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
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.
Andjelkovic M et al.
Molecular Diagnosis & Therapy, 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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