 | Up a level |
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
Kreis, Roland; Wingeier, Kevin; Vermathen, Peter; Giger, Elisabeth; Joncourt, Franziska; Zwygart, Karin; Kaufmann, Franz; Boesch, Chris; Steinlin, Maja (2011). Brain metabolite composition in relation to cognitive function and dystrophin mutations in boys with Duchenne muscular dystrophy. NMR in biomedicine, 24(3), pp. 253-62. London: Wiley Interscience 10.1002/nbm.1582
Wingeier, Kevin; Giger, Elisabeth; Strozzi, Susi; Kreis, Roland; Joncourt, Franziska; Conrad, Bernard; Gallati, Sabina; Steinlin, Maja (2011). Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy. Journal of clinical neuroscience, 18(1), pp. 90-5. Amsterdam: Elsevier 10.1016/j.jocn.2010.07.118
Niedrist, D; Joncourt, F; Mátyás, G; Müller, A (2009). Severe phenotype with cis-acting heterozygous PMP22 mutations. Clinical genetics, 75(3), pp. 286-9. Oxford: Wiley-Blackwell 10.1111/j.1399-0004.2008.01120.x
Schneider, Mircea; Joncourt, Franziska; Sanz, Javier; von Känel, Thomas; Gallati, Sabina (2006). Detection of exon deletions within an entire gene (CFTR) by relative quantification on the LightCycler. Clinical chemistry, 52(11), pp. 2005-12. Washington, D.C.: American Association for Clinical Chemistry 10.1373/clinchem.2005.065136
