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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 2
2008 3
2009 3
2010 4
2011 2
2012 7
2013 3
2014 1
2015 4
2016 3
2017 6
2018 2
2019 3
2020 6
2021 7
2022 8
2023 5
2024 4

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63 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: pisano t. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
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
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.
Epilepsy Course and Developmental Trajectories in STXBP1-DEE.
Balagura G, Xian J, Riva A, Marchese F, Ben Zeev B, Rios L, Sirsi D, Accorsi P, Amadori E, Astrea G, Baldassari S, Beccaria F, Boni A, Budetta M, Cantalupo G, Capovilla G, Cesaroni E, Chiesa V, Coppola A, Dilena R, Faggioli R, Ferrari A, Fiorini E, Madia F, Gennaro E, Giacomini T, Giordano L, Iacomino M, Lattanzi S, Marini C, Mancardi MM, Mastrangelo M, Messana T, Minetti C, Nobili L, Papa A, Parmeggiani A, Pisano T, Russo A, Salpietro V, Savasta S, Scala M, Accogli A, Scelsa B, Scudieri P, Spalice A, Specchio N, Trivisano M, Tzadok M, Valeriani M, Vari MS, Verrotti A, Vigevano F, Vignoli A, Toonen R, Zara F, Helbig I, Striano P. Balagura G, et al. Among authors: pisano t. Neurol Genet. 2022 May 31;8(3):e676. doi: 10.1212/NXG.0000000000000676. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 35655584 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
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
Suicidality in adolescents with onset of anorexia nervosa.
Mereu A, Fantoni T, Caini S, Monzali F, Roselli E, Taddei S, Lucarelli S, Pisano T. Mereu A, et al. Among authors: pisano t. Eat Weight Disord. 2022 Oct;27(7):2447-2457. doi: 10.1007/s40519-022-01384-9. Epub 2022 Mar 12. Eat Weight Disord. 2022. PMID: 35277848
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Nøstvik M, Kateta SM, Schönewolf-Greulich B, Afenjar A, Barth M, Boschann F, Doummar D, Haack TB, Keren B, Livshits LA, Mei D, Park J, Pisano T, Prouteau C, Umair M, Waqas A, Ziegler A, Guerrini R, Møller RS, Tümer Z. Nøstvik M, et al. Among authors: pisano t. Clin Genet. 2021 Nov;100(5):628-633. doi: 10.1111/cge.14051. Epub 2021 Aug 31. Clin Genet. 2021. PMID: 34415064
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denommé-Pichon AS, Keren B, Mignot C, Doco-Fenzy M, Rodan L, Ramsey K, Narayanan V, Jones JR, Prijoles EJ, Mitchell WG, Ozmore JR, Juliette K, Torti E, Normand EA, Granger L, Petersen AK, Au MG, Matheny JP, Phornphutkul C, Chambers MK, Fernández-Ramos JA, López-Laso E, Kruer MC, Bakhtiari S, Zollino M, Morleo M, Marangi G, Mei D, Pisano T, Guerrini R, Louie RJ, Childers A, Everman DB, Isidor B, Audebert-Bellanger S, Odent S, Bonneau D, Gilbert-Dussardier B, Redon R, Bézieau S, Laumonnier F, Stoeckli ET, Toutain A, Vuillaume ML. Cordovado A, et al. Among authors: pisano t. Hum Mol Genet. 2022 Sep 29;31(19):3325-3340. doi: 10.1093/hmg/ddac114. Hum Mol Genet. 2022. PMID: 35604360 Free PMC article.
63 results