From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Geriatrics and Gerontology,Neurology
Reference5 articles.
1. Genetics of movement disorders and the practicing clinician; who and what to test for?;Di Fonzo;Curr. Neurol. Neurosci. Rep.,2018
2. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis;Bras;Hum. Mol. Genet.,2012
3. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78);Estrada-Cuzcano;Brain,2017
4. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability;Santoro;Neurogenetics,2011
5. The role of ATP13A2 in Parkinson's disease: clinical phenotypes and molecular mechanisms;Park;Mov. Disord.,2015
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1. A novel ATP13A2 variant causing complicated hereditary spastic paraplegia;Neurological Sciences;2024-01-22
2. Dystonia and Parkinson’s disease: Do they have a shared biology?;International Review of Neurobiology;2023
3. ATP13A2 is a Prognostic Biomarker and Correlates with Immune Infiltrates in Hepatocellular Carcinoma;Journal of Gastrointestinal Surgery;2022-09-20
4. Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene;Movement Disorders Clinical Practice;2022-07-12
5. A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia;Parkinsonism & Related Disorders;2021-05
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