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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: veneziano l. Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y. Nat Commun. 2019. PMID: 31664034 Free PMC article.
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. Di Bella D, et al. Among authors: veneziano l. Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7. Nat Genet. 2010. PMID: 20208537
Leukocyte telomere shortening in Huntington's disease.
Scarabino D, Veneziano L, Peconi M, Frontali M, Mantuano E, Corbo RM. Scarabino D, et al. Among authors: veneziano l. J Neurol Sci. 2019 Jan 15;396:25-29. doi: 10.1016/j.jns.2018.10.024. Epub 2018 Oct 28. J Neurol Sci. 2019. PMID: 30396032
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions.
Frontali M, Sabbadini G, Novelletto A, Jodice C, Naso F, Spadaro M, Giunti P, Jacopini AG, Veneziano L, Mantuano E, Malaspina P, Ulizzi L, Brice A, Durr A, Terrenato L. Frontali M, et al. Among authors: veneziano l. Ann Hum Genet. 1996 Sep;60(5):423-35. doi: 10.1111/j.1469-1809.1996.tb00440.x. Ann Hum Genet. 1996. PMID: 8912795 Free article.
67 results