Repeat expansion in C9ORF72 in Alzheimer's disease - PubMed (original) (raw)
Repeat expansion in C9ORF72 in Alzheimer's disease
Elisa Majounie et al. N Engl J Med. 2012.
No abstract available
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References
- Querfurth HW, LaFerla FM. Alzheimer’s disease. N Engl J Med. 2010;362:329–44. - PubMed
- Blacker D, Haines JL, Rodes L, et al. ApoE-4 and age at onset of Alzheimer’s disease: the NIMH genetics initiative. Neurology. 1997;48:139–47. - PubMed
- Lim A, Tsuang D, Kukull W, et al. Clinico-neuropathological correlation of Alzheimer’s disease in a community-based cases series. J Am Geriatr Soc. 1999;47:564–9. - PubMed
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