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Page 1
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: di bonaventura c. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.
De Fusco M, Vago R, Striano P, Di Bonaventura C, Zara F, Mei D, Kim MS, Muallem S, Chen Y, Wang Q, Guerrini R, Casari G. De Fusco M, et al. Among authors: di bonaventura c. Ann Neurol. 2014 Jan;75(1):77-87. doi: 10.1002/ana.24028. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24114805 Free PMC article.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Courage C, et al. Among authors: di bonaventura c. Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013. Am J Hum Genet. 2021. PMID: 33798445 Free PMC article.
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF. Oliver KL, et al. Among authors: di bonaventura c. Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929. Ann Neurol. 2017. PMID: 28380698
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Canafoglia L, Franceschetti S, Gambardella A, Striano P, Giallonardo AT, Tinuper P, Di Bonaventura C, Michelucci R, Ferlazzo E, Granata T, Magaudda A, Licchetta L, Filla A, La Neve A, Riguzzi P, Cantisani TA, Fanella M, Castellotti B, Gellera C, Bahlo M, Zara F, Courage C, Lehesjoki AE, Oliver KL, Berkovic SF. Canafoglia L, et al. Among authors: di bonaventura c. Neurol Genet. 2021 Nov 12;7(6):e641. doi: 10.1212/NXG.0000000000000641. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34786481 Free PMC article.
Olfactory impairment in autoimmune encephalitis: another piece of the puzzle.
Morano A, Cerulli Irelli E, Fanella M, Orlando B, Salamone EM, Tinelli E, Ruffolo G, Zuliani L, Fattouch J, Manfredi M, Giallonardo AT, Di Bonaventura C. Morano A, et al. Among authors: di bonaventura c. J Neurol. 2022 May;269(5):2762-2768. doi: 10.1007/s00415-022-10959-6. Epub 2022 Jan 10. J Neurol. 2022. PMID: 35006386 Free PMC article.
Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences.
Cerulli Irelli E, Cocchi E, Ramantani G, Caraballo RH, Giuliano L, Yilmaz T, Morano A, Panagiotakaki E, Operto FF, Gonzalez Giraldez B, Silvennoinen K, Casciato S, Comajuan M, Balestrini S, Fortunato F, Coppola A, Di Gennaro G, Labate A, Sofia V, Kluger GJ, Kasteleijn-Nolst Trenité DGA, Gambardella A, Baykan B, Sisodiya SM, Arzimanoglou A, Striano P, Di Bonaventura C; EMA Study Group. Cerulli Irelli E, et al. Among authors: di gennaro g, di bonaventura c. Neurology. 2022 May 3;98(18):e1865-e1876. doi: 10.1212/WNL.0000000000200165. Epub 2022 Mar 15. Neurology. 2022. PMID: 35292555
Generalized Fast Discharges Along the Genetic Generalized Epilepsy Spectrum: Clinical and Prognostic Significance.
Cerulli Irelli E, Barone FA, Mari L, Morano A, Orlando B, Salamone EM, Marchi A, Fanella M, Fattouch J, Placidi F, Giallonardo AT, Izzi F, Di Bonaventura C. Cerulli Irelli E, et al. Among authors: di bonaventura c. Front Neurol. 2022 Mar 10;13:844674. doi: 10.3389/fneur.2022.844674. eCollection 2022. Front Neurol. 2022. PMID: 35356452 Free PMC article.
Use of cenobamate for the treatment of focal epilepsy: an Italian expert opinion paper.
Villani F, Cianci V, Di Bonaventura C, Di Gennaro G, Galimberti CA, Guerrini R, La Neve A, Mecarelli O, Pietrafusa N, Specchio N, Vigevano F, Perucca E. Villani F, et al. Among authors: di gennaro g, di bonaventura c. Expert Rev Neurother. 2022 Nov-Dec;22(11-12):935-940. doi: 10.1080/14737175.2023.2171291. Epub 2023 Jan 24. Expert Rev Neurother. 2022. PMID: 36662573 Review.
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.
Striano P, Gambardella A, Coppola A, Di Bonaventura C, Bovo G, Diani E, Boaretto F, Egeo G, Ciampa C, Labate A, Testoni S, Passarelli D, Manna I, Sferro C, Aguglia U, Caranci F, Giallonardo AT, Striano S, Nobile C, Michelucci R. Striano P, et al. Among authors: di bonaventura c. J Neurol. 2008 Jan;255(1):16-23. doi: 10.1007/s00415-007-0653-1. Epub 2007 Nov 21. J Neurol. 2008. PMID: 18004642
187 results