Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.R134*
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TTPA

NM_000370.3:p.R134*

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

A subtle presentation of a treatable cause of predominant hemidystonia with minimal ataxia.

Wrigley SM et al.

Parkinsonism & Related Disorders, 2023

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.

Maalej M et al.

Acta Neurologica Belgica, 2021

Pearls & Oy-sters: A Novel Presentation of Ataxia With Vitamin E Deficiency Caused by TTPA Gene Mutation.

Zea Vera A et al.

Neurology, 2021

Ataxia with vitamin e deficiency in norway.

Elkamil A et al.

Journal of Movement Disorders, 2015

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.

El Euch-Fayache G et al.

Brain : a Journal of Neurology, 2014

Epilepsy in a patient with ataxia caused by vitamin E deficiency.

Müller KI et al.

Bmj Case Reports, 2011

Ataxia with vitamin E deficiency in southeast Norway, case report.

Koht J et al.

Acta Neurologica Scandinavica. Supplementum, 2009

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

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Cavalier L et al.

American Journal of Human Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."