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186 results

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Page 1
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J. Corbett MA, et al. Among authors: di bonaventura c. Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y. Nat Commun. 2019. PMID: 31664034 Free PMC article.
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.
Striano P, Gambardella A, Coppola A, Di Bonaventura C, Bovo G, Diani E, Boaretto F, Egeo G, Ciampa C, Labate A, Testoni S, Passarelli D, Manna I, Sferro C, Aguglia U, Caranci F, Giallonardo AT, Striano S, Nobile C, Michelucci R. Striano P, et al. Among authors: di bonaventura c. J Neurol. 2008 Jan;255(1):16-23. doi: 10.1007/s00415-007-0653-1. Epub 2007 Nov 21. J Neurol. 2008. PMID: 18004642
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome).
Striano P, Sofia V, Capovilla G, Rubboli G, Di Bonaventura C, Coppola A, Vitale G, Fontanillas L, Giallonardo AT, Biondi R, Romeo A, Viri M, Zara F, Striano S. Striano P, et al. Among authors: di bonaventura c. Epilepsia. 2008 Mar;49(3):425-30. doi: 10.1111/j.1528-1167.2007.01524.x. Epub 2008 Jan 29. Epilepsia. 2008. PMID: 18248445 Free article. Clinical Trial.
ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy.
Rigon L, Vettori A, Busolin G, Egeo G, Pulitano P, Santulli L, Pasini E, Striano P, la Neve A, Vianello Dri V, Boniver C, Gambardella A, Banfi P, Binelli S, Di Bonaventura C, Striano S, de Falco F, Giallonardo AT, Mecarelli O, Michelucci R, Nobile C. Rigon L, et al. Among authors: di bonaventura c. Epilepsy Res Treat. 2011;2011:258365. doi: 10.1155/2011/258365. Epub 2010 Dec 21. Epilepsy Res Treat. 2011. PMID: 22937229 Free PMC article.
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.
De Fusco M, Vago R, Striano P, Di Bonaventura C, Zara F, Mei D, Kim MS, Muallem S, Chen Y, Wang Q, Guerrini R, Casari G. De Fusco M, et al. Among authors: di bonaventura c. Ann Neurol. 2014 Jan;75(1):77-87. doi: 10.1002/ana.24028. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24114805 Free PMC article.
Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras.
Dazzo E, Santulli L, Posar A, Fattouch J, Conti S, Lodén-van Straaten M, Mijalkovic J, De Bortoli M, Rosa M, Millino C, Pacchioni B, Di Bonaventura C, Giallonardo AT, Striano S, Striano P, Parmeggiani A, Nobile C. Dazzo E, et al. Among authors: di bonaventura c. Epilepsy Res. 2015 Feb;110:132-8. doi: 10.1016/j.eplepsyres.2014.12.004. Epub 2014 Dec 16. Epilepsy Res. 2015. PMID: 25616465
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C. Dazzo E, et al. Among authors: di bonaventura c. Am J Hum Genet. 2015 Jun 4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020. Am J Hum Genet. 2015. PMID: 26046367 Free PMC article.
186 results