Page last updated: 2024-09-05

mme and Charcot-Marie-Tooth Disease

mme has been researched along with Charcot-Marie-Tooth Disease in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (33.33)24.3611
2020's2 (66.67)2.80

Authors

AuthorsStudies
Canosa, A; Ferrero, B; Gallone, S; Parisi, M; Tessa, A1
Hashiguchi, H; Higuchi, Y; Ohnari, K; Okada, K; Takashima, H; Yamashiro, M1
Goizet, C; Magy, L; Mathis, S; Tazir, M; Vallat, JM1

Other Studies

3 other study(ies) available for mme and Charcot-Marie-Tooth Disease

ArticleYear
A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene.
    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023, Volume: 44, Issue:4

    Topics: Charcot-Marie-Tooth Disease; Heterozygote; Humans; Mutation

2023
[A case of Charcot-Marie-Tooth disease type 2 caused by homozygous MME gene mutation].
    Rinsho shinkeigaku = Clinical neurology, 2023, Nov-23, Volume: 63, Issue:11

    Topics: Adult; Charcot-Marie-Tooth Disease; Cyanosis; Humans; Male; Muscle Weakness; Mutation; Neprilysin; Pedigree; Phenotype

2023
Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T.
    Annals of neurology, 2016, Volume: 80, Issue:3

    Topics: Charcot-Marie-Tooth Disease; Endrin; Humans; Mutation; Phenotype

2016