Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson’s disease
Burbulla, Lena F., Song, Pingping, Mazzulli, Joseph R., Zampese, Enrico, Wong, Yvette C., Jeon, Sohee, Santos, David P., Blanz, Judith, Obermaier, Carolin D., Strojny, Chelsee, Savas, Jeffrey N., Kiskinis, Evangelos, Zhuang, Xiaoxi, Krüger, Rejko, Surmeier, D. James, Krainc, Dimitri
Published in Science (American Association for the Advancement of Science) (22.09.2017)
Published in Science (American Association for the Advancement of Science) (22.09.2017)
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Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period
Weisschuh, Nicole, Obermaier, Carolin D., Battke, Florian, Bernd, Antje, Kuehlewein, Laura, Nasser, Fadi, Zobor, Ditta, Zrenner, Eberhart, Weber, Eva, Wissinger, Bernd, Biskup, Saskia, Stingl, Katarina, Kohl, Susanne
Published in Human mutation (01.09.2020)
Published in Human mutation (01.09.2020)
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Journal Article
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease
Boussaad, Ibrahim, Obermaier, Carolin D, Hanss, Zoé, Bobbili, Dheeraj R, Bolognin, Silvia, Glaab, Enrico, Wołyńska, Katarzyna, Weisschuh, Nicole, De Conti, Laura, May, Caroline, Giesert, Florian, Grossmann, Dajana, Lambert, Annika, Kirchen, Susanne, Biryukov, Maria, Burbulla, Lena F, Massart, Francois, Bohler, Jill, Cruciani, Gérald, Schmid, Benjamin, Kurz-Drexler, Annerose, May, Patrick, Duga, Stefano, Klein, Christine, Schwamborn, Jens C, Marcus, Katrin, Woitalla, Dirk, Vogt Weisenhorn, Daniela M, Wurst, Wolfgang, Baralle, Marco, Krainc, Dimitri, Gasser, Thomas, Wissinger, Bernd, Krüger, Rejko
Published in Science translational medicine (09.09.2020)
Published in Science translational medicine (09.09.2020)
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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Zeitz, Christina, Obermaier, Carolin D., Devos, Aurore, Pelletier, Valérie, Bocquet, Béatrice, Andrieu, Camille, Bacquet, Jean-Louis, Lebredonchel, Elodie, Mohand-Saïd, Saddek, Defoort-Dhellemmes, Sabine, Sahel, José-Alain, Dollfus, Hélène, Zanlonghi, Xavier, Audo, Isabelle, Meunier, Isabelle, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie
Published in International journal of molecular sciences (15.06.2021)
Published in International journal of molecular sciences (15.06.2021)
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Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
Dohrn, Maike F, Heller, Corina, Zengeler, Diana, Obermaier, Carolin D, Biskup, Saskia, Weis, Joachim, Nikolin, Stefan, Claeys, Kristl G, Schöne, Ulrike, Beijer, Danique, Winter, Natalie, Achenbach, Pascal, Gess, Burkhard, Schulz, Jörg B, Mulahasanovic, Lejla
Published in Neurological research and practice (01.02.2022)
Published in Neurological research and practice (01.02.2022)
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Journal Article
Novel mutations in the GJC2 gene associated with Pelizaeus–Merzbacher-like disease
Owczarek-Lipska, Marta, Mulahasanovic, Lejla, Obermaier, Carolin D., Hörtnagel, Konstanze, Neubauer, Bernd A., Korenke, Georg-Christoph, Biskup, Saskia, Neidhardt, John
Published in Molecular biology reports (01.08.2019)
Published in Molecular biology reports (01.08.2019)
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Journal Article
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Carstens, Per-Ole, Schwaibold, Eva Maria Christina, Schregel, Katharina, Obermaier, Carolin D, Wrede, Arne, Zechel, Sabrina, Pauli, Silke, Schmidt, Jens
Published in Neurology. Genetics (01.06.2019)
Published in Neurology. Genetics (01.06.2019)
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