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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 2
2008 2
2009 2
2010 4
2011 6
2012 8
2013 10
2014 9
2015 13
2016 12
2017 8
2018 12
2019 11
2020 12
2021 13
2022 13
2023 10
2024 7

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133 results

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Page 1
Gut microbiota profile in CDKL5 deficiency disorder patients.
Borghi E, Xynomilakis O, Ottaviano E, Ceccarani C, Viganò I, Tognini P, Vignoli A. Borghi E, et al. Among authors: vignoli a. Sci Rep. 2024 Mar 28;14(1):7376. doi: 10.1038/s41598-024-56989-0. Sci Rep. 2024. PMID: 38548767 Free PMC article.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
Teutonico F, Volpe C, Proto A, Costi I, Cavallari U, Doneda P, Iascone M, Sturiale L, Barone R, Martinelli S, Vignoli A. Teutonico F, et al. Among authors: vignoli a. Neurogenetics. 2024 Mar 18. doi: 10.1007/s10048-024-00754-y. Online ahead of print. Neurogenetics. 2024. PMID: 38498292
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM. Fetta A, et al. Among authors: vignoli a. Orphanet J Rare Dis. 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. Orphanet J Rare Dis. 2024. PMID: 38459574 Free PMC article. Review.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: vignoli a. Brain. 2024 Mar 8:awae056. doi: 10.1093/brain/awae056. Online ahead of print. Brain. 2024. PMID: 38456468
Myoclonus: Differential diagnosis and current management.
Riva A, D'Onofrio G, Ferlazzo E, Pascarella A, Pasini E, Franceschetti S, Panzica F, Canafoglia L, Vignoli A, Coppola A, Badioni V, Beccaria F, Labate A, Gambardella A, Romeo A, Capovilla G, Michelucci R, Striano P, Belcastro V. Riva A, et al. Among authors: vignoli a. Epilepsia Open. 2024 Apr;9(2):486-500. doi: 10.1002/epi4.12917. Epub 2024 Feb 9. Epilepsia Open. 2024. PMID: 38334331 Free PMC article. Review.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C. Cavirani B, et al. Among authors: vignoli a. Int J Mol Sci. 2024 Jan 19;25(2):1248. doi: 10.3390/ijms25021248. Int J Mol Sci. 2024. PMID: 38279250 Free PMC article.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, Nigro V, Pinelli M, Pippucci T, Bellampalli R, Salis B, Sofia V, Striano P, Striano S, Tassi L, Vignoli A, Vaudano AE, Viri M, Scheffer IE, May P, Zara F, Sisodiya SM. Coppola A, et al. Among authors: vignoli a. Epilepsia. 2024 Mar;65(3):779-791. doi: 10.1111/epi.17859. Epub 2023 Dec 23. Epilepsia. 2024. PMID: 38088023 Free article.
Adjunctive brivaracetam and sustained seizure frequency reduction in very active focal epilepsy.
Lattanzi S, Canafoglia L, Canevini MP, Casciato S, Cerulli Irelli E, Chiesa V, Dainese F, De Maria G, Didato G, Di Gennaro G, Falcicchio G, Fanella M, Ferlazzo E, Gangitano M, La Neve A, Mecarelli O, Montalenti E, Morano A, Piazza F, Pizzanelli C, Pulitano P, Ranzato F, Rosati E, Tassi L, Di Bonaventura C; BRIVAFIRST (Brivaracetam Add‐On First Italian Network Study) Group Membership. Lattanzi S, et al. Epilepsia. 2023 Nov;64(11):2922-2933. doi: 10.1111/epi.17740. Epub 2023 Sep 9. Epilepsia. 2023. PMID: 38079181 Free article.
133 results