Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

(2008) Fanny Mochel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

(2008) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

(2008) Itai Berger et al.   ANNALS OF NEUROLOGY

The G13513A Mutation in the ND5 Gene of Mitochondrial DNA as a Common Cause of MELAS or Leigh Syndrome

(2008) Sara Shanske et al.   ARCHIVES OF NEUROLOGY

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia

(2008) Ian M Morison et al.   NATURE GENETICS