Detalhe da pesquisa
1.
The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.
Am J Hum Genet
; 102(5): 845-857, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706347
2.
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease.
Hum Mutat
; 39(12): 1774-1787, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30281865
3.
Progress and prospects of gene therapy clinical trials for the muscular dystrophies.
Hum Mol Genet
; 25(R1): R9-17, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26450518
4.
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
Hum Mol Genet
; 25(5): 866-77, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681802
5.
NF1 is a critical regulator of muscle development and metabolism.
Hum Mol Genet
; 23(5): 1250-9, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24163128
6.
Therapeutic approaches to muscular dystrophy.
Hum Mol Genet
; 20(R1): R69-78, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21436158
7.
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
Hum Mol Genet
; 20(15): 2914-27, 2011 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21536590
8.
An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq.
BMC Med Genomics
; 16(1): 94, 2023 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138349
9.
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
Hum Mol Genet
; 19(7): 1335-46, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20089531
10.
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
Am J Hum Genet
; 83(6): 714-24, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19026398
11.
Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice.
Muscle Nerve
; 43(1): 37-48, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20886650
12.
ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone.
Sci Adv
; 7(27)2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34215586
13.
An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance.
Hum Mol Genet
; 17(8): 1076-86, 2008 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18178581
14.
Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy.
JCI Insight
; 52019 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30990797
15.
Association Between Hematological Parameters and Iron Metabolism Response After Marathon Race and ACTN3 Genotype.
Front Physiol
; 10: 697, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31244673
16.
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
Neuromuscul Disord
; 18(1): 34-44, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17897828
17.
Response to the United Nations Human Rights Council's Report on Race and Gender Discrimination in Sport: An Expression of Concern and a Call to Prioritise Research.
Sports Med
; 51(4): 839-842, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33289907
18.
Therapy of Genetic Disorders-Novel Therapies for Duchenne Muscular Dystrophy.
Curr Pediatr Rep
; 2(2): 102-112, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24883236
19.
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.
J Clin Invest
; 123(10): 4255-63, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24091322
20.
Gene replacement therapies for duchenne muscular dystrophy using adeno-associated viral vectors.
Curr Gene Ther
; 12(3): 139-51, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22533379