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Year Number of Results
2007 1
2008 1
2014 1
2015 2
2016 1
2017 1
2018 4
2020 1
2022 5
2023 2
2024 0

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17 results

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Page 1
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: vittorini r. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Matricardi S, Cestèle S, Trivisano M, Kassabian B, Leroudier N, Vittorini R, Nosadini M, Cesaroni E, Siliquini S, Marinaccio C, Longaretti F, Podestà B, Operto FF, Luisi C, Sartori S, Boniver C, Specchio N, Vigevano F, Marini C, Mantegazza M. Matricardi S, et al. Among authors: vittorini r. Epilepsia. 2023 May;64(5):1331-1347. doi: 10.1111/epi.17509. Epub 2023 Jan 26. Epilepsia. 2023. PMID: 36636894 Review.
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: vittorini r. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
KETASER01 protocol: What went right and what went wrong.
Rosati A, L'Erario M, Bianchi R, Olivotto S, Battaglia DI, Darra F, Biban P, Biggeri A, Catelan D, Danieli G, Mondardini MC, Cordelli DM, Amigoni A, Cesaroni E, Conio A, Costa P, Lombardini M, Meleleo R, Pugi A, Tornaboni EE, Santarone ME, Vittorini R, Sartori S, Marini C, Vigevano F, Mastrangelo M, Pulitanò SM, Izzo F, Fusco L. Rosati A, et al. Among authors: vittorini r. Epilepsia Open. 2022 Sep;7(3):532-540. doi: 10.1002/epi4.12627. Epub 2022 Jul 25. Epilepsia Open. 2022. PMID: 35833327 Free PMC article.
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Davico C, D'Alessandro R, Borgogno M, Campagna F, Torta F, Ricci F, Amianto F, Vittorini R, Carli D, Mussa A, Vitiello B, Ferrero GB. Davico C, et al. Among authors: vittorini r. Eur J Pediatr. 2022 Aug;181(8):2919-2926. doi: 10.1007/s00431-022-04497-6. Epub 2022 May 16. Eur J Pediatr. 2022. PMID: 35575813
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Hamilton EMC, et al. Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21. Neurology. 2018. PMID: 29661901 Free PMC article.
17 results