Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

‘Touchdown’ PCR to circumvent spurious priming during gene amplification

1991 • 2,630 citations

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

1991 • 1,293 citations

Exon Recognition in Vertebrate Splicing

1995 • 1,067 citations

Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

1993 • 1,055 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA.

1991 • 780 citations

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

1992 • 422 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

Hereditary motor and sensory neuropathies.

1991 • 348 citations

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

1993 • 325 citations

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

1994 • 313 citations

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

1992 • 295 citations

Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

1993 • 250 citations

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES. ELECTROPHYSIOLOGICAL AND HISTOPATHOLOGICAL ASPECTS

1972 • 241 citations

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

1994 • 217 citations

De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

1993 • 202 citations

Mutations in the connexin 32 gene in X-linked dominant Charcot- Marie - Tooth disease (CMTX1)

1994 • 175 citations

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

1993 • 153 citations

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

1995 • 141 citations

Precision and orderliness in splicing

1987 • 104 citations

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

1994 • 98 citations

Linkage and mutation analysis of Charcot‐Marie‐Tooth neuropathy type 2 families with chromosomes 1p35‐p36 and Xq13

1996 • 81 citations

Mutation of the Myelin Po Gene in Charcot-Marie-Tooth Neuropathy Type 1

1993 • 80 citations

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

1995 • 57 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

New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.

1993 • 44 citations

X-linked dominant Charcot — Marie — Tooth neuropathy: valine-38-methionine substitution of connexin32

1994 • 42 citations

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

1994 • 37 citations

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

1995 • 37 citations

Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations

1997 • 33 citations

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

1994 • 32 citations

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

1996 • 26 citations

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

1996 • 16 citations