Masseter Muscle Rigidity Associated with Glycine1306-to- Alanine Mutation in the Adult Muscle Sodium Channel α-Subunit Gene

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support

1989 • 747 citations

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

1993 • 349 citations

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).

1994 • 219 citations

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1992 • 219 citations

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker.

1993 • 202 citations

Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene.

1994 • 155 citations

Myotonia Fluctuans

1994 • 143 citations

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

1992 • 137 citations

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

1991 • 115 citations

ARE MYOTONIAS AND PERIODIC PARALYSES ASSOCIATED WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA?

1990 • 93 citations

Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel Diseases

1993 • 91 citations

Masseter Muscle Rigidity and Malignant Hyperthermia Susceptibility in Pediatric Patients An Update on Management and Diagnosis

1994 • 85 citations

Masseter Muscle Spasm in Children

1991 • 83 citations

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

1992 • 75 citations

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion

1994 • 67 citations

Prediction of Malignant Hyperthermia Susceptibility by Clinical Signs

1987 • 66 citations

Genomic Organization of the Human Skeletal Muscle Sodium Channel Gene

1993 • 59 citations

Genomic Organization and Chromosomal Assignment of the Human Voltage-Gated Na+ Channel β1 Subunit Gene (SCN1B)

1994 • 58 citations

Assignment of a human skeletal muscle sodium channel α-subunit gene (SCN4A) to 17q23.1–25.3

1991 • 57 citations

Schwartz–Jampel syndrome: II. Na⁺ channel defect causes myotonia

1990 • 57 citations

Masseter muscle rigidity and malignant hyperthermia susceptibility.

1986 • 56 citations

Malignant hyperthermia in myotonia congenita

1988 • 52 citations

Adult muscle sodium channel α-subunit is a gene candidate for malignant hyperthermia susceptibility

1992 • 45 citations

In Vitro Interaction between Halothane and Succinylcholine in Human Skeletal Muscle

1985 • 41 citations

Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle

1992 • 38 citations

High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families

1992 • 28 citations

Caffeine and Halothane Contracture Testing in Swine Using the Recommendations of the North American Malignant Hyperthermia Group

1990 • 25 citations

Linkage Mapping of the Human Thromboxane A2 Receptor (TBXA2R) to Chromosome 19p13.3 Using Transcribed 3′ Untranslated DNA Sequence Polymorphisms

1993 • 17 citations

CURRENT LABORATORY METHODS FOR THE DIAGNOSIS OF MALIGNANT HYPERTHERMIA SUSCEPTIBILITY

1994 • 6 citations