Search Results - Obermaier, Carolin D

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  1. 1
    Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson’s disease

    Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson’s disease by 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

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  2. 2
    A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease

    A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease by 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

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  3. 3
    Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

    Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy by 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

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  4. 4
    Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

    Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers by 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

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  5. 5
    Novel mutations in the GJC2 gene associated with Pelizaeus–Merzbacher-like disease

    Novel mutations in the GJC2 gene associated with Pelizaeus–Merzbacher-like disease by Owczarek-Lipska, Marta, Mulahasanovic, Lejla, Obermaier, Carolin D., Hörtnagel, Konstanze, Neubauer, Bernd A., Korenke, Georg-Christoph, Biskup, Saskia, Neidhardt, John

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  6. 6
    X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

    X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype? by Carstens, Per-Ole, Schwaibold, Eva Maria Christina, Schregel, Katharina, Obermaier, Carolin D, Wrede, Arne, Zechel, Sabrina, Pauli, Silke, Schmidt, Jens

    Published in Neurology. Genetics
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