Joncourt, Franziska

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Journal Article

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

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

Ramelli, Gian Paolo; Joncourt, Franziska; Gasperini, Marcella; Tonin, Paola; Burgunder, Jean Marc (2006). Rather mild phenotype in a patient with homozygous null mutations in the alpha-sarcoglycan gene. Swiss medical weekly, 136(5-6), pp. 96-7. Muttenz: EMH Schweizerischer Ärzteverlag

Chen, Lie; Schaerer, Martin; Lu, Zen H; Lang, Doris; Joncourt, Franziska; Weis, Joachim; Fritschi, Juerg; Kappeler, Lilianne; Gallati, Sabina; Sigel, Erwin; Burgunder, Jean-Marc (2004). Exon 17 skipping in CLCN1 leads to recessive myotonia congenita. Muscle & nerve, 29(5), pp. 670-6. New York, N.Y.: John Wiley & Sons 10.1002/mus.20005

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