Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

1989 • 1,295 citations

A primary acoustic startle circuit: lesion and stimulation studies

1982 • 947 citations

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1987 • 944 citations

The strychnine-binding subunit of the glycine receptor shows homology with nicotinic acetylcholine receptors

1987 • 730 citations

Radiation Hybrid Mapping: A Somatic Cell Genetic Method for Constructing High-Resolution Maps of Mammalian Chromosomes

1990 • 630 citations

[30] Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1987 • 491 citations

Glycine receptor heterogeneity in rat spinal cord during postnatal development.

1988 • 383 citations

Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.

1990 • 272 citations

THE HYPEREKPLEXIAS AND THEIR RELATIONSHIP TO THE NORMAL STARTLE REFLEX

1991 • 223 citations

Functional expression in Xenopus oocytes of the strychnine binding 48 kd subunit of the glycine receptor.

1989 • 192 citations

STARTLE DISEASE OR HYPEREKPLEXIA FURTHER DELINEATION OF THE SYNDROME

1980 • 185 citations

Hyperexplexia

1966 • 173 citations

The inhibitory glycine receptor: A ligand‐gated chloride channel of the central nervous system

1990 • 165 citations

Alternative splicing generates two variants of the alpha 1 subunit of the inhibitory glycine receptor

1991 • 130 citations

Isoform-selective deficit of glycine receptors in the mouse mutant spastic

1992 • 125 citations

Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease

1989 • 121 citations

Effects of clonidine on habituation and sensitization of acoustic startle in normal, decerebrate and locus coeruleus lesioned rats

1977 • 117 citations

Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis

1992 • 115 citations

Physiological abnormalities in hereditary hyperekplexia

1992 • 99 citations

Effects of apomorphine and haloperidol on the acoustic startle response in rats

1976 • 94 citations

A FAMILY WITH EMOTIONALLY PRECIPITATEED “DROP SEIZURES”

1958 • 87 citations

A radiation hybrid map of 18 growth factor, growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5

1992 • 81 citations

Linkage of theleuS, emtB, andchr genes on chromosome 5 in humans and expression of human genes encoding protein synthetic components in human-Chinese hamster hybrids

1982 • 72 citations

Hyperekplexia and sudden neonatal death

1992 • 67 citations

Molecular cloning and chromosomal localization of one of the human glutamate receptor genes.

1991 • 64 citations

Selective Linkage Disruption in Human-Chinese Hamster Cell Hybrids: Deletion Mapping of the leuS, hexB, emtB, and chr Genes on Human Chromosome 5

1982 • 60 citations

Report of the committee on the genetic constitution of chromosome 5

1990 • 57 citations

Strychnine-sensitive inhibition in the medullary reticular formation: Evidence for glycine as an inhibitory transmitter

1972 • 57 citations

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

1992 • 53 citations

Electrophysiological studies with the spastic mutant mouse

1982 • 49 citations

Familial Startle Disease (Hyperexplexia)

1984 • 46 citations

Spasmodic, a mutation on chromosome 11 in the mouse

1987 • 41 citations

Assignment of LG XVI to chromosome 3 in the mouse

1980 • 37 citations

Identification of 28 DNA fragments that detect RFLPs in 13 distinct physical regions of the short arm of chromosome 5

1987 • 35 citations

Control of Bile Salt Synthesis

1972 • 26 citations

Genetic Mapping and Evaluation of Candidate Genes for Spasmodic, a Neurological Mouse Mutation with Abnormal Startle Response

1993 • 24 citations

A comparison of three methods to produce a high resolution physical map of 11 genes on the distal region of the long arm of human chromosome 5 Radiation hybrid mapping, pulsed-field gel electrophoresis and fluorescent in situ hybridization

1992 • 1 citations