Associated Papers
A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.
Das N et al.
American Journal of Medical Genetics. Part A, 2025
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Shalash A et al.
Frontiers in Genetics, 2025
40786864 (PubMed )
Supplement: Table1.xlsx › S.table1
Rare variant analysis of PLXNA1 in Parkinson's disease in the Chinese population.
Li C et al.
Genes & Diseases, 2023
Rare variant screening and burden analysis of PLXNA1 in Parkinson's disease.
Li C et al.
European Journal of Neurology, 2022
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1.
O'Shea SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak GC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34054129 (PubMed )
Supplement: EMS128249-supplement-Supplementary_Information.pdf
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