Associated Papers
Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.
Biglari S et al.
Clinical Genetics, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Novis LE et al.
Parkinsonism & Related Disorders, 2024
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.
Fernández-Burriel M et al.
Pediatric Research, 2008
[Vitamin E deficiency ataxia in a family with possible cardiac involvement].
Lucas-Del-Pozo S et al.
Neurologia, 0
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