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

Year Number of Results
1980 7
1982 2
1985 2
1986 2
1988 1
1989 1
1990 2
1991 2
1992 2
1993 2
1994 3
1995 2
1996 4
1997 2
1998 5
1999 3
2000 3
2001 6
2002 4
2003 6
2004 6
2005 7
2006 14
2007 18
2008 9
2009 8
2010 15
2011 14
2012 20
2013 15
2014 18
2015 15
2016 16
2017 16
2018 16
2019 15
2020 12
2021 13
2022 5
2023 11
2024 6

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296 results

Results by year

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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: franceschetti s. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Sialidoses.
Franceschetti S, Canafoglia L. Franceschetti S, et al. Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. Epileptic Disord. 2016. PMID: 27621198 Review.
Unverricht-Lundborg disease.
Crespel A, Ferlazzo E, Franceschetti S, Genton P, Gouider R, Kälviäinen R, Korja M, Lehtinen MK, Mervaala E, Simonato M, Vaarmann A. Crespel A, et al. Among authors: franceschetti s. Epileptic Disord. 2016 Sep 1;18(S2):28-37. doi: 10.1684/epd.2016.0841. Epileptic Disord. 2016. PMID: 27582036 Review.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: franceschetti s. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
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: franceschetti s. 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.
Early-onset phenotype of bi-allelic GRN mutations.
Neuray C, Sultan T, Alvi JR, Franca MC, Assmann B, Wagner M, Canafoglia L, Franceschetti S, Rossi G, Santana I, Macario MC, Almeida MR, Kamate M, Parikh S, Elloumi HZ, Murphy D, Efthymiou S, Maroofian R, Houlden H. Neuray C, et al. Among authors: franceschetti s. Brain. 2021 Mar 3;144(2):e22. doi: 10.1093/brain/awaa414. Brain. 2021. PMID: 33351065 No abstract available.
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P. Costa C, et al. Among authors: franceschetti s. Epilepsia. 2023 Aug;64(8):e164-e169. doi: 10.1111/epi.17557. Epub 2023 Mar 9. Epilepsia. 2023. PMID: 36810721
Post-translational dysfunctions in channelopathies of the nervous system.
Terragni B, Scalmani P, Franceschetti S, Cestèle S, Mantegazza M. Terragni B, et al. Among authors: franceschetti s. Neuropharmacology. 2018 Apr;132:31-42. doi: 10.1016/j.neuropharm.2017.05.028. Epub 2017 May 29. Neuropharmacology. 2018. PMID: 28571716 Review.
Cellular biology of epileptogenesis.
Avanzini G, Franceschetti S. Avanzini G, et al. Among authors: franceschetti s. Lancet Neurol. 2003 Jan;2(1):33-42. doi: 10.1016/s1474-4422(03)00265-5. Lancet Neurol. 2003. PMID: 12849299 Review.
296 results