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229 results

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Page 1
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: gellera c. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. J Med Genet. 2024 Dec 22:jmg-2024-110328. doi: 10.1136/jmg-2024-110328. Online ahead of print. J Med Genet. 2024. PMID: 39613335 Free article.
Paroxysmal movement disorders in GLUT1 deficiency syndrome.
Zorzi G, Castellotti B, Zibordi F, Gellera C, Nardocci N. Zorzi G, et al. Among authors: gellera c. Neurology. 2008 Jul 8;71(2):146-8. doi: 10.1212/01.wnl.0000316804.10020.ba. Neurology. 2008. PMID: 18606970 No abstract available.
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Castellotti B, Ragona F, Freri E, Solazzi R, Ciardullo S, Tricomi G, Venerando A, Salis B, Canafoglia L, Villani F, Franceschetti S, Nardocci N, Gellera C, DiFrancesco JC, Granata T. Castellotti B, et al. Among authors: gellera c. J Neurol. 2019 Jun;266(6):1439-1448. doi: 10.1007/s00415-019-09280-6. Epub 2019 Mar 20. J Neurol. 2019. PMID: 30895386
229 results