitochondrial oligomers boost glycolysis in cancer stem cells to facilitate blebbishield-mediated transformation after apoptosis.
Cell Death Discov
; 2: 16003, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27551498
20.
Susceptibility to drug-induced apoptosis correlates with differential modulation of Bad, Bcl-2 and Bcl-xL protein levels.
Cell Death Differ
; 7(6): 574-86, 2000 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-10822281