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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2011
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On-line přístup: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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