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Early mortality in STXBP1-related disorders.
Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y; European STXBP1 consortium (ESCO); STXBP1 foundation; Rubboli G, Møller RS, Gardella E. Furia F, et al. Neurol Sci. 2024 Oct 11. doi: 10.1007/s10072-024-07783-3. Online ahead of print. Neurol Sci. 2024. PMID: 39392525
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G. Gardella E, et al. Among authors: furia f. Epilepsia. 2023 Aug;64(8):e170-e176. doi: 10.1111/epi.17634. Epub 2023 Jun 8. Epilepsia. 2023. PMID: 37114479
Epilepsy as a Novel Phenotype of BPTF-Related Disorders.
Ferretti A, Furlan M, Glinton KE, Fenger CD, Boschann F, Amlie-Wolf L, Zeidler S, Moretti R, Stoltenburg C, Tarquinio DC, Furia F, Parisi P, Rubboli G, Devinsky O, Mignot C, Gripp KW, Møller RS, Yang Y, Stankiewicz P, Gardella E. Ferretti A, et al. Among authors: furia f. Pediatr Neurol. 2024 Sep;158:17-25. doi: 10.1016/j.pediatrneurol.2024.06.001. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38936258
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z. Furia F, et al. Clin Genet. 2024 Nov;106(5):574-584. doi: 10.1111/cge.14587. Epub 2024 Jul 11. Clin Genet. 2024. PMID: 38988293
Sleep disturbances in SCN8A-related disorders.
Furia F, Johannesen KM, Bonardi CM, Previtali R, Aledo-Serrano A, Mastrangelo M, Favaro J, Masnada S, di Micco V, Proietti J, Veggiotti P, Rubboli G, Cantalupo G, Olofsson K, Møller RS, Gardella E. Furia F, et al. Epilepsia Open. 2024 Oct 3. doi: 10.1002/epi4.13042. Online ahead of print. Epilepsia Open. 2024. PMID: 39361253 Free article.
Quantitative EEG biomarkers for STXBP1-related disorders.
Cossu A, Furia F, Proietti J, Ancora C, Reale C, Darra F, Previtali R, Bernardina BD, Rubboli G, Beniczky S, Møller RS, Cantalupo G, Gardella E. Cossu A, et al. Among authors: furia f. Epilepsia. 2024 Oct 28. doi: 10.1111/epi.18154. Online ahead of print. Epilepsia. 2024. PMID: 39463124
Sleep and sleep disorders during pregnancy and postpartum: The Life-ON study.
Manconi M, van der Gaag LC, Mangili F, Garbazza C, Riccardi S, Cajochen C, Mondini S, Furia F, Zambrelli E, Baiardi S, Giordano A, Rizzo N, Fonti C, Viora E, D'Agostino A, Cicolin A, Cirignotta F; Life-ON Study Group; Group of Milan (Italy); Aquilino D, Barassi A, Del Giudice R, Fior G, Gambini O, Giordano B, Martini A, Serrati C, Stefanelli R, Scarone S, Canevini M, Fanti V, Stein HC, Marconi AM; Group of Turin (Italy); Raimondo E, Viglietta E; Group of Bologna (Italy); Santoro R, Simonazzi G, Bianconcini A; Group of Lugano (Switzerland); Meani F, Piazza N, Filippakos F, Gyr T. Manconi M, et al. Among authors: furia f. Sleep Med. 2024 Jan;113:41-48. doi: 10.1016/j.sleep.2023.10.021. Epub 2023 Nov 11. Sleep Med. 2024. PMID: 37984016
82 results