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
Chloroplast-localized PITP7 is essential for plant growth and photosynthetic function in Arabidopsis.
Kim EH et al.
Physiologia Plantarum, 2022
36004734 (PubMed )
Supplement: PPL-174-0-s002.pdf
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Shakya S et al.
Clinical Genetics, 2019
Impaired α-TTP-PIPs interaction underlies familial vitamin E deficiency.
Kono N et al.
Science (new York, N.y.), 2013
Ataxia with vitamin E deficiency: update of molecular diagnosis.
Di Donato I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2010
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
Ataxia with Vitamin E Deficiency: A Never to be Missed Treatable Ataxia.
Agarwal A et al.
Annals of Indian Academy of Neurology, 0
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