(Q35370722)

8 August 2017

Marked variation in the cardiomyopathy associated with Friedreich's ataxia (English)

1 reference

8 August 2017

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Dutka DP

1

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8 August 2017

Donnelly JE

2

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8 August 2017

Nihoyannopoulos P

3

1 reference

8 August 2017

Oakley CM

4

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8 August 2017

Nunez DJ

5

1 reference

8 August 2017

language of work or name

English

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publication date

1 February 1999

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8 August 2017

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8 August 2017

81

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8 August 2017

2

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8 August 2017

141-147

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

The management of hypertrophic cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Clinical and genetic abnormalities in patients with Friedreich's ataxia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Left ventricular function in Friedreich's ataxia. An echocardiographic study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

The heart in Friedreich's ataxia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Hypertrophic cardiomyopathy: The heart disease of Friedreich's ataxia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728941

Hemodynamic findings in Friedreich's ataxia

12 July 2018

1 reference

12 December 2020

Cardiomyopathy in Friedreich's ataxia: a Doppler-echocardiographic study

1 reference

12 December 2020

Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients

1 reference

12 December 2020

Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich's ataxia

1 reference

12 December 2020

Progression of hypertrophic into a dilated left ventricle in Friedreich's ataxia

1 reference

12 December 2020

Morphologic and functional characteristics of the heart in Friedreich's ataxia

1 reference

12 December 2020

Five-year follow-up of Friedreich's ataxia cardiomyopathy

1 reference

12 December 2020

The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases

1 reference

12 December 2020

Characteristics of the cardiac hypertrophy in Friedreich's ataxia

1 reference

12 December 2020

Case report: echocardiographic observations in patients with Friedreich's ataxia

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

Prevalence of hypertrophic cardiomyopathy and limitations of screening methods

1 reference

12 December 2020

Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations

1 reference

12 December 2020

Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia

1 reference

12 December 2020

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

12 December 2020

Identifiers

PMCID

1728941

1 reference

8 August 2017

1 reference