Novel mutations in siblings with later-onset PLA2G6 -associated neurodegeneration (PLAN)
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.23617/fullpdf
Reference5 articles.
1. PLA2G6, encoding phospholipase A2, is mutated in neurodegenerative disorders with high brain iron;Morgan;Nat Genet,2006
2. Characterization of PLA2G6 as a locus for dystonia-parkinsonism;Paisan-Ruiz;Ann Neurol,2009
3. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations;Paisan-Ruiz;Neurobiol Aging,2010
4. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN);Kurian;Neurology,2008
5. Multiplex ligation dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis;Crompton;Mol Gen Metab,2010
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1. A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review;Frontiers in Neurology;2024-04-18
2. Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients;Orphanet Journal of Rare Diseases;2023-07-05
3. Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature;Frontiers in Neuroscience;2022-12-09
4. NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes;Molecular Genetics and Genomics;2022-08-24
5. Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration;Frontiers in Neurology;2022-07-13
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