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Page 1
CMT4A: identification of a Hispanic GDAP1 founder mutation.
Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR. Boerkoel CF, et al. Ann Neurol. 2003 Mar;53(3):400-5. doi: 10.1002/ana.10505. Ann Neurol. 2003. PMID: 12601710
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Jordanova A, et al. Among authors: papasozomenos sch. Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059. Brain. 2003. PMID: 12566280
Testosterone prevents the heat shock-induced overactivation of glycogen synthase kinase-3 beta but not of cyclin-dependent kinase 5 and c-Jun NH2-terminal kinase and concomitantly abolishes hyperphosphorylation of tau: implications for Alzheimer's disease.
Papasozomenos SCh, Shanavas A. Papasozomenos SCh, et al. Proc Natl Acad Sci U S A. 2002 Feb 5;99(3):1140-5. doi: 10.1073/pnas.032646799. Epub 2002 Jan 22. Proc Natl Acad Sci U S A. 2002. PMID: 11805297 Free PMC article.