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2012 1
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2014 3
2015 2
2024 0

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Page 1
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiöld S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA. Stödberg T, et al. Nat Commun. 2015 Sep 3;6:8038. doi: 10.1038/ncomms9038. Nat Commun. 2015. PMID: 26333769 Free PMC article.
Perinatal systemic gene delivery using adeno-associated viral vectors.
Karda R, Buckley SM, Mattar CN, Ng J, Massaro G, Hughes MP, Kurian MA, Baruteau J, Gissen P, Chan JK, Bacchelli C, Waddington SN, Rahim AA. Karda R, et al. Front Mol Neurosci. 2014 Nov 14;7:89. doi: 10.3389/fnmol.2014.00089. eCollection 2014. Front Mol Neurosci. 2014. PMID: 25452713 Free PMC article. Review.
Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay.
Lordkipanidzé M, Lowe GC, Kirkby NS, Chan MV, Lundberg MH, Morgan NV, Bem D, Nisar SP, Leo VC, Jones ML, Mundell SJ, Daly ME, Mumford AD, Warner TD, Watson SP; UK Genotyping and Phenotyping of Platelets Study Group. Lordkipanidzé M, et al. Blood. 2014 Feb 20;123(8):e11-22. doi: 10.1182/blood-2013-08-520387. Epub 2014 Jan 9. Blood. 2014. PMID: 24408324 Free PMC article.
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P. Smith H, et al. Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6. Hum Mutat. 2012. PMID: 22753090 Free PMC article.