DNA deletion associated with hereditary neuropathy with liability to pressure palsies

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1984 • 4,899 citations

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.

1986 • 3,231 citations

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

1991 • 1,293 citations

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1990 • 1,107 citations

Peripheral Neuropathy

1993 • 626 citations

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

1991 • 587 citations

Two new mutants, ‘trembler’ and ‘reeler’, with neurological actions in the house mouse (Mus musculus L.)

1951 • 517 citations

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

1992 • 497 citations

Trembler mouse carries a point mutation in a myelin gene

1992 • 418 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

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1991 • 342 citations

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

1992 • 317 citations

Intensive evaluation of referred unclassified neuropathies yields improved diagnosis

1981 • 313 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

Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis

1987 • 271 citations

A growth arrest-specific (gas) gene codes for a membrane protein.

1990 • 252 citations

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

1972 • 241 citations

Abnormal myelination in transplanted Trembler mouse Schwann cells

1977 • 231 citations

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

1982 • 220 citations

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1989 • 198 citations

Axon-regulated expression of a Schwann cell transcript that is homologous to a ‘growth arrest-specific’ gene.

1991 • 182 citations

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

1975 • 171 citations

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

1992 • 160 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

A comprehensive genetic map of murine chromosome 11 reveals extensive linkage conservation between mouse and human.

1989 • 151 citations

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

1992 • 140 citations

X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq

1985 • 117 citations

X‐linked neuropathy: Gene localization with DNA probes

1986 • 103 citations

Characterization of eight VNTR loci by agarose gel electrophoresis

1989 • 93 citations

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

1990 • 91 citations

Viral integration and fragile sites in human papillomavirus-lmmortalized human keratinocyte cell lines

1992 • 90 citations

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

1992 • 89 citations

RECURRENT BRACHIAL PLEXUS NEUROPATHY

1975 • 88 citations

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

1991 • 69 citations

A genetic map of human chromosome 17p

1990 • 68 citations

RECURRENT PERIPHERAL-NERVE PALSIES IN A FAMILY

1954 • 65 citations

Analysis of the DNA duplication 17p11.2 in Charcot‐Marie‐Tooth neuropathy type 1 pedigrees

1992 • 63 citations

Long Lives for Homozygous Trembler Mutant Mice Despite Virtual Absence of Peripheral Nerve Myelin

1988 • 62 citations

Hereditary compression syndrome of peripheral nerves

1965 • 40 citations

Hereditary pressure-sensitive neuropathy

1980 • 35 citations

Status of the linkage map of the mouse

1978 • 34 citations

Clinical conundrums in fragile X syndrome

1992 • 26 citations

Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.

1992 • 21 citations

Hereditary Neuropathy With Liability to Pressure Palsies

2001 • 8 citations

Deleted Work

1955 • 0 citations