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by Capper, David and Jones, David T. W and Sill, Martin and Hovestadt, Volker and Schrimpf, Daniel and Sturm, Dominik and Koelsche, Christian and Sahm, Felix and Chavez, Lukas and Reuss, David E and Kratz, Annekathrin and Wefers, Annika K and Huang, Kristin and Pajtler, Kristian W and Schweizer, Leonille and Stichel, Damian and Olar, Adriana and Engel, Nils W and Lindenberg, Kerstin and Harter, Patrick N and Braczynski, Anne K and Plate, Karl H and Dohmen, Hildegard and Garvalov, Boyan K and Coras, Roland and Hölsken, Annett and Hewer, Ekkehard and Bewerunge-Hudler, Melanie and Schick, Matthias and Fischer, Roger and Beschorner, Rudi and Schittenhelm, Jens and Staszewski, Ori and Wani, Khalida and Varlet, Pascale and Pages, Melanie and Temming, Petra and Lohmann, Dietmar and Selt, Florian and Witt, Hendrik and Milde, Till and Witt, Olaf and Aronica, Eleonora and Giangaspero, Felice and Rushing, Elisabeth and Scheurlen, Wolfram and Geisenberger, Christoph and Rodriguez, Fausto J and Becker, Albert and Preusser, Matthias and Haberler, Christine and Bjerkvig, Rolf and Cryan, Jane and Farrell, Michael and Deckert, Martina and Hench, Jürgen and Frank, Stephan and Serrano, Jonathan and Kannan, Kasthuri and Tsirigos, Aristotelis and Brück, Wolfgang and Hofer, Silvia and Brehmer, Stefanie and Seiz-Rosenhagen, Marcel and Hänggi, Daniel and Hans, Volkmar and Rozsnoki, Stephanie and Hansford, Jordan R and Kohlhof, Patricia and Kristensen, Bjarne W and Lechner, Matt and Lopes, Beatriz and Mawrin, Christian and Ketter, Ralf and Kulozik, Andreas and Khatib, Ziad and Heppner, Frank and Koch, Arend and Jouvet, Anne and Keohane, Catherine and Mühleisen, Helmut and Mueller, Wolf and Pohl, Ute and Prinz, Marco and Benner, Axel and Zapatka, Marc and Gottardo, Nicholas G and Driever, Pablo Hernáiz and Kramm, Christof M and Müller, Hermann L and Rutkowski, Stefan and Von Hoff, Katja and Frühwald, Michael C and Gnekow, Astrid and Fleischhack, Gudrun and Tippelt, Stephan and Calaminus, Gabriele and Monoranu, Camelia-Maria and Perry, Arie and Jones, Chris and ...
Nature, ISSN 0028-0836, 03/2018, Volume 555, Issue 7697, pp. 469 - 474
Journal Article
Scientific Reports, ISSN 2045-2322, 09/2016, Volume 6, Issue 1, p. 32156
Brain tissue evaluation is essential for gaining in-depth insight into its diseases and disorders. Imaging the human brain in three dimensions has always been... 
DENSITY | EXTRACTION | PHASE-CONTRAST | MULTIDISCIPLINARY SCIENCES | NEURONS | SEGMENTATION | HUMAN CEREBELLUM | Cerebellum | Neuroimaging | Nucleoli | Medical imaging | Segmentation | Biopsy | Purkinje cells | Spatial discrimination
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2013, Volume 110, Issue 23, pp. 9535 - 9540
Journal Article
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 08/2013, Volume 110, Issue 32, pp. E2967 - E2976
Mitochondrial morphology changes in response to various stimuli but the significance of this is unclear. In a screen for mutants with abnormal mitochondrial... 
