Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

(2011) Choong Yi Fong et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

(2011) Jin-Sung Park et al.   HUMAN MUTATION

ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation

(2011) Hsin Fen Chien et al.   MOVEMENT DISORDERS

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

(2010) A. S. Al-Din et al.   ACTA NEUROLOGICA SCANDINAVICA

Recessively Inherited Parkinsonism

(2010) Norbert Brüggemann et al.   ARCHIVES OF NEUROLOGY

Rapid screening of ATP13A2 variant with high-resolution melting analysis

(2010) Manabu Funayama et al.   MOVEMENT DISORDERS

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

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

(2010) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

(2010) Lucio Santoro et al.   NEUROGENETICS

Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China

(2010) Qing-Zhou Fei et al.   NEUROSCIENCE LETTERS

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

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

ATP13A2variants in early-onset Parkinson's disease patients and controls

(2009) Ana Djarmati et al.   MOVEMENT DISORDERS

ATP13A2 G2236A variant is rare in patients with early-onset Parkinson's disease and familial Parkinson's disease from mainland China

(2009) X.-Y. Mao et al.   PARKINSONISM & RELATED DISORDERS

ATP13A2variability in Parkinson disease

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

Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore

(2008) C. H. Lin et al.   NEUROLOGY

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

(2008) Y. P. Ning et al.   NEUROLOGY