Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

(2011) Fabiana H.G. Farias et al.   NEUROBIOLOGY OF DISEASE

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

(2011) Anne Wöhlke et al.   PLoS Genetics

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

(2010) David Crosiers et al.   PARKINSONISM & RELATED DISORDERS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo

(2009) Valerie Cullen et al.   Molecular Brain

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

(2008) Jose Bras et al.   FEBS Journal

ATP13A2variability in Parkinson disease

(2008) Carles Vilariño-Güell et al.   HUMAN MUTATION

Principles of bioactive lipid signalling: lessons from sphingolipids

(2008) Yusuf A. Hannun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE

(2008) Y. P. Ning et al.   NEUROLOGY