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Year Number of Results
1972 3
1973 2
1974 3
1987 1
1988 2
1998 1
2004 2
2005 1
2007 1
2008 6
2009 3
2010 5
2014 1
2015 4
2016 7
2017 3
2019 4
2020 8
2021 8
2022 3
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2024 17

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82 results

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Page 1
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: furia f. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
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
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Among authors: furia f. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
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
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.
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
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
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
82 results