Detalhe da pesquisa
1.
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
J Neurochem
; 143(5): 507-522, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28902413
2.
Generation of a novel rodent model for DYT1 dystonia.
Neurobiol Dis
; 47(1): 61-74, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22472189
3.
Prevalence of THAP1 sequence variants in German patients with primary dystonia.
Mov Disord
; 25(12): 1982-6, 2010 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20669277
4.
Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
Mov Disord
; 27(7): 917, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22508326
5.
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.
Eur J Hum Genet
; 24(3): 459-62, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26153215
6.
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
PLoS One
; 11(1): e0145951, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26766544
7.
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
Acta Ophthalmol
; 93(4): e281-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25429852
8.
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Eur J Hum Genet
; 22(1): 99-104, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23591405
9.
A new mutation in enhanced S-cone syndrome.
Acta Ophthalmol
; 96(4): e539-e540, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27573156