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Bladen, Catherine L; Salgado, David; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C; ... (2015). The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human mutation, 36(4), pp. 395-402. Wiley-Blackwell 10.1002/humu.22758
Spatola, Marianna; Jeannet, Pierre-Yves; Pollo, Claudio; Wider, Christian; Labrum, Robyn; Rossetti, Andrea O (2013). Effect of vagus nerve stimulation in an adult patient with Dravet syndrome: contribution to sudden unexpected death in epilepsy risk reduction? European neurology, 69(2), pp. 119-21. Basel: Karger 10.1159/000345132
Anderson, Beverley H; Kasher, Paul R; Mayer, Josephine; Szynkiewicz, Marcin; Jenkinson, Emma M; Bhaskar, Sanjeev S; Urquhart, Jill E; Daly, Sarah B; Dickerson, Jonathan E; O'Sullivan, James; Leibundgut, Elisabeth Oppliger; Muter, Joanne; Abdel-Salem, Ghada M H; Babul-Hirji, Riyana; Baxter, Peter; Berger, Andrea; Bonafé, Luisa; Brunstom-Hernandez, Janice E; Buckard, Johannes A; Chitayat, David; ... (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature genetics, 44(3), pp. 338-42. New York, N.Y.: Nature America 10.1038/ng.1084
Bigi, Sandra; Fischer, Urs; Wehrli, Edith; Mattle, Heinrich P; Boltshauser, Eugen; Bürki, Sarah; Jeannet, Pierre-Yves; Fluss, Joel; Weber, Peter; Nedeltchev, Krassen; El-Koussy, Marwan; Steinlin, Maja; Arnold, Marcel (2011). Acute ischemic stroke in children versus young adults. Annals of neurology, 70(2), pp. 245-54. Hoboken, N.J.: Wiley-Blackwell 10.1002/ana.22427
Buerki, Sarah; Roellin, Katja; Remonda, Luca; Mercati, Danielle Gubser; Jeannet, Pierre-Yves; Keller, Elmar; Luetschg, Juerg; Menache, Caroline; Ramelli, Gian Paolo; Schmitt-Mechelke, Thomas; Weissert, Markus; Boltshauser, Eugen; Steinlin, Maja (2010). Neuroimaging in childhood arterial ischaemic stroke: evaluation of imaging modalities and aetiologies. Developmental medicine and child neurology, 52(11), pp. 1033-1037. Oxford: Blackwell 10.1111/j.1469-8749.2010.03685.x
Degueldre, Sabrina C; Chockalingam, Priya; Mivelaz, Yvan; Di Bernardo, Stefano; Pfammatter, Jean-Pierre; Barrea, Catherine; Sekarski, Nicole; Jeannet, Pierre-Yves; Fouron, Jean-Claude; Vial, Yvan; Meijboom, Erik J (2010). Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes. Cardiology in the young, 20(1), pp. 18-24. Cambridge: Cambridge University Press 10.1017/S1047951109992046
Ballhausen, Diana; Guerry, Frédéric; Hahn, Dagmar; Schaller, André; Nuoffer, Jean-Marc; Bonafé, Luisa; Jeannet, Pierre-Yves; Jacquemont, Sebastien (2010). Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. Journal of inherited metabolic disease, 33 Suppl 3, S219-S226. Lancaster, UK: Springer
Grunt, Sebastian; Wingeier, Kevin; Wehrli, Edith; Boltshauser, Eugen; Capone, Andrea; Fluss, Joel; Gubser-Mercati, Danielle; Jeannet, Pierre-Yves; Keller, Elmar; Marcoz, Jean-Pierre; Schmitt-Mechelke, Thomas; Weber, Peter; Weissert, Markus; Steinlin, Maja; Swiss Neuropaediatric Stroke Registry, (2010). Cerebral sinus venous thrombosis in Swiss children. Developmental medicine and child neurology, 52(12), pp. 1145-50. Oxford: Blackwell 10.1111/j.1469-8749.2010.03722.x
