Associated Papers
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.
Biglari S et al.
Clinical Genetics, 2025
Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India.
Holla VV et al.
Journal of Movement Disorders, 2024
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship.
Abramowicz S et al.
Neurogenetics, 2024
Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.
Bremova-Ertl T et al.
Cells, 2023
A subtle presentation of a treatable cause of predominant hemidystonia with minimal ataxia: Expert commentary.
Teive HAG
Parkinsonism & Related Disorders, 2023
Treatable Ataxias: How to Find the Needle in the Haystack?
Stezin A et al.
Journal of Movement Disorders, 2022
Chloroplast-localized PITP7 is essential for plant growth and photosynthetic function in Arabidopsis.
Kim EH et al.
Physiologia Plantarum, 2022
A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia.
Bonello M et al.
Case Reports in Neurological Medicine, 2016
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene.
Kono S et al.
Journal of Neurology, 2009
Genetics and pathogenesis of inherited ataxias and spastic paraplegias.
Espinós C et al.
Advances in Experimental Medicine and Biology, 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
Alpha-tocopherol transfer protein deficiency in mice causes multi-organ deregulation of gene networks and behavioral deficits with age.
Gohil K et al.
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
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency.
Gabsi S et al.
European Journal of Neurology, 2001
Hereditary vitamin-E deficiency.
Gordon N
Developmental Medicine and Child Neurology, 2001
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
Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene.
Yokota T et al.
Annals of Neurology, 1997
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.
Gotoda T et al.
The New England Journal of Medicine, 1995
Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene.
Pang J et al.
Japanese Journal of Ophthalmology, 0
Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.
Marzouki N et al.
European Journal of Medical Genetics, 0
Familial vitamin E deficiency: Multiorgan complications support the adverse role of oxidative stress.
Trotta E et al.
Nutrition (burbank, Los Angeles County, Calif.), 0