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

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

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

1992 • 497 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

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

1993 • 361 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

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

1992 • 280 citations

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

1993 • 202 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

The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy)

1975 • 171 citations

HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES<subtitle>A Clinical and Electrophysiological Study of Four Families<xref ref-type="fn" rid="fn1"><sup>1</sup></xref></subtitle>

1964 • 159 citations

Hereditary neuropathy with liability to pressure palsies

1982 • 94 citations

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

1992 • 89 citations

RECURRENT BRACHIAL PLEXUS NEUROPATHY

1975 • 88 citations

Penetrance of the hereditary motor and sensory neuropathy la mutation

1991 • 74 citations

RECURRENT PERIPHERAL-NERVE PALSIES IN A FAMILY

1954 • 65 citations

HEREDOFAMILIAL MONONEURITIS MULTIPLEX WITH BRACHIAL PREDILECTION

1960 • 63 citations

Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin

1992 • 31 citations

A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease

1990 • 12 citations

Charcot‐Marie‐Tooth neuropathy type 1A mutation: Apparent crossovers with D17S122 are due to a duplication

1992 • 12 citations

Peripherin and the vision thing

1993 • 8 citations

Deleted Work

1955 • 0 citations