(Q37750553)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20464573%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

review article

1 reference

title

Ataxia with vitamin E deficiency: update of molecular diagnosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20464573%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

0 references

0 references

1 reference

3

1 reference

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2 February 2020

author name string

I Di Donato

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20464573%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

S Bianchi

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20464573%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

language of work or name

1 reference

13 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20464573%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

published in

Neurological Sciences

1 reference

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2 February 2020

volume

31

1 reference

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2 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20464573%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

511-515

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10072-010-0261-1

2 February 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10072-010-0261-1

Ataxia with vitamin E deficiency (AVED); an example of the contribution of research in molecular genetic to counselling in Morocco

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-010-0261-1

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-010-0261-1

Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10072-010-0261-1

Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency

21 January 2018

1 reference

12 December 2020

Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency

1 reference

12 December 2020

A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia

1 reference

12 December 2020

Ataxia with isolated vitamin E deficiency and retinitis pigmentosa

1 reference

12 December 2020

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Vitamin E: an overview of major research directions

1 reference

12 December 2020

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient

1 reference

12 December 2020

Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients

1 reference

12 December 2020

Autosomal recessive cerebellar ataxias

1 reference

12 December 2020

First case of ataxia with isolated vitamin E deficiency in the Netherlands

1 reference

12 December 2020

Utility of a fluorescent vitamin E analogue as a probe for tocopherol transfer protein activity

1 reference

12 December 2020

Deciphering the cause of Friedreich ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

Ataxia with vitamin E deficiency and severe dystonia: report of a case

1 reference

12 December 2020

alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia

1 reference

12 December 2020

Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene

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

The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias

1 reference

12 December 2020

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

1 reference

12 December 2020

Assessment of the safety of supplementation with different amounts of vitamin E in healthy older adults.

1 reference

12 December 2020

Recent advances in vitamin E metabolism and deficiency

1 reference

12 December 2020

Ataxia with isolated vitamin E deficiency: case report and review of the literature

1 reference

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

Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency

1 reference

12 December 2020

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family

1 reference

12 December 2020

Primary structure of alpha-tocopherol transfer protein from rat liver. Homology with cellular retinaldehyde-binding protein

1 reference

12 December 2020

Neuromyopathy and vitamin E deficiency in man

1 reference

12 December 2020

Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein

1 reference

12 December 2020

Reply to Drug Insight: antioxidant therapy in inherited ataxias

1 reference

12 December 2020

Vitamin E and neurodegenerative diseases

1 reference

12 December 2020

The alpha-tocopherol transfer protein

1 reference

12 December 2020

Ataxia caused by mutations in the alpha-tocopherol transfer protein gene

1 reference

12 December 2020

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

1 reference

12 December 2020

Regulation of human plasma vitamin E.

1 reference

12 December 2020

Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency

1 reference

12 December 2020

Structure and function of alpha-tocopherol transfer protein: implications for vitamin E metabolism and AVED.

1 reference

12 December 2020

Ataxia with vitamin E deficiency associated with deafness.

1 reference

12 December 2020

Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene

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

Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene

1 reference

12 December 2020

Ataxia with vitamin E deficiency in southeast Norway, case report.

1 reference

12 December 2020

Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia

1 reference

12 December 2020

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

1 reference

12 December 2020

Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency

1 reference

12 December 2020

10.1007/S10072-010-0261-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20464573%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference