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

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

2000 • 1,370 citations

A conserved tripeptide sorts proteins to peroxisomes.

1989 • 1,113 citations

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

1996 • 733 citations

Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

2000 • 369 citations

Transfer of Carbon Atoms from Mevalonate to n-Fatty Acids

1974 • 160 citations

One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews [see comments]

1995 • 150 citations

Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups

2000 • 145 citations

Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.

1995 • 121 citations

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia

1989 • 80 citations

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

1992 • 63 citations

Multiple syndromes of 3-methylglutaconic aciduria

1993 • 63 citations

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

1992 • 52 citations

3-Methylglutaconic Acidemia in Smith-Lemli-Opitz Syndrome

1995 • 40 citations

3‐Methylglutaconic aciduria in “optic atrophy plus”

1993 • 40 citations

3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes.

1994 • 36 citations

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

1993 • 34 citations

3‐METHYLGLUTACONIC ACIDURIA IN THE IRAQI‐JEWISH “OPTIC ATROPHY PLUS‘ (COSTEFF) SYNDROME

1994 • 33 citations

Molecular Basis of Mendelian Disorders among Jews

2000 • 33 citations

Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene

1997 • 32 citations

Mitochondrial complex deficiencies in a male with cardiomyopathy and 3‐methylglutaconic aciduria

1995 • 18 citations

Mitochondrial DNA Depletion Associated With Partial Complex II and IV Deficiencies and 3-Methylglutaconic Aciduria

2001 • 17 citations

Ineffectiveness of oral coenzyme Q10 supplementation in 3-methylglutaconic aciduria, type 3

1998 • 5 citations