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Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability
OBJECTIVE: To identify and characterize the molecular basis of a syndrome associated with myasthenia, cortical hyperexcitability, cerebellar ataxia, and intellectual disability. METHODS: We performed in vitro microelectrode studies of neuromuscular transmission, performed exome and Sanger sequencing...
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| Publicat a: | Neurology |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Lippincott Williams & Wilkins
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4277673/ https://ncbi.nlm.nih.gov/pubmed/25381298 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001079 |
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