Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

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

1991 • 1,293 citations

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.

1967 • 1,002 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

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

1992 • 713 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

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

1992 • 454 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

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

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1991 • 382 citations

Detecting single base substitutions as heteroduplex polymorphisms

1992 • 365 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

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

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

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

1992 • 89 citations

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

1992 • 63 citations

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

1992 • 49 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

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

1993 • 33 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

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

1992 • 24 citations

Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

1993 • 10 citations