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
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Chloroplast-localized PITP7 is essential for plant growth and photosynthetic function in Arabidopsis.
Kim EH et al.
Physiologia Plantarum, 2022
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
Structural consequences of mutations to the α-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency.
Bromley D et al.
Biochemistry, 2013
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
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
First case of ataxia with isolated vitamin E deficiency in the Netherlands.
Ponten SC et al.
Parkinsonism & Related Disorders, 2007
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