Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

Basic local alignment search tool

1990 • 87,358 citations

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

1995 • 1,686 citations

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

1993 • 1,395 citations

Cellular and molecular biology of voltage-gated sodium channels

1992 • 837 citations

Calcium channel characteristics conferred on the sodium channel by single mutations

1992 • 776 citations

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1994 • 762 citations

Catalog Of Mutant Genes And Polymorphic Loci

1996 • 404 citations

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

1994 • 276 citations

Preparation and screening of an arrayed human genomic library generated with the P1 cloning system.

1994 • 130 citations

Magnetic bead capture of expressed sequences encoded within large genomic segments

1993 • 90 citations

A mouse genomic library in the bacteriophage P1 cloning system: organization and characterization

1992 • 84 citations

Hereditary motor end-plate disease in the mouse: light and electron microscopic studies.

1970 • 79 citations

Structure, function and expression of voltage-dependent sodium channels

1993 • 70 citations

Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15

1995 • 54 citations

Analysis of the dopamine receptor family in the compact genome of the puffer fish Fugu rubripes

1995 • 53 citations

Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23–q24.1

1995 • 44 citations

A transcription map of the region containing the Huntington disease gene

1993 • 40 citations

Electrophysiological and morphological studies of a motor nerve in ‘motor endplate disease’ of the mouse

1982 • 33 citations

A CEREBELLAR ABNORMALITY IN THE MOUSE WITH MOTOR END‐PLATE DISEASE

1985 • 31 citations

Mapping of the gene for interferon‐inducible dsRNA‐dependent protein kinase to chromosome region 2p21‐22: A site of rearrangements in myeloproliferative disorders

1993 • 17 citations

A salivary amylase transgene is efficiently expressed in liver but not in parotid gland of transgenic mice

1989 • 12 citations

Hereditary motor endplate disease (med) of the mouse: Observations on dissociated myogenic cells and their development in culture

1980 • 5 citations