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Year Number of Results
2008 1
2009 2
2010 1
2011 1
2020 1
2021 1
2023 1
2024 3

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11 results

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Page 1
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators. Vetro A, et al. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. Brain. 2021. PMID: 33880529
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: cavalli a. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C. Cavirani B, et al. Among authors: cavalli a. Int J Mol Sci. 2024 Jan 19;25(2):1248. doi: 10.3390/ijms25021248. Int J Mol Sci. 2024. PMID: 38279250 Free PMC article.
Programme activities: a major burden for district health systems?
Coulibaly Y, Cavalli A, van Dormael M, Polman K, Kegels G. Coulibaly Y, et al. Among authors: cavalli a. Trop Med Int Health. 2008 Dec;13(12):1430-2. doi: 10.1111/j.1365-3156.2008.02174.x. Epub 2008 Oct 22. Trop Med Int Health. 2008. PMID: 18983273 Free article. No abstract available.
Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsy.
Barba C, Montanaro D, Grisotto L, Frijia F, Pellacani S, Cavalli A, Rizzi S, Lenge M, Aghakhanyan G, Sibilia V, Giordano F, Pisano T, Mari F, Melani F, Cherubini A, Buccoliero A, Caligiuri ME, Guerrini R. Barba C, et al. Among authors: cavalli a. PLoS One. 2020 Sep 8;15(9):e0238389. doi: 10.1371/journal.pone.0238389. eCollection 2020. PLoS One. 2020. PMID: 32898166 Free PMC article.
Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
Cesaroni CA, Contrò G, Spagnoli C, Cancelliere F, Caraffi SG, Leon A, Stefanini C, Frattini D, Rizzi S, Cavalli A, Garavelli L, Fusco C. Cesaroni CA, et al. Among authors: cavalli a. Neurogenetics. 2024 Apr 23. doi: 10.1007/s10048-024-00760-0. Online ahead of print. Neurogenetics. 2024. PMID: 38652341
An assessment of interactions between global health initiatives and country health systems.
World Health Organization Maximizing Positive Synergies Collaborative Group; Samb B, Evans T, Dybul M, Atun R, Moatti JP, Nishtar S, Wright A, Celletti F, Hsu J, Kim JY, Brugha R, Russell A, Etienne C. World Health Organization Maximizing Positive Synergies Collaborative Group, et al. Lancet. 2009 Jun 20;373(9681):2137-69. doi: 10.1016/S0140-6736(09)60919-3. Lancet. 2009. PMID: 19541040
11 results