Cytochrome c oxidase deficiency neurodegeneration | Mitochondrial dynamics | OXIDATIVE-PHOSPHORYLATION | FUSION | MEMBRANE | MULTIDISCIPLINARY SCIENCES | POLYADENYLATION | cytochrome c oxidase deficiency neurodegeneration | DEFICIENCY | mitochondrial dynamics | PROTEIN CED-9 | CELL-DEATH | CYTOCHROME-C-OXIDASE | CAENORHABDITIS-ELEGANS | FISSION | Humans | Caenorhabditis elegans Proteins - metabolism | Green Fluorescent Proteins - genetics | Leigh Disease - metabolism | Mitochondrial Proteins - genetics | Neoplasm Proteins - metabolism | Leigh Disease - pathology | Electron Transport Complex IV - metabolism | DNA-Binding Proteins - metabolism | Mitochondria - genetics | RNA Interference | Mitochondrial Proteins - metabolism | Adenosine Triphosphate - metabolism | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Cell Line | Green Fluorescent Proteins - metabolism | Caenorhabditis elegans - metabolism | Animals, Genetically Modified | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mitochondria - metabolism | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Leigh Disease - genetics | Blotting, Western | Transcription Factors - metabolism | Animals | GTP Phosphohydrolases - metabolism | GTP Phosphohydrolases - genetics | Cell Line, Tumor | Caenorhabditis elegans Proteins - genetics | Microscopy, Fluorescence | Biological Sciences | PNAS Plus
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, p. e59493
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 5, pp. 730 - 737
The monogenic etiology of most severe fetal anomaly syndromes is poorly understood. Our objective was to use exome sequencing (ES) to increase our knowledge on... 
INTELLECTUAL DISABILITY | DIAGNOSIS | DEFECTS | PROTEIN | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MUTATIONS | FETUSES | KIF4 | Genotype & phenotype | Phenotypes | Etiology | Fetuses | Phenotyping | Ryanodine receptors | Otx2 protein | Smad3 protein | Genotypes | Fibroblast growth factor receptor 2 | Rare species
Journal Article
Journal for ImmunoTherapy of Cancer, ISSN 2051-1426, 06/2017, Volume 5, Issue 1, pp. 46 - 6
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, p. e0154280
Endoplasmic reticulum (ER)-mitochondrial contact sites play a pivotal role in exchange of lipids and ions between the two organelles. How size and function of... 
Mitochondrial Dynamics | RNA, Small Interfering - genetics | Dynamins - metabolism | Saccharomyces cerevisiae - genetics | Vesicular Transport Proteins - metabolism | Humans | Caenorhabditis elegans Proteins - metabolism | Endoplasmic Reticulum - metabolism | Saccharomyces cerevisiae - ultrastructure | GTP Phosphohydrolases - antagonists & inhibitors | Mitochondria - ultrastructure | Endoplasmic Reticulum - ultrastructure | Saccharomyces cerevisiae - metabolism | Endoplasmic Reticulum - chemistry | Vesicular Transport Proteins - antagonists & inhibitors | Conserved Sequence | Ion Transport | Mitochondria - chemistry | Caenorhabditis elegans - metabolism | Signal Transduction | Caenorhabditis elegans - genetics | Saccharomyces cerevisiae Proteins - antagonists & inhibitors | Vesicular Transport Proteins - genetics | Gene Expression Regulation | Dynamins - genetics | Lipid Metabolism | Mitochondria - metabolism | Monomeric GTP-Binding Proteins - genetics | Saccharomyces cerevisiae Proteins - genetics | Intracellular Membranes - chemistry | Monomeric GTP-Binding Proteins - antagonists & inhibitors | Animals | GTP Phosphohydrolases - metabolism | Caenorhabditis elegans Proteins - antagonists & inhibitors | Monomeric GTP-Binding Proteins - metabolism | GTP Phosphohydrolases - genetics | Saccharomyces cerevisiae Proteins - metabolism | HeLa Cells | Mutation | Caenorhabditis elegans Proteins - genetics | Intracellular Membranes - metabolism | Amino Acid Substitution | RNA, Small Interfering - metabolism | Physiological aspects | Mitochondria | Genetic aspects | Research | Endoplasmic reticulum | Temperature | Neuropathology | Glycerol | Tubules | Lipids | Biosynthesis | Biology | Gene expression | Organelles | Proteins | Clonal deletion | Morphology | Dynamin | Nematodes | Deletion | Cleavage | Curvature | Guanosinetriphosphatase
Journal Article
Journal Article