Cargando…
Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties
Charcot-Marie-Tooth (CMT) diseases are genetic neuropathies in the peripheral nervous system (PNS). Type 1 CMT diseases are neuropathies in Schwann cells, PNS myelinating glial cells, whereas type 2 CMT diseases are axonal neuropathies. In addition, there are other types of categories in CMT disease...
Autores principales: | Imaizumi, Naoko, Takeuchi, Yu, Hirano, Haruka, Torii, Tomohiro, Seki, Yoichi, Morimoto, Takako, Miyamoto, Yuki, Sakagami, Hiroyuki, Yamauchi, Junji |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554220/ https://www.ncbi.nlm.nih.gov/pubmed/31194127 http://dx.doi.org/10.1016/j.dib.2019.104029 |
Ejemplares similares
-
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
por: Høyer, Helle, et al.
Publicado: (2022) -
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland
por: Lehtilahti, Maria, et al.
Publicado: (2021) -
A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease
por: Li, Li-Xi, et al.
Publicado: (2017) -
Diagnosis of Charcot-Marie-Tooth Disease
por: Banchs, Isabel, et al.
Publicado: (2009) -
Strategy for genetic testing in Charcot-Marie-Disease
por: Miller, L.J., et al.
Publicado: (2011)