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Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.
Tsai MH, Ke HC, Lin WC, Nian FS, Huang CW, Cheng HY, Hsu CS, Granata T, Chang CH, Castellotti B, Lin SY, Doniselli FM, Lu CJ, Franceschetti S, Ragona F, Hou PS, Canafoglia L, Tung CY, Lee MH, Wang WJ, Tsai JW. Tsai MH, et al. Among authors: canafoglia l. Acta Neuropathol. 2024 Jan 9;147(1):13. doi: 10.1007/s00401-023-02665-y. Acta Neuropathol. 2024. PMID: 38194050 Free PMC article.
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Henden L, et al. Among authors: canafoglia l. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338
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. Neurology. 2001 May 22;56(10):1340-6. doi: 10.1212/wnl.56.10.1340. Neurology. 2001. PMID: 11376185
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. Mov Disord. 2006 Sep;21(9):1453-6. doi: 10.1002/mds.20984. Mov Disord. 2006. PMID: 16755579
ICTAL EEG fast activity in West syndrome: from onset to outcome.
Panzica F, Binelli S, Canafoglia L, Casazza M, Freri E, Granata T, Avanzini G, Franceschetti S. Panzica F, et al. Among authors: canafoglia l. Epilepsia. 2007 Nov;48(11):2101-10. doi: 10.1111/j.1528-1167.2007.01264.x. Epub 2007 Sep 6. Epilepsia. 2007. PMID: 17825076 Free article.
173 results