aspartic acid has been researched along with Myopathies, Nemaline in 2 studies
Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.
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 |
|---|---|---|
| "The seven patients have recessive nemaline myopathy caused by absence of alpha-skeletal muscle actin." | 1.34 | Nemaline myopathy caused by absence of alpha-skeletal muscle actin. ( Appleton, RE; Barois, A; Childs, AM; Clement, S; Dobbie, JA; Jayawant, SS; Laing, NG; Mountford, RC; Muntoni, F; Navarro, C; Nowak, KJ; Reina, C; Ricoy, JR; Romero, NB; Sewry, CA; Squier, W; Walker, KR, 2007) |
| "Nemaline myopathy has been associated with mutations in five different genes, which all encode protein components of the sarcomeric thin filaments." | 1.32 | Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). ( Darin, N; Kyllerman, M; Ohlsson, M; Oldfors, A; Tajsharghi, H, 2004) |
| 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 |
|---|---|
| Ohlsson, M | 1 |
| Tajsharghi, H | 1 |
| Darin, N | 1 |
| Kyllerman, M | 1 |
| Oldfors, A | 1 |
| Nowak, KJ | 1 |
| Sewry, CA | 1 |
| Navarro, C | 1 |
| Squier, W | 1 |
| Reina, C | 1 |
| Ricoy, JR | 1 |
| Jayawant, SS | 1 |
| Childs, AM | 1 |
| Dobbie, JA | 1 |
| Appleton, RE | 1 |
| Mountford, RC | 1 |
| Walker, KR | 1 |
| Clement, S | 1 |
| Barois, A | 1 |
| Muntoni, F | 1 |
| Romero, NB | 1 |
| Laing, NG | 1 |
2 other studies available for aspartic acid and Myopathies, Nemaline
| Article | Year |
|---|---|
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
Topics: Actins; Aspartic Acid; DNA Mutational Analysis; Exons; Female; Follow-Up Studies; Genetic Carrier Sc | 2004 |
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
Topics: Actins; Arginine; Aspartic Acid; Blotting, Western; Child, Preschool; Homozygote; Humans; Immunohist | 2007 |