A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

1981 • 18,584 citations

Laser desorption ionization of proteins with molecular masses exceeding 10,000 daltons

1988 • 5,560 citations

High-efficiency transformation of mammalian cells by plasmid DNA.

1987 • 5,377 citations

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

1987 • 730 citations

Toward a structural basis for the function of nicotinic acetylcholine receptors and their cousins

1995 • 614 citations

Diversity of nicotinic acetylcholine receptors in rat hippocampal neurons. I. Pharmacological and functional evidence for distinct structural subtypes.

1993 • 543 citations

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

1993 • 540 citations

Matrix‐assisted laser desorption time‐of‐flight mass spectrometry of oligonucleotides using 3‐hydroxypicolinic acid as an ultraviolet‐sensitive matrix

1993 • 284 citations

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

1990 • 272 citations

Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers.

1993 • 239 citations

Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel

1997 • 221 citations

A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse

1994 • 191 citations

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

1990 • 165 citations

Structure and function of inhibitory glycine receptors

1992 • 162 citations

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α₁ subunit of the inhibitory glycine receptor

1994 • 141 citations

Structural analysis of mouse glycine receptor alpha subunit genes. Identification and chromosomal localization of a novel variant.

1994 • 136 citations

Molecular composition of GABAC receptors

1998 • 131 citations

Mutational analysis of familial and sporadic hyperekplexia

1995 • 126 citations

Mapping of antigenic epitopes on the .alpha.1 subunit of the inhibitory glycine receptor

1991 • 117 citations

NovelGLRA1Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating

1999 • 107 citations

The Human Glycine Receptor Subunit α3

1998 • 104 citations

MALDI-TOF-MS Analysis of Protein and DNA

2001 • 93 citations

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

1996 • 83 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

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

1996 • 75 citations

The frameshift mutation oscillator (Glra1spd-ot) produces a complete loss of glycine receptor α1-polypeptide in mouse central nervous system

1997 • 74 citations

The Startle Disease Mutation Q266H, in the Second Transmembrane Domain of the Human Glycine Receptor, Impairs Channel Gating

1999 • 50 citations

Review : Glycine Receptors: Molecular Heterogeneity and Implications for Disease

1995 • 47 citations

Coupled Proteolytic and Mass Spectrometry Studies Indicate a Novel Topology for the Glycine Receptor

2000 • 47 citations

Opposing Effects of Molecular Volume and Charge at the Hyperekplexia Site α1(P250) Govern Glycine Receptor Activation and Desensitization

2001 • 45 citations

The Inhibitory Glycine Receptor: Prospects for a Therapeutic Orphan?

1998 • 41 citations

Organisation of the murine 5‐HT₃ receptor gene and assignment tohuman chromosome 11

1994 • 36 citations

Amino acid neurotransmission

1998 • 35 citations

Heritable Mutations in the Glycine, GABAA/ and Nicotinic Acetylcholine Receptors Provide New Insights into The Ligand-Gated Ion Channel Receptor Superfamily

1998 • 29 citations

The Inhibitory Glycine Receptor

1994 • 29 citations

Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region

2000 • 23 citations

An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene

1994 • 23 citations

Localization of the Glycine Receptor α1 Subunit Gene (GLRA1) to Chromosome 5q32 by FISH

1994 • 15 citations

The inhibitory glycine receptor as a model of hereditary channelopathies

2000 • 10 citations