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Amini, Poorya; Stojkov, Darko; Felser, Andrea; Jackson, Christopher B; Courage, Carolina; Schaller, André; Gelman, Laurent; Soriano, Maria Eugenia; Nuoffer, Jean-Marc; Scorrano, Luca; Benarafa, Charaf; Yousefi, Shida; Simon, Hans-Uwe (2018). Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production. Nature communications, 9(1), p. 2958. Nature Publishing Group 10.1038/s41467-018-05387-y
Hofstaetter, Cornelia; Courage, Carolina; Bartholdi, Deborah; Biskup, Saskia; Raio, Luigi (2018). Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. Clinical case reports, 6(2), pp. 420-425. Wiley 10.1002/ccr3.1368
Courage, Carolina; Jackson, Christopher; Hahn, Dagmar; Euro, Liliya; Nuoffer, Jean-Marc; Gallati, Sabina; Schaller, André (2017). SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. American journal of medical genetics. Part A, 173(1), pp. 225-230. Wiley-Liss 10.1002/ajmg.a.37986
Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457
Courage, Carolina; Houge, Gunnar; Gallati, Sabina; Schjelderup, Jack; Rieubland, Claudine (2014). 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. European journal of medical genetics, 57(9), pp. 520-523. Elsevier 10.1016/j.ejmg.2014.06.003
Lemke, Johannes R; Riesch, Erik; Scheurenbrand, Tim; Schubach, Max; Wilhelm, Christian; Steiner, Isabelle; Hansen, Jörg; Courage, Carolina; Gallati, Sabina; Bürki, Sarah; Strozzi, Susi; Simonetti, Barbara Goeggel; Grunt, Sebastian; Steinlin, Maja; Alber, Michael; Wolff, Markus; Klopstock, Thomas; Prott, Eva C; Lorenz, Rüdiger; Spaich, Christiane; ... (2012). Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia, 53(8), pp. 1387-98. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03516.x
Goeggel Simonetti, Barbara; Rieubland, Claudine; Courage, Carolina; Strozzi, Susi; Tschumi, Sibylle; Gallati, Sabina; Lemke, Johannes R (2012). Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. Epilepsia, 53(12), pp. 2128-34. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03676.x
