Detalhe da pesquisa
1.
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
Hum Mol Genet
; 29(1): 20-30, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31511858
2.
Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia.
J Paediatr Child Health
; 58(2): 281-287, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387892
3.
Descriptive epidemiological study of rare, less common and common cancers in Western Australia.
BMC Cancer
; 21(1): 779, 2021 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233636
4.
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.
Hum Mol Genet
; 27(4): 638-648, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29293963
5.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
6.
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Hum Mol Genet
; 24(22): 6278-92, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307083
7.
X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction.
J Struct Biol
; 192(3): 331-335, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26407659
8.
Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.
Hum Mol Genet
; 22(21): 4398-404, 2013 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23784376
9.
Cardiac α-actin over-expression therapy in dominant ACTA1 disease.
Hum Mol Genet
; 22(19): 3987-97, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23736297
10.
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.
Acta Neuropathol
; 130(3): 389-406, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25931053
11.
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Am J Hum Genet
; 88(6): 729-740, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21620354
12.
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Brain
; 136(Pt 2): 494-507, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23378224
13.
"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.
Eur J Hum Genet
; 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637700
14.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Am J Hum Genet
; 87(6): 842-7, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21109227
15.
Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
Acta Neuropathol
; 125(1): 19-32, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22825594
16.
Combined population genomic screening for three high-risk conditions in Australia: a modelling study.
EClinicalMedicine
; 66: 102297, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192593
17.
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.
Brain
; 134(Pt 4): 1101-15, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21303860
18.
Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene.
Stem Cell Res
; 63: 102829, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35728439
19.
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.
Stem Cell Res
; 63: 102830, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35728440
20.
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.
Stem Cell Res
; 53: 102273, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33740643