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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Main Authors: 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
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2011
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Articles
Acesso em linha: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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