Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A subtle presentation of a treatable cause of predominant hemidystonia with minimal ataxia.
Wrigley SM et al.
Parkinsonism & Related Disorders, 2023
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q et al.
Journal of Medical Genetics, 2022
Autosomal recessive adult onset ataxia.
Dragašević-Mišković N et al.
Journal of Neurology, 2022
Pearls & Oy-sters: A Novel Presentation of Ataxia With Vitamin E Deficiency Caused by TTPA Gene Mutation.
Zea Vera A et al.
Neurology, 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
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
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
Ataxia with vitamin e deficiency in norway.
Elkamil A et al.
Journal of Movement Disorders, 2015
Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency.
Rossato M et al.
Andrologia, 2014
Epilepsy in a patient with ataxia caused by vitamin E deficiency.
Müller KI et al.
Bmj Case Reports, 2011
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
First case of ataxia with isolated vitamin E deficiency in the Netherlands.
Ponten SC et al.
Parkinsonism & Related Disorders, 2007
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
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
Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia.
Martinello F et al.
Journal of the Neurological Sciences, 1998
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
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.
Hentati A et al.
Annals of Neurology, 1996
[Vitamin E deficiency ataxia in a family with possible cardiac involvement].
Lucas-Del-Pozo S et al.
Neurologia, 0