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Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.
Autosomal dominant parkinsonism has been attributed to pathogenic amino acid substitutions in leucine-rich repeat kinase 2 (LRRK2). By sequencing multiplex families consistent with a PARK8Expand
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Linkage disequilibrium and association of MAPT H1 in Parkinson disease.
The MAPT H1 haplotype has been associated with four-repeat (4R) tauopathies, including progressive supranuclear palsy, corticobasal degeneration, and argyrophilic grain disease. More controversial isExpand
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Parkinson's disease correlates with promoter methylation in the α‐synuclein gene
Genome‐wide association studies have demonstrated association between SNCA variability and susceptibility to Parkinson's disease, but causal mechanisms are unclear. We hypothesized that risk variantsExpand
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Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four generations. Genetic studies have revealed aExpand
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Genomewide association, Parkinson disease, and PARK10.
The authors thank the patients and families for their participation in this study. Mayo Clinic Jacksonville is an M. K. Udall Parkinson’s Disease Research Center of Excellence (National Institute ofExpand
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Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.
The role of genetics in parkinsonism has been confirmed over the last decade with the identification of genetic variation in seven genes, which are causative in familial forms of the disorder. AExpand
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Parkinsonism, FXTAS, and FMR1 premutations
The presence of late‐onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptomsExpand
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Parkinson’s disease genetics: identifying novel risk loci, providing causal insights and improving estimates of heritable risk
We performed the largest genetic study of Parkinson9s disease to date, involving analysis of 11.4M SNPs in 37.7K cases, 18.6K 9proxy-cases9 and 1.4M controls, discovering 39 novel risk loci. InExpand
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Parkinson’s disease genetics: identifying novel risk loci, providing causal insights and improving estimates of heritable risk
We performed the largest genetic study of Parkinson9s disease to date, involving analysis of 11.4M SNPs in 37.7K cases, 18.6K 9proxy-cases9 and 1.4M controls, discovering 39 novel risk loci. InExpand
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Genetic variability in SNCA and Parkinson’s disease
Over the last decades, increasing knowledge about the genetic architecture of Parkinson’s disease has provided novel insights into the pathogenesis of the disorder, generating hypotheses for furtherExpand
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