Immunological approaches to the characterization and diagnosis of mitochondrial disease

Mitochondrial Diseases in Man and Mouse

1999 • 3,008 citations

Mitochondrial threshold effects

2003 • 750 citations

Mitochondrial disorders

2003 • 543 citations

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

1998 • 512 citations

Chapter 5 Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues

2001 • 363 citations

An Evaluation of the Measurement of the Activities of Complexes I-IV in the Respiratory Chain of Human Skeletal Muscle Mitochondria

1994 • 275 citations

Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

2000 • 196 citations

Mitochondrial genetics and disease

2000 • 169 citations

Mitochondrial proteome: Altered cytochrome c oxidase subunit levels in prostate cancer

2003 • 153 citations

Cytochrome c Oxidase Subassemblies in Fibroblast Cultures from Patients Carrying Mutations in COX10, SCO1, or SURF1

2004 • 133 citations

Threshold Effects in Synaptosomal and Nonsynaptic Mitochondria from Hippocampal CA1 and Paramedian Neocortex Brain Regions

1997 • 119 citations

The Subunit Composition of the Human NADH Dehydrogenase Obtained by Rapid One-step Immunopurification

2003 • 109 citations

Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho0 human fibroblasts: a comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mtDNA depletion syndrome

1997 • 107 citations

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR

2001 • 93 citations

A Functionally Active Human F1F0 ATPase Can be Purified by Immunocapture from Heart Tissue and Fibroblast Cell Lines

2002 • 71 citations

Some practical aspects of providing a diagnostic service for respiratory chain defects

2003 • 70 citations

Human Complex I Defects Can Be Resolved by Monoclonal Antibody Analysis into Distinct Subunit Assembly Patterns

2001 • 61 citations

Medicinal and Genetic Approaches to the Treatment of Mitochondrial Disease

2003 • 55 citations

Immunocytochemical studies of cytochrome oxidase subunits in skeletal muscle of patients with partial cytochrome oxidase deficiencies

1988 • 52 citations

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients

1994 • 38 citations

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

1999 • 32 citations

An Immunocytochemical Approach to Detection of Mitochondrial Disorders

2002 • 28 citations

Immunocapture and microplate-based activity measurement of mammalian pyruvate dehydrogenase complex

2003 • 24 citations

Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome

1999 • 15 citations