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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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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Sainio, Markus T., Ylikallio, Emil, Mäenpää, Laura, Lahtela, Jenni, Mattila, Pirkko, Auranen, Mari, Palmio, Johanna, Tyynismaa, Henna
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5991776/
https://ncbi.nlm.nih.gov/pubmed/29888333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000244
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