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
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Choquet K et al.
Brain : a Journal of Neurology, 2016
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