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Page 1
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.
Varesio C, De Giorgis V, Veggiotti P, Nardocci N, Granata T, Ragona F, Pasca L, Mensi MM, Borgatti R, Olivotto S, Previtali R, Riva A, Mancardi MM, Striano P, Cavallin M, Guerrini R, Operto FF, Pizzolato A, Di Maulo R, Martino F, Lodi A, Marini C. Varesio C, et al. Among authors: veggiotti p. Orphanet J Rare Dis. 2023 Mar 21;18(1):63. doi: 10.1186/s13023-023-02628-2. Orphanet J Rare Dis. 2023. PMID: 36944981 Free PMC article.
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Bonanni P, et al. Among authors: veggiotti p. Epilepsia. 2004 Feb;45(2):149-58. doi: 10.1111/j.0013-9580.2004.04303.x. Epilepsia. 2004. PMID: 14738422 Free article.
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F. Gennaro E, et al. Among authors: veggiotti p. Biochem Biophys Res Commun. 2006 Mar 10;341(2):489-93. doi: 10.1016/j.bbrc.2005.12.209. Epub 2006 Jan 13. Biochem Biophys Res Commun. 2006. PMID: 16430863
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: veggiotti p. Epilepsia. 2006 Mar;47(3):640-3. doi: 10.1111/j.1528-1167.2006.00479.x. Epilepsia. 2006. PMID: 16529633 Free article.
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. Mancardi MM, et al. Among authors: veggiotti p. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.
238 results