halothane has been researched along with Central Core Disease in 5 studies
Excerpt | Relevance | Reference |
---|---|---|
"Central core disease (CCD) and nemaline myopathy (NM) are congenital myopathies for which differential diagnosis is often based on the presence either of cores or rods." | 1.31 | An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. ( Fardeau, M; Lerale, J; Lunardi, J; MacLennan, DH; Monnier, N; Nivoche, Y; Qi, D; Romero, NB, 2000) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 5 (100.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Robinson, RL | 1 |
Brooks, C | 1 |
Brown, SL | 1 |
Ellis, FR | 1 |
Halsall, PJ | 1 |
Quinnell, RJ | 1 |
Shaw, MA | 1 |
Hopkins, PM | 1 |
Rueffert, H | 1 |
Olthoff, D | 1 |
Deutrich, C | 1 |
Schober, R | 1 |
Froster, UG | 1 |
Brown, RL | 1 |
Pollock, AN | 1 |
Couchman, KG | 1 |
Hodges, M | 1 |
Hutchinson, DO | 1 |
Waaka, R | 1 |
Lynch, P | 1 |
McCarthy, TV | 1 |
Stowell, KM | 1 |
Monnier, N | 1 |
Romero, NB | 1 |
Lerale, J | 1 |
Nivoche, Y | 1 |
Qi, D | 1 |
MacLennan, DH | 1 |
Fardeau, M | 1 |
Lunardi, J | 1 |
Stojkovic, T | 1 |
Maurage, CA | 1 |
Moerman, A | 1 |
Hurtevent, JF | 1 |
Krivosic-Horber, R | 1 |
Pellissier, JF | 1 |
Vermersch, P | 1 |
5 other studies available for halothane and Central Core Disease
Article | Year |
---|---|
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
Topics: Anesthetics, Inhalation; Caffeine; Central Nervous System Stimulants; Exons; Female; Halothane; Huma | 2002 |
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
Topics: Adolescent; Base Sequence; Caffeine; DNA; DNA Mutational Analysis; Dysostoses; Family Health; Female | 2004 |
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
Topics: Amino Acid Sequence; Anesthetics, Inhalation; Chromosomes, Human, Pair 19; DNA Mutational Analysis; | 2000 |
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
Topics: Amino Acid Substitution; Caffeine; Calcium; Cell Line; DNA Mutational Analysis; Female; France; Gene | 2000 |
Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility.
Topics: Adult; Anesthetics, Inhalation; Biopsy; Caffeine; Central Nervous System Stimulants; Halothane; Huma | 2001 |