Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability-Reference-Cited by-同舟云学术

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

Published:2010-09-21 Issue:1 Volume:12 Page:33-39
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Santoro Lucio,Breedveld Guido J.,Manganelli Fiore,Iodice Rosa,Pisciotta Chiara,Nolano Maria,Punzo Francesca,Quarantelli Mario,Pappatà Sabina,Di Fonzo Alessio,Oostra Ben A.,Bonifati Vincenzo

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-010-0259-0

Reference20 articles.

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2. Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ (2005) Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 20:1264–1271

3. Ramirez A, Heimbach A, Grundemann J et al (2006) Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 38:1184–1191

4. Di Fonzo A, Chien HF, Socal M et al (2007) ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology 68:1557–1562

5. Ning YP, Kanai K, Tomiyama H et al (2008) PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. Neurology 70:1491–1493

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