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A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.
Lindquist SG, Hasholt L, Bahl JM, Heegaard NH, Andersen BB, Nørremølle A, Stokholm J, Schwartz M, Batbayli M, Laursen H, Pardossi-Piquard R, Chen F, St George-Hyslop P, Waldemar G, Nielsen JE. Lindquist SG, et al. Among authors: batbayli m. Eur J Neurol. 2008 Oct;15(10):1135-9. doi: 10.1111/j.1468-1331.2008.02256.x. Epub 2008 Aug 22. Eur J Neurol. 2008. PMID: 18727676
Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation.
Lindquist SG, Nielsen JE, Stokholm J, Schwartz M, Batbayli M, Ballegaard M, Erdal J, Krabbe K, Waldemar G. Lindquist SG, et al. Among authors: batbayli m. J Neurol Sci. 2008 May 15;268(1-2):124-30. doi: 10.1016/j.jns.2007.11.021. Epub 2008 Jan 9. J Neurol Sci. 2008. PMID: 18187157
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
Ostergaard E, Batbayli M, Duno M, Vilhelmsen K, Rosenberg T. Ostergaard E, et al. Among authors: batbayli m. J Med Genet. 2010 Oct;47(10):665-9. doi: 10.1136/jmg.2009.069120. Epub 2010 Aug 30. J Med Genet. 2010. PMID: 20805371 Free PMC article.
11 results