Molecular Basis of Charcot-Marie-Tooth Disease Type 1A: Gene Dosage as a Novel Mechanism for a Common Autosomal Dominant Condition

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

1991 • 1,293 citations

Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

1974 • 874 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

Human gene therapy

1992 • 559 citations

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

1992 • 497 citations

Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa

1992 • 454 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

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1992 • 417 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

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1991 • 382 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

A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

1991 • 312 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

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

1990 • 252 citations

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

1992 • 240 citations

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

1982 • 220 citations

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1992 • 219 citations

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

1989 • 198 citations

PERONEAL MUSCULAR ATROPHY (PMA) AND RELATED DISORDERS

1977 • 194 citations

The Peroneal Type of Progressive Muscular Atrophy

1888 • 189 citations

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

1992 • 173 citations

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

1992 • 160 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

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

1993 • 107 citations

Hereditary hypertrophic neuropathy in the Trembler mouse

1976 • 103 citations

Prospects for antisense nucleic acid therapy of cancer and aids

1992 • 97 citations

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

1990 • 91 citations

Hereditary motor and sensory neuropathies

1993 • 89 citations

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

1992 • 89 citations

Hereditary demyelinating neuropathy in the Trembler mouse

1975 • 76 citations

Hereditary hypertrophic neuropathy in the trembler mouse

1976 • 70 citations

Dosage effects of a Drosophila sodium channel gene on behavior and axonal excitability.

1990 • 70 citations

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

1989 • 66 citations

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

1990 • 64 citations

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

1992 • 63 citations

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

1983 • 60 citations

Charcot‐Marie‐Tooth disease: Data for genetic counseling relating age to risk

1978 • 55 citations

THE EVOLUTION OF ‘ONION BULBS’ IN THE HEREDITARY HYPERTROPHIC NEUROPATHY OF THE TREMBLER MOUSE

1977 • 51 citations

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

1990 • 51 citations

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

1990 • 50 citations

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

1992 • 49 citations

Refractory period, conduction of trains of impulses, and effect of temperature on conduction in chronic hypertrophic neuropathy.

1977 • 46 citations

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

1993 • 46 citations

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

1992 • 45 citations

Retinal genetics: a nullifying effect for rhodopsin

1992 • 41 citations

Autosomal recessive form of hereditary motor and sensory neuropathy type I

1992 • 40 citations

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

1992 • 40 citations

Status of the linkage map of the mouse

1978 • 34 citations

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

1993 • 33 citations

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.

1990 • 30 citations

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

1992 • 28 citations

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.

1992 • 28 citations

Immunohistochemical and ultrastructural classification of peripheral neuropathies with onion-bulbs.

1992 • 28 citations

Localization of a locus for Charcot-Marie-Tooth neuropathy type la (CMT1A) to chromosome 17

1990 • 27 citations

Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.

1992 • 24 citations