Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder
retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for~ 50 …
retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for~ 50 …
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset
While many genetic causes of movement disorders have been identified, modifiers of
disease expression are largely unknown. X-linked dystonia-parkinsonism (XDP) is a …
disease expression are largely unknown. X-linked dystonia-parkinsonism (XDP) is a …
Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?
A Domingo, LV Lee, N Brüggemann… - JAMA …, 2014 - jamanetwork.com
Importance Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease)
has also been described in women presenting with a late-onset isolated parkinsonian …
has also been described in women presenting with a late-onset isolated parkinsonian …
Parkinson's disease age at onset genome‐wide association study: defining heritability, genetic loci, and α‐synuclein mechanisms
C Blauwendraat, K Heilbron, CL Vallerga… - Movement …, 2019 - Wiley Online Library
Background Increasing evidence supports an extensive and complex genetic contribution to
PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic …
PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic …
Identification of genetic modifiers of age-at-onset for familial Parkinson's disease
EM Hill-Burns, OA Ross, WT Wissemann… - Human molecular …, 2016 - academic.oup.com
Parkinson's disease (PD) is the most common cause of neurodegenerative movement
disorder and the second most common cause of dementia. Genes are thought to have a …
disorder and the second most common cause of dementia. Genes are thought to have a …
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
A Domingo, A Westenberger, LV Lee… - European Journal of …, 2015 - nature.com
X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly
prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic …
prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic …
Inefficient DNA repair is an aging-related modifier of Parkinson's disease
S Sepe, C Milanese, S Gabriels, KWJ Derks… - Cell reports, 2016 - cell.com
The underlying relation between Parkinson's disease (PD) etiopathology and its major risk
factor, aging, is largely unknown. In light of the causative link between genome stability and …
factor, aging, is largely unknown. In light of the causative link between genome stability and …
A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism
Objective X‐linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder
caused by a single mutation: SINE‐VNTR‐Alu (SVA) retrotransposon insertion in TAF1 …
caused by a single mutation: SINE‐VNTR‐Alu (SVA) retrotransposon insertion in TAF1 …
Whole-exome sequencing in familial Parkinson disease
Importance Parkinson disease (PD) is a progressive neurodegenerative disease for which
susceptibility is linked to genetic and environmental risk factors. Objective To identify genetic …
susceptibility is linked to genetic and environmental risk factors. Objective To identify genetic …
Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk
Parkinson's disease is a complex neurodegenerative disorder with a strong genetic
component, for which most known disease-associated variants are single nucleotide …
component, for which most known disease-associated variants are single nucleotide …