(Q34260666)

1 August 2017

title

Barth syndrome in a female patient (English)

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1 August 2017

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10

Cédric Le Caignec

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Gabor Matyas

object named as

Gabor Matyas

5

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Annick Toutain

2

object named as

Annick Toutain

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1 August 2017

Laure Cosson

1

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1 August 2017

Gilles Simard

3

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1 August 2017

Willem Kulik

4

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1 August 2017

Agnès Guichet

6

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1 August 2017

Hélène Blasco

7

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1 August 2017

Zoha Maakaroun-Vermesse

8

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1 August 2017

Marie-Catherine Vaillant

9

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1 August 2017

Alain Chantepie

11

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1 August 2017

François Labarthe

12

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1 August 2017

publication date

24 January 2012

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Molecular Genetics and Metabolism

1 August 2017

published in

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1 August 2017

volume

106

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1 August 2017

issue

1

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1 August 2017

page(s)

115-120

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An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Cardiac and clinical phenotype in Barth syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

The enzymatic function of tafazzin

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

The enigmatic role of tafazzin in cardiolipin metabolism

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Role of cardiolipin alterations in mitochondrial dysfunction and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Molecular biology and pathogenesis of viral myocarditis

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Isolated noncompaction of left ventricular myocardium. A study of eight cases

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Mutation characterization and genotype-phenotype correlation in Barth syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

X chromosome inactivation in carriers of Barth syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.01.015

10.1016/J.YMGME.2012.01.015

7 January 2021

Identifiers

DOI

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1 August 2017

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