Browsing by Author "Seminara, Stephanie"
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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
Margolin, David H.; Kousi, Maria; Chan, Yee-Ming; Lim, Elaine T.; Schmahmann, Jeremy Dan; Hadjivassiliou, Marios; Hall, Janet E.; Adam, Ibrahim; Dwyer, Andrew; Plummer, Lacey; Aldrin, Stephanie V.; O, Julia; Kirby, Andrew; Lage, Kasper; Milunsky, Aubrey; Milunsky, Jeff M.; Chan, Jennifer Ang; Hedley-Whyte, E. Tessa; Daly, Mark Joseph; Katsanis, Nicholas; Seminara, Stephanie Beth (New England Journal of Medicine (NEJM/MMS), 2013)In recent years, we have seen great advances in the elucidation of genetic causes of cerebellar ataxia, with newly identified genes regulating a wide spectrum of cellular functions, including intracellular signaling, tau ...