GFAP mutations, age at onset, and clinical subtypes in Alexander disease

OBJECTIVE: To characterize Alexander disease (AxD) phenotypes and determine correlations with age at onset (AAO) and genetic mutation. AxD is an astrogliopathy usually characterized on MRI by leukodystrophy and caused by glial fibrillary acidic protein (GFAP) mutations. METHODS: We present 30 new ca...

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Autores principales: Prust, M., Wang, J., Morizono, H., Messing, A., Brenner, M., Gordon, E., Hartka, T., Sokohl, A., Schiffmann, R., Gordish-Dressman, H., Albin, R., Amartino, H., Brockman, K., Dinopoulos, A., Dotti, M.T., Fain, D., Fernandez, R., Ferreira, J., Fleming, J., Gill, D., Griebel, M., Heilstedt, H., Kaplan, P., Lewis, D., Nakagawa, M., Pedersen, R., Reddy, A., Sawaishi, Y., Schneider, M., Sherr, E., Takiyama, Y., Wakabayashi, K., Gorospe, J.R., Vanderver, A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Lippincott Williams & Wilkins 2011
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3179649/
https://ncbi.nlm.nih.gov/pubmed/21917775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182309f72
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