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Page 1
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Martinelli S, Cordeddu V, Galosi S, Lanzo A, Palma E, Pannone L, Ciolfi A, Di Nottia M, Rizza T, Bocchinfuso G, Traversa A, Caputo V, Farrotti A, Carducci C, Bernardini L, Cogo S, Paglione M, Venditti M, Bentivoglio A, Ng J, Kurian MA, Civiero L, Greggio E, Stella L, Trettel F, Sciaccaluga M, Roseti C, Carrozzo R, Fucile S, Limatola C, Di Schiavi E, Tartaglia M, Leuzzi V. Martinelli S, et al. Among authors: fucile s. Parkinsonism Relat Disord. 2020 Mar;72:75-79. doi: 10.1016/j.parkreldis.2020.02.003. Epub 2020 Feb 15. Parkinsonism Relat Disord. 2020. PMID: 32120303
GABA(A)-current rundown of temporal lobe epilepsy is associated with repetitive activation of GABA(A) "phasic" receptors.
Palma E, Roseti C, Maiolino F, Fucile S, Martinello K, Mazzuferi M, Aronica E, Manfredi M, Esposito V, Cantore G, Miledi R, Simonato M, Eusebi F. Palma E, et al. Among authors: fucile s. Proc Natl Acad Sci U S A. 2007 Dec 26;104(52):20944-8. doi: 10.1073/pnas.0710522105. Epub 2007 Dec 14. Proc Natl Acad Sci U S A. 2007. PMID: 18083839 Free PMC article.
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.
Sabatelli M, Eusebi F, Al-Chalabi A, Conte A, Madia F, Luigetti M, Mancuso I, Limatola C, Trettel F, Sobrero F, Di Angelantonio S, Grassi F, Di Castro A, Moriconi C, Fucile S, Lattante S, Marangi G, Murdolo M, Orteschi D, Del Grande A, Tonali P, Neri G, Zollino M. Sabatelli M, et al. Among authors: fucile s. Hum Mol Genet. 2009 Oct 15;18(20):3997-4006. doi: 10.1093/hmg/ddp339. Epub 2009 Jul 23. Hum Mol Genet. 2009. PMID: 19628475
Enhancement of GABA(A)-current run-down in the hippocampus occurs at the first spontaneous seizure in a model of temporal lobe epilepsy.
Mazzuferi M, Palma E, Martinello K, Maiolino F, Roseti C, Fucile S, Fabene PF, Schio F, Pellitteri M, Sperk G, Miledi R, Eusebi F, Simonato M. Mazzuferi M, et al. Among authors: fucile s. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3180-5. doi: 10.1073/pnas.0914710107. Epub 2010 Jan 26. Proc Natl Acad Sci U S A. 2010. PMID: 20133704 Free PMC article.
155 results