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
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Mahdieh N et al.
Human Genomics, 2024
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship.
Abramowicz S et al.
Neurogenetics, 2024
A subtle presentation of a treatable cause of predominant hemidystonia with minimal ataxia.
Wrigley SM et al.
Parkinsonism & Related Disorders, 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
Clinical and genetic study of ataxia with vitamin E deficiency: A case report.
Zhang LW et al.
World Journal of Clinical Cases, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Autosomal recessive adult onset ataxia.
Dragašević-Mišković N et al.
Journal of Neurology, 2022
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.
Maalej M et al.
Acta Neurologica Belgica, 2021
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
First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy.
Kohlschütter A et al.
Neuro-degenerative Diseases, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Genetics and genomic medicine in Tunisia.
Elloumi-Zghal H et al.
Molecular Genetics & Genomic Medicine, 2018
Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation).
Rahmoune H et al.
Italian Journal of Pediatrics, 2017
Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation.
Zelante G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Mallaret M et al.
Journal of Neurology, 2016
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
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
Hamza W et al.
Bmc Medical Genetics, 2015
Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene.
Iwasa K et al.
Journal of the Neurological Sciences, 2014
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
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
Exome sequencing can improve diagnosis and alter patient management.
Dixon-Salazar TJ et al.
Science Translational Medicine, 2012
Epilepsy in a patient with ataxia caused by vitamin E deficiency.
Müller KI et al.
Bmj Case Reports, 2011
[Clinical details and genetics of recessive ataxias].
Zühlke C et al.
Der Nervenarzt, 2011
Ataxias with autosomal, X-chromosomal or maternal inheritance.
Finsterer J
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2009
Ataxia with vitamin E deficiency in southeast Norway, case report.
Koht J et al.
Acta Neurologica Scandinavica. Supplementum, 2009
Genetics and pathogenesis of inherited ataxias and spastic paraplegias.
Espinós C et al.
Advances in Experimental Medicine and Biology, 2009
Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy.
Fusco C et al.
Journal of Child Neurology, 2008
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
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.
Bouhlal Y et al.
Journal of Neurogenetics, 2008
First case of ataxia with isolated vitamin E deficiency in the Netherlands.
Ponten SC et al.
Parkinsonism & Related Disorders, 2007
Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency.
Doria-Lamba L et al.
European Journal of Pediatrics, 2006
Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich's ataxia.
Federico A
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.
Benomar A et al.
Journal of the Neurological Sciences, 2002
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency.
Gabsi S et al.
European Journal of Neurology, 2001
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.
Di Donato S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders.
Copp RP et al.
Brain Research, 1999
Vitamin E deficiency ataxia associated with adenoma.
Benomar A et al.
Journal of the Neurological Sciences, 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
alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.
Tamaru Y et al.
Neurology, 1997
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
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.
Ouahchi K et al.
Nature Genetics, 1995
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
[Vitamin E deficiency ataxia in a family with possible cardiac involvement].
Lucas-Del-Pozo S et al.
Neurologia, 0