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2003 2
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2009 4
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2020 1
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Page 1
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS. Henderson MX, et al. Among authors: dolzhanskaya n. Acta Neuropathol. 2016 Apr;131(4):621-37. doi: 10.1007/s00401-015-1512-2. Epub 2015 Dec 10. Acta Neuropathol. 2016. PMID: 26659577 Free PMC article.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group; van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP. de Lange IM, et al. Among authors: dolzhanskaya n. J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358180 Free PMC article.
On BC1 RNA and the fragile X mental retardation protein.
Iacoangeli A, Rozhdestvensky TS, Dolzhanskaya N, Tournier B, Schütt J, Brosius J, Denman RB, Khandjian EW, Kindler S, Tiedge H. Iacoangeli A, et al. Among authors: dolzhanskaya n. Proc Natl Acad Sci U S A. 2008 Jan 15;105(2):734-9. doi: 10.1073/pnas.0710991105. Epub 2008 Jan 9. Proc Natl Acad Sci U S A. 2008. PMID: 18184799 Free PMC article.
22 results