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Publisher Correction: 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):1616. doi: 10.1038/s41587-024-02141-2. Nat Biotechnol. 2024. PMID: 38253882 Free PMC article. No abstract available.
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.
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.
Kiely AP, Ling H, Asi YT, Kara E, Proukakis C, Schapira AH, Morris HR, Roberts HC, Lubbe S, Limousin P, Lewis PA, Lees AJ, Quinn N, Hardy J, Love S, Revesz T, Houlden H, Holton JL. Kiely AP, et al. Among authors: proukakis c. Mol Neurodegener. 2015 Aug 27;10:41. doi: 10.1186/s13024-015-0038-3. Mol Neurodegener. 2015. PMID: 26306801 Free PMC article.
The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein.
Porcari R, Proukakis C, Waudby CA, Bolognesi B, Mangione PP, Paton JF, Mullin S, Cabrita LD, Penco A, Relini A, Verona G, Vendruscolo M, Stoppini M, Tartaglia GG, Camilloni C, Christodoulou J, Schapira AH, Bellotti V. Porcari R, et al. Among authors: proukakis c. J Biol Chem. 2015 Jan 23;290(4):2395-404. doi: 10.1074/jbc.M114.610527. Epub 2014 Dec 10. J Biol Chem. 2015. PMID: 25505181 Free PMC article.
111 results