Mutation Detection in the and Alleles of the Sodium Channel

Basic local alignment search tool

1990 • 87,358 citations

Ionic channels of excitable membranes

1985 • 7,199 citations

Ionic Channels of Excitable Membranes

1985 • 3,014 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

Exon Recognition in Vertebrate Splicing

1995 • 1,067 citations

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

1988 • 883 citations

Cellular and molecular biology of voltage-gated sodium channels

1992 • 837 citations

A compensatory base change in U1 snRNA suppresses a 5′ splice site mutation

1986 • 755 citations

Biochemical Mechanisms of Constitutive and Regulated Pre-mRNA Splicing

1991 • 708 citations

Mobile genetic elements

1997 • 630 citations

Mobile Genetic Elements

1984 • 574 citations

Molecular analysis of the para locus, a sodium channel gene in Drosophila

1989 • 501 citations

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1991 • 491 citations

Isolation of an Active Human Transposable Element

1991 • 433 citations

Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

1986 • 389 citations

A U1 snRNA:pre-mRNA base pairing interaction is required early in yeast spliceosome assembly but does not uniquely define the 5′ cleavage site.

1988 • 364 citations

A Novel Spliceosome Containing U11, U12, and U5 snRNPs Excises a Minor Class (AT–AC) Intron In Vitro

1996 • 329 citations

A reappraisal of non-consensus mRNA splice sites

1991 • 324 citations

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

1995 • 313 citations

5' splice site selection in yeast: genetic alterations in base-pairing with U1 reveal additional requirements.

1988 • 307 citations

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1994 • 293 citations

Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites

1992 • 268 citations

Conserved Sequences in a Class of Rare Eukaryotic Nuclear Introns with Non-consensus Splice Sites

1994 • 233 citations

A novel, abundant sodium channel expressed in neurons and glia

1995 • 230 citations

Requirement of U12 snRNA for in Vivo Splicing of a Minor Class of Eukaryotic Nuclear Pre-mRNA Introns

1996 • 230 citations

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

1994 • 226 citations

Glycine receptor β–subunit gene mutation in spastic mouse associated with LINE–1 element insertion

1994 • 208 citations

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.

1993 • 197 citations

The spastic mouse: Aberrant splicing of glycine receptor β subunit mRNA caused by intronic insertion of Ll element

1994 • 185 citations

Mammalian U2 snRNP has a sequence-specific RNA-binding activity.

1989 • 98 citations

Electrophysiological studies of neuromuscular transmission in hereditary ‘motor end‐plate disease’ of the mouse

1971 • 94 citations

Genomic Organization of the Human Skeletal Muscle Sodium Channel Gene

1993 • 59 citations

The length of the downstream exon and the substitution of specific sequences affect pre-mRNA splicing in vitro.

1988 • 56 citations

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

1995 • 54 citations

A comparative study of “denervation” in muscles from mice with inherited progressive neuromuscular disorders

1974 • 49 citations

The genomic structure of the human skeletal muscle sodium channel gene

1992 • 48 citations

INHERITED MUSCLE AND NERVE DISEASES IN MICE: A TABULATION WITH COMMENTARY *

1979 • 48 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

Neuromuscular transmission in the murine mutants “motor end-plate disease” and “jolting”

1986 • 29 citations

Physiological and biochemical studies on the cerebellar cortex of the murine mutants “jolting” and “motor end-plate disease”

1992 • 26 citations

A comparative electrophysiological study of motor end‐plate diseased skeletal muscle in the mouse.

1980 • 24 citations

The Neuronal Voltage-Gated Sodium Channel, Scn8a, Is Essential for Postnatal Maturation of Spinal, but Not Oculomotor, Motor Units

1996 • 16 citations

Regeneration and differentiation of minced anterior tibial muscle explants from mice with MED myopathy.

1977 • 11 citations