Associated Papers
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Kurtovic-Kozaric A et al.
Orphanet Journal of Rare Diseases, 2024
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
Bozkurt-Yozgatli T et al.
Bmc Medical Genomics, 2024
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
Mahdieh N et al.
Scientific Reports, 2021
Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism.
Yamashita C et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2017
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