Search filters

List of works by Hiroyuki Tomiyama

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

scientific article

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

scientific article

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

scientific article

Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.

scientific article

Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier

scientific article

LRRK2 P755L variant in sporadic Parkinson's disease

scientific article published on 16 October 2008

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

scientific article

Large-scale replication and heterogeneity in Parkinson disease genetic loci

scientific article

Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population

scientific article published in February 2007

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines

scientific article

Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism

scientific article

Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease

scientific article published on June 2008

Novel PINK1 mutations in early-onset parkinsonism

scientific article

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

scientific article

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

scientific article

Progress in the pathogenesis and genetics of Parkinson's disease

scientific article published on June 2008

Rapid screening of ATP13A2 variant with high-resolution melting analysis

scientific article published in October 2010

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease

scientific article published on 22 July 2011

Paulina is supported by:

About Paulina

Help