Associated Papers
Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia.
Bagabir HA et al.
Pakistan Journal of Medical Sciences, 2024
Next-Generation Sequencing Technologies and Neurogenetic Diseases.
Sun H et al.
Life (basel, Switzerland), 2021
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants.
Takahashi Y et al.
Brain & Development, 2021
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