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Year Number of Results
1987 1
2005 2
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2007 1
2008 4
2009 4
2010 8
2011 7
2012 7
2013 4
2014 1
2015 4
2016 3
2017 6
2018 3
2019 3
2020 10
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2025 8

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103 results

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Page 1
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: pisano t. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
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: pisano t. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
Gasparini S, Balestrini S, Saccaro LF, Bacci G, Panichella G, Montomoli M, Cantalupo G, Bigoni S, Mancano G, Pellacani S, Leuzzi V, Volpi N, Mari F, Melani F, Cavallin M, Pisano T, Porcedda G, Vaglio A, Mei D, Barba C, Parrini E, Guerrini R. Gasparini S, et al. Among authors: pisano t. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32099. doi: 10.1002/ajmg.c.32099. Epub 2024 Jul 17. Am J Med Genet C Semin Med Genet. 2024. PMID: 39016117
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Among authors: pisano t. Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491959
COVID-19 Pandemic School Disruptions and Acute Mental Health in Children and Adolescents.
Davico C, Marcotulli D, Abbracciavento G, Anfosso T, Apicella M, Averna R, Bazzoni M, Calderoni D, Cammisa L, Carta A, Carucci S, Cozzi G, Di Santo F, Fazzi E, Lux C, Narducci C, Nobili L, Onida I, Pisano T, Raucci U, Sforzi I, Siri L, Sotgiu S, Tavano S, Terrinoni A, Uccella S, Vicari S, Zanus C, Vitiello B; Italian Covid-Child and Adolescent Psychiatric Emergencies Study Group. Davico C, et al. Among authors: pisano t. JAMA Netw Open. 2024 Aug 1;7(8):e2425829. doi: 10.1001/jamanetworkopen.2024.25829. JAMA Netw Open. 2024. PMID: 39102265 Free PMC article.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
De Maria B, Balestrini S, Mei D, Melani F, Pellacani S, Pisano T, Rosati A, Scaturro GM, Giordano L, Cantalupo G, Fontana E, Zammarchi C, Said E, Leuzzi V, Mastrangelo M, Galosi S, Parrini E, Guerrini R. De Maria B, et al. Among authors: pisano t. Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29. Am J Med Genet A. 2022. PMID: 34713950
[Burning mouth syndrome].
Scardina GA, Pisano T, Messina P. Scardina GA, et al. Among authors: pisano t. Recenti Prog Med. 2007 Feb;98(2):120-8. Recenti Prog Med. 2007. PMID: 17439072 Review. Italian.
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.
Barbato A, Gori G, Sacchini M, Pochiero F, Bargiacchi S, Traficante G, Palazzo V, Tiberi L, Bianchini C, Mei D, Parrini E, Pisano T, Procopio E, Guerrini R, Peron A, Stagi S. Barbato A, et al. Among authors: pisano t. Endocr Connect. 2024 Sep 28;13(10):e240221. doi: 10.1530/EC-24-0221. Print 2024 Oct 1. Endocr Connect. 2024. PMID: 39214134 Free PMC article.
Idiopathic focal epilepsies: the "lost tribe".
Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M. Pal DK, et al. Among authors: pisano t. Epileptic Disord. 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. Epileptic Disord. 2016. PMID: 27435520 Review. English.
103 results