The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1991 • 1,293 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1995 • 711 citations

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

1996 • 415 citations

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1992 • 385 citations

Mendelian Inheritance in Man

2006 • 383 citations

BCM Search Launcher--an integrated interface to molecular biology data base search and analysis services available on the World Wide Web.

1996 • 342 citations

Oxidative Phosphorylation Diseases

1990 • 338 citations

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1994 • 313 citations

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

1996 • 291 citations

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

1996 • 193 citations

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

1993 • 191 citations

Charcot-Marie-tooth disease: a new paradigm for the mechanism of inherited disease

1994 • 162 citations

Mapping the whole human genome by fingerprinting yeast artificial chromosomes

1992 • 161 citations

De-novo mutation in hereditary motor and sensory neuropathy type I

1992 • 160 citations

Automated DNA Sequencing and Analysis

1994 • 154 citations

COX10 codes for a protein homologous to the ORF1 product of Paracoccus denitrificans and is required for the synthesis of yeast cytochrome oxidase.

1990 • 142 citations

On the functions of the yeast COX10 and COX11 gene products.

1993 • 105 citations

Biosynthesis and functional role of haem O and haem A

1994 • 98 citations

Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.

1994 • 88 citations

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

1996 • 85 citations

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho transformants

1995 • 83 citations

Inherited Primary Peripheral Neuropathies

1993 • 83 citations

Homology requirements for unequal crossing over in humans.

1991 • 82 citations

Charcot-Marie-Tooth Disease and Related Inherited Neuropathies

1996 • 80 citations

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP

1995 • 61 citations

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

1996 • 53 citations

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

1997 • 52 citations

Physical Mapping of Chromosome 17 Cosmids by Fluorescence in Situ Hybridization and Digital Image Analysis

1994 • 33 citations

THE AMERICAN TYPE-CULTURE COLLECTION

1925 • 33 citations

Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP

1997 • 26 citations

Genomic Structure and Expression of the Human Heme A:Farnesyltransferase (COX10) Gene

1997 • 25 citations

Adapter-Based Uracil DNA Glycosylase Cloning Simplifies Shotgun Library Construction for Large-Scale Sequencing

1994 • 20 citations

PCR Based Strategies for Gap Closure in Large-scale Sequencing Projects

1994 • 16 citations

Isolation of Novel Genes from the CMT1A Duplication/HNPP Deletion Critical Region in 17p11.2–p12

1997 • 7 citations

DNA rearrangements affecting dosage sensitive genes

1996 • 4 citations