Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

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

1991 • 1,293 citations

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

1991 • 587 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

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

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

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

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

1993 • 250 citations

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

1993 • 191 citations

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

1994 • 162 citations

De-novo mutation in hereditary motor and sensory neuropathy type I

1992 • 160 citations

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

1993 • 154 citations

Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system

1993 • 122 citations

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

1993 • 114 citations

Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1

1989 • 109 citations

Charcot‐Marie‐Tooth disease

1963 • 103 citations

Inherited Primary Peripheral Neuropathies

1993 • 83 citations

Evolution of nerve conduction abnormalities in children with dominant hypertrophic neuropathy of the charcot‐marie‐tooth type

1983 • 60 citations

Peroneal atrophies and related disorders

1979 • 51 citations

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

1979 • 51 citations

Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1

1989 • 40 citations

Haptoglobin and Transferrin Types in Southern Brazilian Indians

1963 • 29 citations

Peripheral Neuropathies

2006 • 11 citations