Page last updated: 2024-11-08

alanine and Charcot-Marie-Tooth Disease

alanine has been researched along with Charcot-Marie-Tooth Disease in 5 studies

Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.

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)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (40.00)29.6817
2010's2 (40.00)24.3611
2020's1 (20.00)2.80

Authors

AuthorsStudies
Grosse, GM1
Bauer, C1
Kopp, B1
Schrader, C1
Osmanovic, A1
Nadol, JB1
Hedley-Whyte, ET1
Amr, SS1
O Apos Malley, JT1
Kamakura, T1
Baker, SK1
Reith, CC1
Ainsworth, PJ1
Luigetti, M1
Fabrizi, GM1
Taioli, F1
Conte, A1
Del Grande, A1
Sabatelli, M1
Kochanski, A1
Drac, H1
KabziƄska, D1
Hausmanowa-Petrusewicz, I1

Other Studies

5 other studies available for alanine and Charcot-Marie-Tooth Disease

ArticleYear
Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.
    BMC medical genetics, 2020, 03-02, Volume: 21, Issue:1

    Topics: Adult; Alanine; Amino Acid Substitution; Charcot-Marie-Tooth Disease; Family; Female; Gene Frequency

2020
Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.
    Audiology & neuro-otology, 2018, Volume: 23, Issue:6

    Topics: Aged; Alanine; Charcot-Marie-Tooth Disease; Chromosome Aberrations; Cochlear Nerve; Ear, Inner; Exom

2018
Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
    Muscle & nerve, 2008, Volume: 38, Issue:5

    Topics: Adult; Alanine; Arginine; Charcot-Marie-Tooth Disease; Connexins; DNA Mutational Analysis; Gap Junct

2008
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation.
    Journal of the neurological sciences, 2011, Aug-15, Volume: 307, Issue:1-2

    Topics: Adult; Alanine; Charcot-Marie-Tooth Disease; Electrodiagnosis; Female; GTP Phosphohydrolases; Humans

2011
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
    Neuromuscular disorders : NMD, 2004, Volume: 14, Issue:3

    Topics: Adult; Alanine; Charcot-Marie-Tooth Disease; DNA Mutational Analysis; Female; Hand Deformities; Huma

2004