Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

OBJECTIVE: We used patient-specific neuronal cultures to characterize the molecular genetic mechanism of recessive nonsense mutations in neurofilament light (NEFL) underlying early-onset Charcot-Marie-Tooth (CMT) disease. METHODS: Motor neurons were differentiated from induced pluripotent stem cells...

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Detalles Bibliográficos
Autores principales: Sainio, Markus T., Ylikallio, Emil, Mäenpää, Laura, Lahtela, Jenni, Mattila, Pirkko, Auranen, Mari, Palmio, Johanna, Tyynismaa, Henna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991776/
https://www.ncbi.nlm.nih.gov/pubmed/29888333
http://dx.doi.org/10.1212/NXG.0000000000000244

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991776/
https://www.ncbi.nlm.nih.gov/pubmed/29888333
http://dx.doi.org/10.1212/NXG.0000000000000244

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