(Q51671730)

9 April 2018

title

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. (English)

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9 April 2018

main subject

mitochondrial transfer

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8

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9 April 2018

Salvatore DiMauro

13

Salvatore DiMauro

1 reference

PubMed ID

12767666

9 April 2018

Robert William Taylor

1

Robert W Taylor

1 reference

9 April 2018

Filippo Maria Santorelli

10

Filippo M Santorelli

1 reference

9 April 2018

Douglass Matthew Turnbull

14

Douglass M Turnbull

1 reference

9 April 2018

Robert N Lightowlers

12

Robert N Lightowlers

1 reference

9 April 2018

Michio Hirano

11

Michio Hirano

1 reference

9 April 2018

Carla Giordano

2

Carla Giordano

1 reference

9 April 2018

Mercy M Davidson

3

Mercy M Davidson

1 reference

9 April 2018

author name string

Giulia d'Amati

4

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9 April 2018

Hugh Bain

5

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9 April 2018

Christine M Hayes

6

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9 April 2018

Helen Leonard

7

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9 April 2018

Carlo Casali

9

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9 April 2018

language of work or name

English

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publication date

1 May 2003

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9 April 2018

Journal of the American College of Cardiology

published in

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9 April 2018

volume

41

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9 April 2018

issue

10

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9 April 2018

page(s)

1786-1796

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9 April 2018

Mitochondrial DNA and disease

cites work

1 reference

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Mitochondrial DNA mutations and pathogenesis

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7 January 2021

The epidemiology of pathogenic mitochondrial DNA mutations

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7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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7 January 2021

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

1 reference

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7 January 2021

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

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7 January 2021

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

1 reference

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7 January 2021

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

1 reference

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7 January 2021

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2803%2900300-0

7 January 2021

The emerging concept of mitochondrial cardiomyopathies

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7 January 2021

Mitochondria and the heart

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7 January 2021

A novel mtDNA point mutation in maternally inherited cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2803%2900300-0

7 January 2021

Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2803%2900300-0

7 January 2021

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

1 reference

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7 January 2021

Analysis of dystrophin expression after activation of myogenesis in amniocytes, chorionic-villus cells, and fibroblasts. A new method for diagnosing Duchenne's muscular dystrophy.

1 reference

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7 January 2021

Cytochromec oxidase activity in single muscle fibers: Assay techniques and diagnostic applications

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7 January 2021

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

1 reference

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7 January 2021

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

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7 January 2021

Analysis of European mtDNAs for recombination

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7 January 2021

Mitochondrial mutation in fatal infantile cardiomyopathy

1 reference

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7 January 2021

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2803%2900300-0

7 January 2021

An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

1 reference

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7 January 2021

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

1 reference

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7 January 2021

Differential expression of natriuretic peptides and their receptors in volume overload cardiac hypertrophy in the rat.

1 reference

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7 January 2021

Differential regulation of right and left ventricular levels of atrial natriuretic factor mRNA and peptide

1 reference

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7 January 2021

Differential expression of thyrotropin receptor mRNA in the porcine heart

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2803%2900300-0

7 January 2021

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2803%2900300-0

7 January 2021

10.1016/S0735-1097(03)00300-0

Identifiers

DOI

1 reference

9 April 2018

PubMed ID

12767666

1 reference

9 April 2018