(Q33732929)

29 July 2017

title

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus (English)

1 reference

29 July 2017

3

F Cavalcanti

1 reference

29 July 2017

G De Michele

1

1 reference

29 July 2017

A Filla

2

1 reference

29 July 2017

L Di Maio

4

1 reference

29 July 2017

L Pianese

5

1 reference

29 July 2017

I Castaldo

6

1 reference

29 July 2017

O Calabrese

7

1 reference

29 July 2017

A Monticelli

8

1 reference

29 July 2017

S Varrone

9

1 reference

29 July 2017

G Campanella

10

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 August 1994

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

29 July 2017

published in

1 reference

29 July 2017

volume

57

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29 July 2017

issue

8

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29 July 2017

page(s)

977-979

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073086

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073086

Late onset recessive ataxia with Friedreich's disease phenotype

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073086

Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedrich's ataxia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073086

Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073086

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073086

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073086

Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073086

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

30 October 2018

1 reference

12 December 2020

Friedreich's ataxia: electrophysiologic and histologic findings in patients and relatives

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

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

1 reference

12 December 2020

A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.57.8.977

1 reference

29 July 2017

1 reference

29 July 2017

1 reference