Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families (Q24538688)

2

K

Ouahchi

1 reference

22 October 2023

H J Kayden

3

H J

Kayden

1 reference

22 October 2023

S Di Donato

4

S

Di Donato

1 reference

22 October 2023

L Reutenauer

5

L

Reutenauer

1 reference

22 October 2023

M Koenig

7

M

American Journal of Human Genetics

Koenig

1 reference

22 October 2023

language of work or name

English

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publication date

February 1998

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published in

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volume

62

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page(s)

301-10

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issue

2

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cites work

Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376876

Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families

24 March 2017

1 reference

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Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

24 March 2017

1 reference

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Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

24 March 2017

1 reference

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

24 March 2017

1 reference

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

24 March 2017

1 reference

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Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376876

Isolated vitamin E deficiency and progressive ataxia

27 September 2017

1 reference

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

27 September 2017

1 reference

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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

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376876

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376876

Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein

27 September 2017

1 reference

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Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up.

27 September 2017

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

27 September 2017

1 reference

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Isolated vitamin E deficiency

27 September 2017

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

27 September 2017

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Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria.

30 May 2018

1 reference

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Neuromyopathy and vitamin E deficiency in man

29 November 2018

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12 December 2020

Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene

1 reference

12 December 2020

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

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12 December 2020

Isolated deficiency of vitamin E with progressive neurologic deterioration

1 reference

12 December 2020

Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency

1 reference

12 December 2020

Isolated vitamin E deficiency in the absence of fat malabsorption--familial and sporadic cases: characterization and investigation of causes

1 reference

12 December 2020

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

1 reference

12 December 2020

Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency

1 reference

12 December 2020

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

12 December 2020

Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein

1 reference

12 December 2020

Ataxia with isolated vitamin E deficiency in four siblings

1 reference

12 December 2020

A progressive neurological syndrome associated with an isolated vitamin E deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1086/301699

1 reference

release_5gyjy745drf4bgk2laokgs26ii

1576748

Fatcat ID

0 references

1576748

1 reference

1 reference

1 reference