DNAJC13genetic variants in parkinsonism

RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation

(2014) C. L. Freeman et al.   JOURNAL OF CELL SCIENCE

DNAJC13 mutations in Parkinson disease

(2013) Carles Vilariño-Güell et al.   HUMAN MOLECULAR GENETICS

DNAJ mutations are rare in Chinese Parkinson's disease patients and controls

(2013) Jia Nee Foo et al.   NEUROBIOLOGY OF AGING

Recurrent mutations inDNAJC5cause autosomal dominant Kufs disease

(2012) M Cadieux-Dion et al.   CLINICAL GENETICS

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

(2012) Eleanna Kara et al.   NEUROBIOLOGY OF AGING

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VPS35 Mutations in Parkinson Disease

(2011) Carles Vilariño-Güell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

SNCAvariants are associated with increased risk for multiple system atrophy

(2009) Sonja W. Scholz et al.   ANNALS OF NEUROLOGY

Genetic Variants of the α-Synuclein Gene SNCA Are Associated with Multiple System Atrophy

(2009) Ammar Al-Chalabi et al.   PLoS One

Analysis of Articulation Between Clathrin and Retromer in Retrograde Sorting on Early Endosomes

(2009) Vincent Popoff et al.   TRAFFIC