serine has been researched along with Autosomal Dominant Myotubular Myopathy in 2 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Centronuclear myopathy is a genetically heterogeneous congenital myopathy." | 1.34 | Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. ( Bitoun, M; Bönnemann, C; Buj-Bello, A; Guicheney, P; Jungbluth, H; Muntoni, F; Robb, S; Sewry, CA; Treves, S; Zhou, H, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Laing, NG | 1 |
| Clarke, NF | 1 |
| Dye, DE | 1 |
| Liyanage, K | 1 |
| Walker, KR | 1 |
| Kobayashi, Y | 1 |
| Shimakawa, S | 1 |
| Hagiwara, T | 1 |
| Ouvrier, R | 1 |
| Sparrow, JC | 1 |
| Nishino, I | 1 |
| North, KN | 1 |
| Nonaka, I | 1 |
| Jungbluth, H | 1 |
| Zhou, H | 1 |
| Sewry, CA | 1 |
| Robb, S | 1 |
| Treves, S | 1 |
| Bitoun, M | 1 |
| Guicheney, P | 1 |
| Buj-Bello, A | 1 |
| Bönnemann, C | 1 |
| Muntoni, F | 1 |
2 other studies available for serine and Autosomal Dominant Myotubular Myopathy
| Article | Year |
|---|---|
Actin mutations are one cause of congenital fibre type disproportion.
Topics: Actins; Adenosine Triphosphatases; Aspartic Acid; Biopsy; Child, Preschool; DNA Mutational Analysis; | 2004 |
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Topics: Adolescent; Calcium; Cresols; DNA Mutational Analysis; Dose-Response Relationship, Drug; Female; Gen | 2007 |