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CrossRef Text and Data Mining |
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Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration |
Jong Kyu Park, Jinyoung Youn, Jin Whan Cho |
Precis Future Med. 2019;3(3):135-138. Published online September 24, 2019 DOI: https://doi.org/10.23838/pfm.2019.00086 |
Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes Identification of a novel mutation in PLA2G6 gene and phenotypic heterogeneity analysis of PLA2G6-related neurodegeneration Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration A Case of PLA2G6-Associated Neurodegeneration with Frequent Myoclonus And Generalized Onset Tonic-Clonic Seizures: Successful Treatment with Zonisamide Family variables associated with the onset and impact of intrafamilial childhood sexual abuse A Novel
SGCE
Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With MyoclonusâDystonia Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration |