Detalhe da pesquisa
1.
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.
BMC Ophthalmol
; 20(1): 68, 2020 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32093627
2.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
3.
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Am J Hum Genet
; 95(2): 218-26, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087613
4.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Am J Hum Genet
; 93(6): 1108-17, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268659
5.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Am J Hum Genet
; 93(1): 6-18, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746549
6.
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
7.
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Ann Clin Transl Neurol
; 7(3): 353-362, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32153140
8.
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.
J Neurol Neurosurg Psychiatry
; 85(9): 1058-60, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24610938
9.
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Orphanet J Rare Dis
; 10: 148, 2015 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26578207
10.
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Neuromuscul Disord
; 23(2): 165-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23218673