Barth syndrome: TAZ gene mutations, mRNAs, and evolution

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

Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

2000 • 369 citations

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

2004 • 273 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

Remodeling of Cardiolipin by Phospholipid Transacylation

2003 • 203 citations

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

1991 • 144 citations

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

2003 • 132 citations

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

2002 • 100 citations

Mitochondria and Muscular Diseases

1982 • 69 citations

A novel intronic mutation of the TAZ ( G4.5 ) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

2001 • 20 citations