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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 article.
An Initial Experience of Completion Hemispherotomy via Magnetic Resonance-Guided Laser Interstitial Therapy.
Ravindra VM, Ruggieri L, Gadgil N, Addison AP, Patino I, Gonda DD, Chu J, Whitehead L, Anderson A, Diaz-Medina G, Houck K, Katyayan A, Masters L, Nath A, Quach M, Riviello JJ, Seto E, Sully KE, Agurs L, Sen S, Handoko M, Coorg R, Ali I, Ikeda D, Weiner H, Curry DJ. Ravindra VM, et al. Among authors: sully ke. Stereotact Funct Neurosurg. 2023;101(3):179-187. doi: 10.1159/000528452. Epub 2023 Apr 14. Stereotact Funct Neurosurg. 2023. PMID: 37062282
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.
Individual Differences in the Patient Experience of Relapsing Multiple Sclerosis (RMS): A Multi-Country Qualitative Exploration of Drivers of Treatment Preferences Among People Living with RMS.
Tatlock S, Sully K, Batish A, Finbow C, Neill W, Lines C, Brennan R, Adlard N, Backhouse T. Tatlock S, et al. Among authors: sully k. Patient. 2023 Jul;16(4):345-357. doi: 10.1007/s40271-023-00617-y. Epub 2023 Apr 5. Patient. 2023. PMID: 37017920 Free PMC article.
Epilepsy Surgery in Young Children With Tuberous Sclerosis Complex: A Novel Hybrid Multimodal Surgical Approach.
Ravindra VM, Karas PJ, Lazaro TT, Coorg R, Awad AW, Patino I, McClernon EE, Clarke D, Cairampoma Whitehead L, Anderson A, Diaz-Medina G, Houck K, Katyayan A, Masters L, Nath A, Quach M, Riviello J, Seto ES, Sully K, Agurs L, Sen S, Handoko M, LoPresti M, Ali I, Curry DJ, Weiner HL. Ravindra VM, et al. Among authors: sully k. Neurosurgery. 2023 Feb 1;92(2):398-406. doi: 10.1227/neu.0000000000002214. Epub 2022 Nov 10. Neurosurgery. 2023. PMID: 36637274
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.
People living with moderate-to-severe COPD prefer improvement of daily symptoms over the improvement of exacerbations: a multicountry patient preference study.
Cook NS, Criner GJ, Burgel PR, Mycock K, Gardner T, Mellor P, Hallworth P, Sully K, Tatlock S, Klein B, Jones B, Le Rouzic O, Adams K, Phillips K, McKevitt M, Toyama K, Gutzwiller FS. Cook NS, et al. Among authors: sully k. ERJ Open Res. 2022 Jun 13;8(2):00686-2021. doi: 10.1183/23120541.00686-2021. eCollection 2022 Apr. ERJ Open Res. 2022. PMID: 35734770 Free PMC article.
37 results