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.

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

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1991 • 587 citations

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

1992 • 422 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

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

1992 • 383 citations

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1993 • 325 citations

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

1992 • 317 citations

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

1994 • 313 citations

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1992 • 280 citations

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 • 217 citations

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1993 • 126 citations

Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B

1993 • 92 citations

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

1991 • 69 citations

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

1995 • 61 citations

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

1994 • 49 citations

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

1995 • 46 citations

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

1992 • 40 citations

The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3 – q23

1993 • 34 citations

A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?

1996 • 32 citations

Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis.

1995 • 27 citations

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases

1995 • 19 citations