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Whole genome analysis in a consanguineous family with early onset Alzheimer's disease.
Clarimón J, Djaldetti R, Lleó A, Guerreiro RJ, Molinuevo JL, Paisán-Ruiz C, Gómez-Isla T, Blesa R, Singleton A, Hardy J. Clarimón J, et al. Among authors: djaldetti r. Neurobiol Aging. 2009 Dec;30(12):1986-91. doi: 10.1016/j.neurobiolaging.2008.02.008. Epub 2008 Apr 2. Neurobiol Aging. 2009. PMID: 18387709 Free PMC article.
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.
Bras J, Djaldetti R, Alves AM, Mead S, Darwent L, Lleo A, Molinuevo JL, Blesa R, Singleton A, Hardy J, Clarimon J, Guerreiro R. Bras J, et al. Among authors: djaldetti r. Neurobiol Aging. 2016 Oct;46:236.e1-6. doi: 10.1016/j.neurobiolaging.2016.06.018. Epub 2016 Jul 4. Neurobiol Aging. 2016. PMID: 27524508 Free PMC article.
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.
Tomiyama H, Li Y, Funayama M, Hasegawa K, Yoshino H, Kubo S, Sato K, Hattori T, Lu CS, Inzelberg R, Djaldetti R, Melamed E, Amouri R, Gouider-Khouja N, Hentati F, Hatano Y, Wang M, Imamichi Y, Mizoguchi K, Miyajima H, Obata F, Toda T, Farrer MJ, Mizuno Y, Hattori N. Tomiyama H, et al. Among authors: djaldetti r. Mov Disord. 2006 Aug;21(8):1102-8. doi: 10.1002/mds.20886. Mov Disord. 2006. PMID: 16622854
Familial Parkinsonism with digenic parkin and PINK1 mutations.
Funayama M, Li Y, Tsoi TH, Lam CW, Ohi T, Yazawa S, Uyama E, Djaldetti R, Melamed E, Yoshino H, Imamichi Y, Takashima H, Nishioka K, Sato K, Tomiyama H, Kubo S, Mizuno Y, Hattori N. Funayama M, et al. Among authors: djaldetti r. Mov Disord. 2008 Jul 30;23(10):1461-5. doi: 10.1002/mds.22143. Mov Disord. 2008. PMID: 18546294
Camptocormia in Parkinson's disease.
Melamed E, Djaldetti R. Melamed E, et al. Among authors: djaldetti r. J Neurol. 2006 Dec;253 Suppl 7:VII14-16. doi: 10.1007/s00415-006-7004-5. J Neurol. 2006. PMID: 17131221 Review.
150 results