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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
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
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Jobling RK et al.
Brain : a Journal of Neurology, 2015
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