Associated Papers
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
Rafehi H et al.
Genome Research, 2025
Unveiling Spinocerebellar Ataxia 25: First Case Report of a Brazilian Family.
Tenorio RB et al.
Cerebellum (london, England), 2025
Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.
Haddad S et al.
European Journal of Neurology, 2025
Unravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss.
Nallapaneni LM et al.
Cerebellum (london, England), 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M et al.
Annals of Neurology, 2022
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