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Year Number of Results
2003 1
2009 1
2010 2
2011 1
2012 1
2013 1
2014 2
2015 2
2016 7
2018 4
2019 3
2020 1
2021 3
2022 4
2023 7
2024 3
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39 results

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Page 1
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S. Brunklaus A, et al. Among authors: sully k. Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210. Brain. 2022. PMID: 35696452 Free PMC article.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: sully k. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free PMC article.
Shared and distinct alterations in brain structure of youth with internalizing or externalizing disorders: Findings from the ENIGMA Antisocial Behavior, ADHD, MDD, and Anxiety Working Groups.
Townend S, Staginnus M, Gao Y, Alexander N, Arolt V, Banaschewski T, Bellgrove MA, Benegal V, Blair RJ, Blanco-Hinojo L, Boeken OJ, Böhnlein J, Bölte S, Bonnekoh LM, Brandeis D, Bressan RA, Breuer F, Bruin WB, Buitelaar JK, Burkhouse KL, Calkins ME, Cano M, Cardoner N, Chen H, Chen X, Coghill DR, Colins OF, Connolly CG, Craig MC, Cullen KR, Dannlowski U, Davey CG, Dietrich A, Dong D, Freitag CM, Frodl T, Goossens L, Grotegerd D, Gur RE, Gur RC, Haavik J, Hagan CC, Hahn T, Hamm AO, Harrison BJ, Hartman CA, Herrmann MJ, Ho TC, Hoekstra PJ, Holla B, Ibrahim K, Jackowski A, Jamalabadi H, Jiang Y, Kircher T, Konrad K, Kraus A, Kuntsi J, Langhammer T, Lazaro L, Leehr EJ, Lueken U, Ma R, MacMaster FP, Manfro GG, Martinelli A, Meinert H, Meinert S, Michałowski JM, Ming Q, Moeck R, Mujica-Parodi LR, Mwangi B, Neufeld J, Nigg JT, O'Gorman Tuura RL, Oh H, Oosterlaan J, Paloyelis Y, Pan PM, Passamonti L, Peñate W, Phan KL, Plessen KJ, Pujol J, Remnélius KL, Rivero F, Rubia K, Salas R, Salum GA, Satterthwaite TD, Schienle A, Schrammen E, Schruers KRJ, Schumann G, Sethi A, Silk T, Skokauskas N, Smoller J, Soares JC, Sørensen L, Stadler C, Stevens MC, Straube B, Straube T, Ströhle A, Sudre G, Su… See abstract for full author list ➔ Townend S, et al. Among authors: sully k. Biol Psychiatry. 2025 Aug 12:S0006-3223(25)01405-2. doi: 10.1016/j.biopsych.2025.08.003. Online ahead of print. Biol Psychiatry. 2025. PMID: 40812743 Free article.
Psychometric validation of the Ostomy Skin Tool 2.0.
Jemec G, Herschend NO, Hansen HD, Findley A, Williams A, Sully K, Karlsmark T, Størling Z. Jemec G, et al. Among authors: sully k. PeerJ. 2023 Dec 18;11:e16685. doi: 10.7717/peerj.16685. eCollection 2023. PeerJ. 2023. PMID: 38130931 Free PMC article. Clinical Trial.
A qualitative study to explore the symptoms and impacts of Crohn's disease and to develop the Crohn's Disease Diary.
Williams-Hall R, Trennery C, Sully K, Wratten S, Francis A, Chandler D, Flynn J, Turner M, Marks DJB, Sackeyfio A, Bracher M, Walker A, Walker-Nthenda L, Arbuckle R, Keeley T. Williams-Hall R, et al. Among authors: sully k. Qual Life Res. 2023 Jan;32(1):209-223. doi: 10.1007/s11136-022-03233-9. Epub 2022 Sep 2. Qual Life Res. 2023. PMID: 36056191 Free PMC article. Review.
Constitutive Autophagy and Nucleophagy during Epidermal Differentiation.
Akinduro O, Sully K, Patel A, Robinson DJ, Chikh A, McPhail G, Braun KM, Philpott MP, Harwood CA, Byrne C, O'Shaughnessy RFL, Bergamaschi D. Akinduro O, et al. Among authors: sully k. J Invest Dermatol. 2016 Jul;136(7):1460-1470. doi: 10.1016/j.jid.2016.03.016. Epub 2016 Mar 25. J Invest Dermatol. 2016. PMID: 27021405 Free article.
39 results