Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein (Q34308654)

1 August 2017

title

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein (English)

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1 August 2017

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Ouahchi K

1

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Arita M

2

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Kayden H

3

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Hentati F

4

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Ben Hamida M

5

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Sokol R

6

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Arai H

7

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Inoue K

8

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Mandel JL

9

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Koenig M

10

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language of work or name

English

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publication date

1 February 1995

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1 August 2017

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1 August 2017

volume

9

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1 August 2017

issue

2

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1 August 2017

page(s)

141-145

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VITAMIN E AND NEUROLOGICAL FUNCTION

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cites work

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https://api.crossref.org/works/10.1038%2FNG0295-141

Spinocerebellar degeneration associated with a selective defect of vitamin E absorption.

21 January 2018

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Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families

21 January 2018

1 reference

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Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-141

A first-generation physical map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-141

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0295-141

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-141

Neuromyopathy and vitamin E deficiency in man

21 January 2018

1 reference

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7 January 2021

Isolated deficiency of vitamin E with progressive neurologic deterioration

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency

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https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

A progressive neurological syndrome associated with an isolated vitamin E deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E

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https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

Isolated vitamin E deficiency

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https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver

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https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

Human plasma vitamin E kinetics demonstrate rapid recycling of plasma RRR-alpha-tocopherol

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https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

The neurologic syndrome of vitamin E deficiency: a significant cause of ataxia

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https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

Enhancement of the Transfer of α‐Tocopherol between Liposomes and Mitochondria by Rat‐Liver Protein(s)

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https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

Purification and characterization of the alpha-tocopherol transfer protein from rat liver

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https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

Growth factors and vitamin E modify neuronal glutamate toxicity

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https://api.crossref.org/works/10.1038%2FNG0295-141

7 January 2021

The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.

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7 January 2021

Identifiers

DOI

10.1038/NG0295-141

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1 August 2017

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