aspartic acid has been researched along with Charcot-Marie-Tooth Disease in 7 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.
Charcot-Marie-Tooth Disease: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
| Excerpt | Relevance | Reference |
|---|---|---|
| " The authors conclude that mutations of P0ic may undergo a gene dosage effect manifesting semidominant inheritance." | 1.33 | Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. ( Angiari, C; Cabrini, I; Cavallaro, T; Fabrizi, GM; Morini, A; Orrico, D; Pellegrini, M; Rizzuto, N; Taioli, F, 2006) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (14.29) | 18.2507 |
| 2000's | 4 (57.14) | 29.6817 |
| 2010's | 2 (28.57) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Nave, KA | 1 |
| Werner, HB | 1 |
| Yonekawa, T | 1 |
| Komaki, H | 1 |
| Saito, Y | 1 |
| Takashima, H | 1 |
| Sasaki, M | 1 |
| Numakura, C | 1 |
| Shirahata, E | 1 |
| Yamashita, S | 1 |
| Kanai, M | 1 |
| Kijima, K | 1 |
| Matsuki, T | 1 |
| Hayasaka, K | 1 |
| Karadima, G | 1 |
| Panas, M | 1 |
| Floroskufi, P | 1 |
| Kalfakis, N | 1 |
| Vassilopoulos, D | 1 |
| Fabrizi, GM | 1 |
| Pellegrini, M | 1 |
| Angiari, C | 1 |
| Cavallaro, T | 1 |
| Morini, A | 1 |
| Taioli, F | 1 |
| Cabrini, I | 1 |
| Orrico, D | 1 |
| Rizzuto, N | 1 |
| Murru, MR | 1 |
| Vannelli, A | 1 |
| Marrosu, G | 1 |
| Cocco, E | 1 |
| Corongiu, D | 1 |
| Tranquilli, S | 1 |
| Cherchi, MV | 1 |
| Mura, M | 1 |
| Barberini, L | 1 |
| Mallarini, G | 1 |
| Marrosu, MG | 1 |
| Navon, R | 1 |
| Seifried, B | 1 |
| Gal-On, NS | 1 |
| Sadeh, M | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| The Clinical Features of Combined Central and Peripheral Demyelination[NCT04664647] | 30 participants (Anticipated) | Observational | 2020-12-31 | Not yet recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 review available for aspartic acid and Charcot-Marie-Tooth Disease
| Article | Year |
|---|---|
Myelination of the nervous system: mechanisms and functions.
Topics: Adenosine Triphosphate; Animals; Aspartic Acid; Axons; Central Nervous System; Charcot-Marie-Tooth D | 2014 |
6 other studies available for aspartic acid and Charcot-Marie-Tooth Disease
| Article | Year |
|---|---|
Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.
Topics: Asparagine; Aspartic Acid; Charcot-Marie-Tooth Disease; Child, Preschool; Humans; Male; Myelin P0 Pr | 2013 |
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.
Topics: Adult; Aspartic Acid; Charcot-Marie-Tooth Disease; Connexins; DNA Mutational Analysis; DNA-Binding P | 2003 |
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
Topics: Adolescent; Adult; Aged; Aspartic Acid; Charcot-Marie-Tooth Disease; Chromosomes, Human, X; Codon, T | 2006 |
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.
Topics: Adult; Aged; Aspartic Acid; Charcot-Marie-Tooth Disease; Chromatography, High Pressure Liquid; DNA M | 2006 |
A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities.
Topics: Adolescent; Adult; Aspartic Acid; Brain Chemistry; Brain Stem; Charcot-Marie-Tooth Disease; Connexin | 2006 |
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.
Topics: Amino Acid Sequence; Arginine; Aspartic Acid; Base Sequence; Charcot-Marie-Tooth Disease; Child; Chr | 1996 |