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
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Ataxia with vitamin e deficiency in norway.
Elkamil A et al.
Journal of Movement Disorders, 2015
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
Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein.
Qian J et al.
Biochemistry, 2006
Molecular mechanisms of vitamin E transport.
Stocker A
Annals of the New York Academy of Sciences, 2004
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
Molecular determinants of heritable vitamin E deficiency.
Morley S et al.
Biochemistry, 2004
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Triepels RH et al.
Annals of Neurology, 1999
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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