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Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Among authors: sofia v. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
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. Among authors: sofia v. Epilepsia. 2006 Mar;47(3):640-3. doi: 10.1111/j.1528-1167.2006.00479.x. Epilepsia. 2006. PMID: 16529633 Free article.
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, LePiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A. Annesi F, et al. Among authors: sofia v. Epilepsia. 2007 Sep;48(9):1686-1690. doi: 10.1111/j.1528-1167.2007.01173.x. Epub 2007 Jul 18. Epilepsia. 2007. PMID: 17634063 Free article.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. Arsov T, et al. Among authors: sofia v. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549341 Free PMC article.
Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.
Michelucci R, Pasini E, Malacrida S, Striano P, Bonaventura CD, Pulitano P, Bisulli F, Egeo G, Santulli L, Sofia V, Gambardella A, Elia M, de Falco A, Neve Al, Banfi P, Coppola G, Avoni P, Binelli S, Boniver C, Pisano T, Marchini M, Dazzo E, Fanciulli M, Bartolini Y, Riguzzi P, Volpi L, de Falco FA, Giallonardo AT, Mecarelli O, Striano S, Tinuper P, Nobile C. Michelucci R, et al. Among authors: sofia v. Epilepsia. 2013 Jul;54(7):1288-97. doi: 10.1111/epi.12194. Epub 2013 Apr 26. Epilepsia. 2013. PMID: 23621105 Free article.
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
Mumoli L, Tarantino P, Michelucci R, Bianchi A, Labate A, Franceschetti S, Marini C, Striano P, Gagliardi M, Ferlazzo E, Sofia V, Pennese L, Annesi G, Aguglia U, Guerrini R, Zara F, Gambardella A; Genetic Commission, Italian League Against Epilepsy. Mumoli L, et al. Among authors: sofia v. Epilepsia. 2015 Apr;56(4):e40-3. doi: 10.1111/epi.12944. Epub 2015 Mar 6. Epilepsia. 2015. PMID: 25752200 Free article.
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.
Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S. Canafoglia L, et al. Among authors: sofia v. Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26. Neurology. 2015. PMID: 26115733 Free PMC article.
101 results