(Q42176216)

18 October 2017

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia (English)

1 reference

18 October 2017

1 reference

A Filla

1

1 reference

18 October 2017

G De Michele

2

1 reference

18 October 2017

F Cavalcanti

3

1 reference

18 October 2017

L Pianese

4

1 reference

18 October 2017

A Monticelli

5

1 reference

18 October 2017

G Campanella

6

1 reference

18 October 2017

S Cocozza

7

1 reference

18 October 2017

language of work or name

English

0 references

publication date

1 September 1996

1 reference

American Journal of Human Genetics

18 October 2017

1 reference

18 October 2017

59

1 reference

18 October 2017

554-560

1 reference

18 October 2017

3

1 reference

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

Trinucleotide repeat expansions and human genetic disease

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

Intrafamilial correlation in Friedreich's ataxia

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

The heart in Friedreich's ataxia

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

Late onset recessive ataxia with Friedreich's disease phenotype

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914893

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 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker

1 reference

12 December 2020

Prenatal diagnosis of friedreich ataxia

1 reference

12 December 2020

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

1 reference

12 December 2020

Identifiers

1 reference

18 October 2017

1 reference