A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is frequently linked to microtubule abnormalities and mitochondrial trafficking defects. Whole exome sequencing (WES) of patient-parent trios has proven to be an efficient strategy for identifying rare de novo genetic vari...

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Detalles Bibliográficos
Autores principales: Heo, Keunjung, Lim, Su Min, Nahm, Minyeop, Kim, Young-Eun, Oh, Ki-Wook, Park, Hwan Tae, Ki, Chang-Seok, Kim, Seung Hyun, Lee, Seungbok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Brain and Neural Science 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318558/
https://www.ncbi.nlm.nih.gov/pubmed/30636905
http://dx.doi.org/10.5607/en.2018.27.6.550

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