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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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| Veröffentlicht in: | Neurol Genet |
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| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wolters Kluwer
2018
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| Schlagworte: | |
| Online Zugang: | 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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