caffeine has been researched along with Myopathies, Nemaline in 7 studies
Myopathies, Nemaline: A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
| 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 | 5 (71.43) | 18.2507 |
| 2000's | 2 (28.57) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Brini, M | 1 |
| Manni, S | 1 |
| Pierobon, N | 1 |
| Du, GG | 1 |
| Sharma, P | 1 |
| MacLennan, DH | 5 |
| Carafoli, E | 1 |
| Fagerlund, TH | 1 |
| Islander, G | 1 |
| Ranklev-Twetman, E | 1 |
| Berg, K | 1 |
| Tong, J | 3 |
| Oyamada, H | 1 |
| Demaurex, N | 1 |
| Grinstein, S | 1 |
| McCarthy, TV | 3 |
| Barone, V | 1 |
| Massa, O | 1 |
| Intravaia, E | 1 |
| Bracco, A | 1 |
| Di Martino, A | 1 |
| Tegazzin, V | 1 |
| Cozzolino, S | 1 |
| Sorrentino, V | 1 |
| Lynch, PJ | 1 |
| Lehane, M | 1 |
| Mallet, A | 1 |
| Giblin, L | 1 |
| Heffron, JJ | 1 |
| Vaughan, P | 1 |
| Zafra, G | 1 |
| Monnier, N | 1 |
| Romero, NB | 1 |
| Lerale, J | 1 |
| Nivoche, Y | 1 |
| Qi, D | 1 |
| Fardeau, M | 1 |
| Lunardi, J | 1 |
7 other studies available for caffeine and Myopathies, Nemaline
| Article | Year |
|---|---|
Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations.
Topics: Aequorin; Animals; Animals, Newborn; Blotting, Western; Caffeine; Calcium; Cell Line; Cytosol; Endop | 2005 |
Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.
Topics: Alleles; Caffeine; Calcium Channels; Child, Preschool; Chromosomes, Human, Pair 19; Female; Genetic | 1996 |
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease.
Topics: Animals; Caffeine; Calcium; Cell Line; DNA, Complementary; Halothane; Humans; Malignant Hyperthermia | 1997 |
Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.
Topics: Animals; Caffeine; Calcium; Calcium Channels; Calcium-Transporting ATPases; Carbachol; Cell Line; Cy | 1999 |
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.
Topics: Caffeine; DNA Primers; Female; Halothane; Humans; Italy; Male; Malignant Hyperthermia; Muscles; Myop | 1999 |
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Caffeine; Calcium; Cell Line; Chromosome Mapp | 1999 |
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 |