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
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
Ataxia with vitamin E deficiency in the Philippines : A case report of two siblings.
Tabuena MD et al.
The Journal of Medical Investigation : Jmi, 2021
Ataxia with vitamin e deficiency in norway.
Elkamil A et al.
Journal of Movement Disorders, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
Mariotti C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2004
alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.
Tamaru Y et al.
Neurology, 1997
[Vitamin E deficiency ataxia in a family with possible cardiac involvement].
Lucas-Del-Pozo S et al.
Neurologia, 0
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