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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.
Epileptic phenotypes associated with mitochondrial disorders.
Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M, Avanzini G. Canafoglia L, et al. Among authors: franceschetti s. Neurology. 2001 May 22;56(10):1340-6. doi: 10.1212/wnl.56.10.1340. Neurology. 2001. PMID: 11376185
Cortical myoclonus in Janz syndrome.
Panzica F, Rubboli G, Franceschetti S, Avanzini G, Meletti S, Pozzi A, Tassinari CA. Panzica F, et al. Among authors: franceschetti s. Clin Neurophysiol. 2001 Oct;112(10):1803-9. doi: 10.1016/s1388-2457(01)00634-4. Clin Neurophysiol. 2001. PMID: 11595137
Rhythmic cortical myoclonus in a case of HIV-related encephalopathy.
Canafoglia L, Panzica F, Franceschetti S, Carriero MR, Ciano C, Scaioli V, Chiapparini L, Visani E, Avanzini G. Canafoglia L, et al. Among authors: franceschetti s. Mov Disord. 2003 Dec;18(12):1533-8. doi: 10.1002/mds.10584. Mov Disord. 2003. PMID: 14673894
A pilot study of a ketogenic diet in patients with Lafora body disease.
Cardinali S, Canafoglia L, Bertoli S, Franceschetti S, Lanzi G, Tagliabue A, Veggiotti P. Cardinali S, et al. Among authors: franceschetti s. Epilepsy Res. 2006 May;69(2):129-34. doi: 10.1016/j.eplepsyres.2006.01.007. Epub 2006 Feb 28. Epilepsy Res. 2006. PMID: 16504479
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian B, Zara F. Franceschetti S, et al. Epilepsia. 2006 Mar;47(3):640-3. doi: 10.1111/j.1528-1167.2006.00479.x. Epilepsia. 2006. PMID: 16529633 Free article.
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
Canafoglia L, Bugiani M, Uziel G, Dalla Bernardina B, Ciano C, Scaioli V, Avanzini G, Franceschetti S, Panzica F. Canafoglia L, et al. Among authors: franceschetti s. Mov Disord. 2006 Sep;21(9):1453-6. doi: 10.1002/mds.20984. Mov Disord. 2006. PMID: 16755579
319 results