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Pathobiology of Christianson Syndrome: Linking Disrupted Endosomal-Lysosomal Function with Intellectual Disability and Sensory Impairments
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to...
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| Publicado en: | Neurobiol Learn Mem |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6235725/ https://ncbi.nlm.nih.gov/pubmed/29772390 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nlm.2018.05.004 |
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