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| Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration |
| Jong Kyu Park, Jinyoung Youn, Jin Whan Cho |
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Precis Future Med. 2019;3(3):135-138. Published online September 24, 2019 DOI: https://doi.org/10.23838/pfm.2019.00086 |
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Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration Precision and Future Medicine. 2019;3(3):135-138  Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity Parkinsonism & Related Disorders. 2015;21(4):402-406 PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes Frontiers in Neurology. 2018;9: Identification of a novel mutation in PLA2G6 gene and phenotypic heterogeneity analysis of PLA2G6-related neurodegeneration Parkinsonism & Related Disorders. 2019;65:159-164 Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration Frontiers in Neurology. 2022;13: Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration Parkinsonism & Related Disorders. 2018;49:88-94 A Case of PLA2G6-Associated Neurodegeneration with Frequent Myoclonus And Generalized Onset Tonic-Clonic Seizures: Successful Treatment with Zonisamide Journal of Clinical Neurology. 2021;17(2):319 Family variables associated with the onset and impact of intrafamilial childhood sexual abuse Clinical Psychology Review. 1995;15(5):443-456 A Novel
SGCE
Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With MyoclonusâDystonia Movement Disorders Clinical Practice. 2019;6(6):479-482 Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration Movement Disorders. 2003;19(1):36-42 |
