Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

(2019) Siri L Rydning et al.   BRAIN

From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations

(2019) Roberto Erro et al.   PARKINSONISM & RELATED DISORDERS

ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function

(2017) S. Demirsoy et al.   HUMAN MOLECULAR GENETICS

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara et al.   BRAIN

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

(2016) Bart P van de Warrenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

(2015) Celeste Montecchiani et al.   BRAIN

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms

(2015) Jin-Sung Park et al.   MOVEMENT DISORDERS

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

(2011) H Eiberg et al.   CLINICAL GENETICS

PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

(2011) David Ramonet et al.   HUMAN MOLECULAR GENETICS

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

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY