Detalhe da pesquisa
1.
Epigenetic Association Analyses and Risk Prediction of RLS.
Mov Disord
; 38(8): 1410-1418, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37212434
2.
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Brain
; 145(2): 644-654, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34590685
3.
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis.
Ann Neurol
; 87(2): 184-193, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31788832
4.
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.
Mov Disord
; 35(7): 1245-1248, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32267580
5.
[Exome diagnostics in neurology]. / Exomdiagnostik in der Neurologie.
Nervenarzt
; 90(2): 131-137, 2019 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-30645660
6.
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
Am J Hum Genet
; 96(6): 883-93, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26004199
7.
Sleep disturbance by pramipexole is modified by Meis1 in mice.
J Sleep Res
; 27(4): e12557, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28695622
8.
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
N Engl J Med
; 370(10): 921-31, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552285
9.
Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.
Genome Res
; 24(4): 592-603, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24642863
10.
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Mov Disord
; 32(4): 549-559, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666935
11.
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
Nat Genet
; 39(8): 1000-6, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17637780
12.
Rare variants in LRRK1 and Parkinson's disease.
Neurogenetics
; 15(1): 49-57, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24241507
13.
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
Hum Mol Genet
; 21(10): 2205-10, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22328086
14.
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
Mov Disord
; 29(12): 1504-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25142429
15.
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
PLoS Genet
; 7(7): e1002171, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779176
16.
Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity.
EBioMedicine
; 101: 105007, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38354534
17.
Implementation and evaluation of personal genetic testing as part of genomics analysis courses in German universities.
BMC Med Genomics
; 16(1): 73, 2023 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020303
18.
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.
J Med Genet
; 48(7): 462-6, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21572129
19.
Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large genome-wide association study dataset of European ancestry.
Sleep
; 45(8)2022 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35486972
20.
ExomeChip-based rare variant association study in restless legs syndrome.
Sleep Med
; 94: 26-30, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35489115