Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

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

1991 • 1,293 citations

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

1993 • 1,055 citations

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

1991 • 587 citations

Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin

1985 • 538 citations

Peripheral Neuropathy

1994 • 471 citations

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

1992 • 422 citations

Suggestions for “safe” residue substitutions in site-directed mutagenesis

1991 • 382 citations

Detecting single base substitutions as heteroduplex polymorphisms

1992 • 365 citations

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1993 • 361 citations

Hereditary motor and sensory neuropathies.

1991 • 348 citations

Role of myelin Po protein as a homophilic adhesion molecule

1990 • 344 citations

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

1993 • 325 citations

The rapid detection of unknown mutations in nucleic acids

1993 • 320 citations

Protein zero of peripheral nerve myelin: Biosynthesis, membrane insertion, and evidence for homotypic interaction

1990 • 276 citations

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

1993 • 250 citations

Unwrapping the genes of myelin

1988 • 246 citations

Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

1982 • 220 citations

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

1993 • 202 citations

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

1993 • 191 citations

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B

1993 • 186 citations

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q

1993 • 177 citations

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

1994 • 175 citations

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

1994 • 162 citations

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1993 • 154 citations

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

1994 • 123 citations

The molecular genetics of myelination: An update

1993 • 116 citations

Rapid and efficient resolution of parentage by amplification of short tandem repeats.

1994 • 114 citations

Uniform slowing of conduction velocities in Charcot‐Marie‐Tooth polyneuropathy type 1

1993 • 107 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

Mendelian Inheritance in Man

1993 • 94 citations

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

1993 • 92 citations

Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

1990 • 91 citations

Inherited Primary Peripheral Neuropathies

1993 • 83 citations

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

1993 • 80 citations

Structure and Chromosomal Localization of the Gene Encoding the Human Myelin Protein Zero (MPZ)

1993 • 76 citations

Genetic linkage evidence for heterogeneity in Charcot‐Marie‐Tooth neuropathy (HMSN type I)

1983 • 76 citations

Screening of dominantly inherited Charcot–Marie–Tooth neuropathies

1993 • 62 citations

Identification of a de novo insertional mutation in P_o in a patient with a Déjérine - Sottas syndrome (DSS) phenotype

1994 • 48 citations

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

1993 • 44 citations

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

1994 • 32 citations

Molecular Genetics of Charcot-Marie-Tooth Neuropathy

1994 • 31 citations