X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update

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

1990 • 1,394 citations

Efficacy of Implantable Cardioverter–Defibrillators for the Prevention of Sudden Death in Patients with Hypertrophic Cardiomyopathy

2000 • 1,030 citations

Cytochrome c release from mitochondria proceeds by a two-step process

2002 • 917 citations

The biosynthesis and functional role of cardiolipin

2000 • 786 citations

A novel X-linked gene, G4.5. is responsible for Barth syndrome

1996 • 733 citations

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

1983 • 662 citations

Gluing the Respiratory Chain Together

2002 • 615 citations

Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome

2001 • 554 citations

The failing heart

2002 • 539 citations

Visual-acuity development in healthy preterm infants: effect of marine-oil supplementation

1993 • 520 citations

Glycerophospholipids in brain: their metabolism, incorporation into membranes, functions, and involvement in neurological disorders

2000 • 494 citations

Cardiolipin provides specificity for targeting of tBid to mitochondria

2000 • 462 citations

Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

2000 • 369 citations

Reactive oxygen species affect mitochondrial electron transport complex I activity through oxidative cardiolipin damage

2002 • 353 citations

Fatty Acid Composition of Human Brain Phospholipids During Normal Development

1998 • 350 citations

Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals

1997 • 300 citations

Neonatal, Lethal Noncompaction of the Left Ventricular Myocardium Is Allelic with Barth Syndrome

1997 • 298 citations

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

1991 • 270 citations

Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome

2002 • 264 citations

The effect of reactive oxygen species generated from the mitochondrial electron transport chain on the cytochrome c oxidase activity and on the cardiolipin content in bovine heart submitochondrial particles

2000 • 247 citations

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

1997 • 229 citations

Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders

1992 • 187 citations

Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

2001 • 179 citations

X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)

1999 • 168 citations

An X-Linked Recessive Cardiomyopathy with Abnormal Mitochondria

1979 • 150 citations

Phospholipase Digestion of Bound Cardiolipin Reversibly Inactivates Bovine Cytochrome bc₁

1999 • 149 citations

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

1991 • 144 citations

The pro-apoptotic Bcl-2 family member tBid localizes to mitochondrial contact sites.

2001 • 141 citations

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

1997 • 134 citations

Only One Splice Variant of the Human TAZ Gene Encodes a Functional Protein with a Role in Cardiolipin Metabolism

2003 • 132 citations

Reactive oxygen species generated by the mitochondrial respiratory chain affect the complex III activity via cardiolipin peroxidation in beef-heart submitochondrial particles

2001 • 129 citations

Oxidative phosphorylation in cardiolipin-lacking yeast mitochondria

2000 • 126 citations

Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28

1993 • 117 citations

Quantitative and Compositional Study of Cardiolipin in Platelets by Electrospray Ionization Mass Spectrometry: Application for the Identification of Barth Syndrome Patients

2002 • 114 citations

Mitochondrial dysfunction of a cultured Chinese hamster ovary cell mutant deficient in cardiolipin.

1993 • 113 citations

Cardiolipin: biosynthesis, remodeling and trafficking in the heart and mammalian cells (Review).

1998 • 107 citations

Cardiolipin deficiency in x-linked cardioskeletal myopathy and neutropenia (barth syndrome, mim 302060): a study in cultured skin fibroblasts

2002 • 100 citations

Barth syndrome: Clinical observations and genetic linkage studies

1994 • 100 citations

X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblasts

1996 • 96 citations

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

1999 • 83 citations

Linoleic acid supplemention of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

2003 • 76 citations

Purification and Characterization of Monolysocardiolipin Acyltransferase from Pig Liver Mitochondria

2003 • 75 citations

X Chromosome Inactivation in Carriers of Barth Syndrome

1998 • 74 citations

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.

1993 • 72 citations

Mitochondrial ATP-Synthase Deficiency in a Child with 3-Methylglutaconic Aciduria

1992 • 63 citations

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

1991 • 61 citations

Heredity in primary endocardial fibroelastosis.

1975 • 59 citations

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

1995 • 58 citations

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

1992 • 57 citations

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects

1992 • 52 citations

Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism

1988 • 44 citations

Oxidative phosphorylation in cardiolipin-lacking yeast mitochondria

2000 • 36 citations

Preliminary evidence for a cognitive phenotype in Barth syndrome

2001 • 33 citations

Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid.

1994 • 33 citations

Heart transplantation for dilated cardiomyopathy.

1995 • 27 citations

Criterion for fetal primary spongiform cardiomyopathy: restrictive pathophysiology

2002 • 24 citations

Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome

1997 • 19 citations

Familial occurrence of the contracted form of endocardial fibroelastosis

1970 • 18 citations

Non‐Epstein‐Barr virus‐associated T‐cell lymphoma following cardiac transplantation for Barth syndrome

2001 • 15 citations

Two cases of endocardial fibroelastosis--possible x-linked determination.

1973 • 15 citations

Criterion for Fetal Primary Spongiform Cardiomyopathy

2002 • 6 citations

Barth-Syndrom

2000 • 1 citations