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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Among authors: baldassari s. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy.
Licchetta L, Poda R, Vignatelli L, Pippucci T, Zenesini C, Menghi V, Mostacci B, Baldassari S, Provini F, Tinuper P, Bisulli F. Licchetta L, et al. Among authors: baldassari s. Sleep Med. 2018 Aug;48:8-15. doi: 10.1016/j.sleep.2018.03.027. Epub 2018 Apr 30. Sleep Med. 2018. PMID: 29843024
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Pippucci T, Licchetta L, Baldassari S, Marconi C, De Luise M, Myers C, Nardi E, Provini F, Cameli C, Minardi R, Bacchelli E, Giordano L, Crichiutti G, d'Orsi G, Seri M, Gasparre G, Mefford HC, Tinuper P, Bisulli F; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission. Pippucci T, et al. Among authors: baldassari s. Ann Clin Transl Neurol. 2019 Feb 25;6(3):475-485. doi: 10.1002/acn3.722. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911571 Free PMC article.
DEPDC5 mutations in epilepsy with auditory features.
Bisulli F, Licchetta L, Baldassari S, Pippucci T, Tinuper P. Bisulli F, et al. Among authors: baldassari s. Epilepsia. 2016 Feb;57(2):335. doi: 10.1111/epi.13233. Epilepsia. 2016. PMID: 26849478 Free article. No abstract available.
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A, Baiardi S, Stanzani-Maserati M, Piras S, Caffarra P, Raggi A, Pantieri R, Baldassari S, Caporali L, Abu-Rumeileh S, Linarello S, Liguori R, Parchi P, Capellari S. Bartoletti-Stella A, et al. Among authors: baldassari s. Neurobiol Aging. 2018 Jun;66:180.e23-180.e31. doi: 10.1016/j.neurobiolaging.2018.02.006. Epub 2018 Feb 13. Neurobiol Aging. 2018. PMID: 29525180
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Henden L, et al. Among authors: baldassari s. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338
107 results