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Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Among authors: guerrini r. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C; EuroEPINOMICS-RES Consortium; Ware JS, Kurki M, Gormley P, Tang S, Wu S, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ. Lal D, et al. Among authors: guerrini r. Genome Med. 2020 Mar 17;12(1):28. doi: 10.1186/s13073-020-00725-6. Genome Med. 2020. PMID: 32183904 Free PMC article.
Focal cortical dysplasia: a practical guide for neurologists.
Balestrini S, Barba C, Thom M, Guerrini R. Balestrini S, et al. Among authors: guerrini r. Pract Neurol. 2023 Aug;23(4):293-302. doi: 10.1136/pn-2022-003404. Epub 2023 Feb 23. Pract Neurol. 2023. PMID: 36823117 Review.
Multimodal mapping of regional brain vulnerability to focal cortical dysplasia.
Lee HM, Hong SJ, Gill R, Caldairou B, Wang I, Zhang JG, Deleo F, Schrader D, Bartolomei F, Guye M, Cho KH, Barba C, Sisodiya S, Jackson G, Hogan RE, Wong-Kisiel L, Cascino GD, Schulze-Bonhage A, Lopes-Cendes I, Cendes F, Guerrini R, Bernhardt B, Bernasconi N, Bernasconi A. Lee HM, et al. Among authors: guerrini r. Brain. 2023 Aug 1;146(8):3404-3415. doi: 10.1093/brain/awad060. Brain. 2023. PMID: 36852571 Free PMC article.
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome.
Lenge M, Balestrini S, Mei D, Macconi L, Caligiuri ME, Cuccarini V, Aquino D, Mazzi F, d'Incerti L, Darra F, Bernardina BD, Guerrini R. Lenge M, et al. Among authors: guerrini r. Cereb Cortex. 2023 Aug 8;33(16):9532-9541. doi: 10.1093/cercor/bhad224. Cereb Cortex. 2023. PMID: 37344172 Free PMC article.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: guerrini r. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR. Carapancea E, et al. Among authors: guerrini r. Neurology. 2023 Mar 21;100(12):e1234-e1247. doi: 10.1212/WNL.0000000000206755. Epub 2023 Jan 4. Neurology. 2023. PMID: 36599696 Free PMC article.
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study.
Toldo I, Brunello F, Cavasin P, Nosadini M, Sartori S, Frigo AC, Mai R, Pelliccia V, Mancardi MM, Striano P, Severino M, Zara F, Rizzi R, Casellato S, Di Rosa G, Mastrangelo M, Spalice A, Budetta M, De Palma L, Guerrini R, Pruna D, Cordelli DM, Sofia V, Papa A, Chiesa V, Ragona F, Parisi P, D'Aniello A, Veggiotti P, Dainese F, Giordano L, Licchetta L, Tinuper P, D'Orsi G, Cassina M, Manara R. Toldo I, et al. Among authors: guerrini r. Pediatr Neurol. 2023 Apr;141:58-64. doi: 10.1016/j.pediatrneurol.2023.01.012. Epub 2023 Jan 24. Pediatr Neurol. 2023. PMID: 36773408 Free article.
1,080 results