Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-06899-2.pdf
Reference5 articles.
1. Ramirez A, Heimbach A, Gründemann 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. https://doi.org/10.1038/ng1884
2. Park JS, Blair NF, Sue CM (2015) The role of ATP13A2 in Parkinson’s disease: clinical phenotypes and molecular mechanisms. Mov Disord 30:770–779. https://doi.org/10.1002/mds.26243
3. Abbas MM, Govindappa ST, Sheerin UM, Bhatia KP, Muthane UB (2016) Exome sequencing identifies a novel homozygous missense ATP13A2 mutation. Mov Disord Clin Pract 4:132–135. https://doi.org/10.1002/mdc3.12353
4. Podhajska A, Musso A, Trancikova A et al (2012) Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism. PLoS One 7:e39942. https://doi.org/10.1371/journal.pone.0039942
5. 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. https://doi.org/10.1212/01.wnl.0000260963.08711.08
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy;Neurogenetics;2024-07-18
2. Kufor-Rakeb Syndrome-Associated Psychosis: A Novel Loss-of-FunctionATP13A2Variant and Response to Treatment;2024-01-17
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