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Page 1
Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Smolka M, et al. Among authors: proukakis c. Nat Biotechnol. 2024 Oct;42(10):1571-1580. doi: 10.1038/s41587-023-02024-y. Epub 2024 Jan 2. Nat Biotechnol. 2024. PMID: 38168980 Free PMC article.
Spastin and microtubules: Functions in health and disease.
Salinas S, Carazo-Salas RE, Proukakis C, Schiavo G, Warner TT. Salinas S, et al. Among authors: proukakis c. J Neurosci Res. 2007 Sep;85(12):2778-82. doi: 10.1002/jnr.21238. J Neurosci Res. 2007. PMID: 17348041 Review.
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH. Harlalka GV, et al. Among authors: proukakis c. Brain. 2013 Dec;136(Pt 12):3618-24. doi: 10.1093/brain/awt270. Epub 2013 Oct 7. Brain. 2013. PMID: 24103911 Free PMC article.
Copy number variation of LINGO1 in familial dystonic tremor.
Alakbarzade V, Iype T, Chioza BA, Singh R, Harlalka GV, Hardy H, Sreekantan-Nair A, Proukakis C, Peall K, Clark LN, Caswell R, Lango Allen H, Wakeling M, Chilton JK, Baple EL, Louis ED, Warner TT, Crosby AH. Alakbarzade V, et al. Among authors: proukakis c. Neurol Genet. 2019 Feb 4;5(1):e307. doi: 10.1212/NXG.0000000000000307. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30842974 Free PMC article.
Human spastin has multiple microtubule-related functions.
Salinas S, Carazo-Salas RE, Proukakis C, Cooper JM, Weston AE, Schiavo G, Warner TT. Salinas S, et al. Among authors: proukakis c. J Neurochem. 2005 Dec;95(5):1411-20. doi: 10.1111/j.1471-4159.2005.03472.x. Epub 2005 Oct 7. J Neurochem. 2005. PMID: 16219033 Free article.
111 results