(Q24671731)

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

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

vitamin D deficiency

0 references

vitamin E deficiency

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

linkage disequilibrium

1 reference

based on heuristic

inferred from title

Jean Weissenbach

5

0 references

Alfried Kohlschütter

1 reference

ORCID Public Data File 2021

author name string

N Doerflinger

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

C Linder

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

K Ouahchi

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

G Gyapay

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

D Le Paslier

6

1 reference

Europe PubMed Central

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24 October 2019

P Rigault

7

1 reference

Europe PubMed Central

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24 October 2019

S Belal

8

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

C Ben Hamida

9

1 reference

Europe PubMed Central

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24 October 2019

F Hentati

10

1 reference

Europe PubMed Central

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24 October 2019

J Weissenbach

5

1 reference

Europe PubMed Central

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24 October 2019

language of work or name

0 references

publication date

1 May 1995

1 reference

Europe PubMed Central

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24 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

56

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1116-1124

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

The 1993-94 Généthon human genetic linkage map

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

7 April 2017

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

7 April 2017

A first-generation physical map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

28 September 2017

Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

28 September 2017

Mapping the whole human genome by fingerprinting yeast artificial chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

28 September 2017

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

28 September 2017

Isolated vitamin E deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801469

28 July 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Membrane transfer of alpha-tocopherol. Influence of soluble alpha-tocopherol-binding factors from the liver, lung, heart, and brain of the rat

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuromyopathy and vitamin E deficiency in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

VITAMIN E AND NEUROLOGICAL FUNCTION

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated deficiency of vitamin E with progressive neurologic deterioration

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726167%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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