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

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

1992 • 1,468 citations

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

1991 • 1,293 citations

DNA typing and genetic mapping with trimeric and tetrameric tandem repeats.

1991 • 1,170 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

Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular Atrophy

1968 • 560 citations

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

1992 • 497 citations

Mendelian inheritance in man

1993 • 430 citations

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

1992 • 422 citations

Trembler mouse carries a point mutation in a myelin gene

1992 • 418 citations

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

1992 • 398 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

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

1991 • 382 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

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

1992 • 295 citations

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.

1992 • 286 citations

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

1992 • 280 citations

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

1993 • 191 citations

The Peroneal Type of Progressive Muscular Atrophy

1888 • 189 citations

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

1990 • 167 citations

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

1993 • 154 citations

Nerve conduction studies in Charcot‐Marie‐Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1993 • 114 citations

Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy.

1966 • 105 citations

Peripheral Neuropathy

1967 • 97 citations

Trisomy 17p associated with Charcot‐Marie‐Tooth neuropathy type 1A phenotype

1992 • 89 citations

Severe hypomyelination and marked abnormality of conduction in Dejerine-Sottas hypertrophic neuropathy: myelin thickness and compound action potential of sural nerve in vitro.

1971 • 55 citations

Homozygous expression of a dominant gene for charcot-marie-tooth neuropathy

1979 • 51 citations

Molecular Genetics and Neuropathology of Charcot‐Marie‐Tooth Disease Type 1A

1992 • 49 citations

Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2?12

1993 • 46 citations

The man behind the syndrome

1986 • 46 citations

Segmental demyelinization in Dejerine-Sottas disease: light, phase-contrast, and electron microscopic studies.

1968 • 34 citations

Allelic heterogeneity in hereditary motor and sensory neuropathy type la (Charcot‐Marie‐Tooth disease type 1a)

1993 • 32 citations