Associated Papers
Rare Variants Cause Charcot-Marie-Tooth Disease in Malian Families.
Yalcouyé A et al.
Brain and Behavior, 2025
Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.
Huang X et al.
Plos One, 2025
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Yeetong P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
How to Detect Isolated PEX10-Related Cerebellar Ataxia?
Nava E et al.
Neuropediatrics, 2022
Cholic acid therapy in Zellweger spectrum disorders.
Berendse K et al.
Journal of Inherited Metabolic Disease, 2016
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