Standardized, Systemic Phenotypic Analysis of UmodC93F and UmodA227T Mutant Mice
Kemter, Elisabeth, Prückl, Petra, Rathkolb, Birgit, Micklich, Kateryna, Adler, Thure, Becker, Lore, Beckers, Johannes, Busch, Dirk H., Götz, Alexander A., Hans, Wolfgang, Horsch, Marion, Ivandic, Boris, Klingenspor, Martin, Klopstock, Thomas, Rozman, Jan, Schrewe, Anja, Schulz, Holger, Fuchs, Helmut, Gailus-Durner, Valérie, Hrabé de Angelis, Martin, Wolf, Eckhard, Aigner, Bernhard
Published in PloS one (01.10.2013)
Published in PloS one (01.10.2013)
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"Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour?
Hoelter, Sabine M, Dalke, Claudia, Kallnik, Magdalena, Becker, Lore, Horsch, Marion, Schrewe, Anja, Favor, Jack, Klopstock, Thomas, Beckers, Johannes, Ivandic, Boris, Gailus-Durner, Valérie, Fuchs, Helmut, Hrabé de Angelis, Martin, Graw, Jochen, Wurst, Wolfgang
Published in Frontiers in bioscience (01.05.2008)
Published in Frontiers in bioscience (01.05.2008)
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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multi-systemic mitochondrial disease
Kornblum, Cornelia, Nicholls, Thomas J, Haack, Tobias B., Schöler, Susanne, Peeva, Viktoriya, Danhauser, Katharina, Hallmann, Kerstin, Zsurka, Gábor, Rorbach, Joanna, Iuso, Arcangela, Wieland, Thomas, Sciacco, Monica, Ronchi, Dario, Comi, Giacomo P., Moggio, Maurizio, Quinzii, Catarina M., DiMauro, Salvatore, Calvo, Sarah E., Mootha, Vamsi K., Klopstock, Thomas, Strom, Tim M., Meitinger, Thomas, Minczuk, Michal, Kunz, Wolfram S., Prokisch, Holger
Published in Nature genetics (13.01.2013)
Published in Nature genetics (13.01.2013)
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Whole blood genome-wide expression profiling and network analysis suggest MELAS master regulators
Mende, Susanne, Royer, Loic, Herr, Alexander, Schmiedel, Janet, Deschauer, Marcus, Klopstock, Thomas, Kostic, Vladimir S, Schroeder, Michael, Reichmann, Heinz, Storch, Alexander
Published in Neurological research (New York) (01.07.2011)
Published in Neurological research (New York) (01.07.2011)
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Treatment of essential palatal myoclonus in a 10-year-old girl with botulinum neurotoxin
Krause, Eike, Leunig, Andreas, Klopstock, Thomas, Gürkov, Robert
Published in Otology & neurotology (01.08.2006)
Published in Otology & neurotology (01.08.2006)
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Idebenone treatment for Leber hereditary optic neuropathy — Past, present, and future
Yu-Wai-Man, Patrick, Klopstock, Thomas, Metz, Günther, Büchner, Boriana, Gallenmüller, Constanze, Bailie, Maura, Nwali, Nwanyieze, Griffiths, Philip G., von Livonius, Bettina, Reznicek, Lukas, Rouleau, Jacinthe, Coppard, Nicholas, Meier, Thomas, Chinnery, Patrick F.
Published in Mitochondrion (01.11.2013)
Published in Mitochondrion (01.11.2013)
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Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice
Rosemann, Michael, Ivashkevich, Alesia, Favor, Jack, Dalke, Claudia, Hölter, Sabine M, Becker, Lore, Rácz, Ildikó, Bolle, Ines, Klempt, Martina, Rathkolb, Birgit, Kalaydjiev, Svetoslav, Adler, Thure, Aguilar, Antonio, Hans, Wolfgang, Horsch, Marion, Rozman, Jan, Calzada-Wack, Julia, Kunder, Sandra, Naton, Beatrix, Gailus-Durner, Valerie, Fuchs, Helmut, Schulz, Holger, Beckers, Johannes, Busch, Dirk H, Burbach, J Peter H, Smidt, Marten P, Quintanilla-Martinez, Leticia, Esposito, Irene, Klopstock, Thomas, Klingenspor, Martin, Ollert, Markus, Wolf, Eckhard, Wurst, Wolfgang, Zimmer, Andreas, de Angelis, Martin Hrabé, Atkinson, Michael, Heinzmann, Ulrich, Graw, Jochen
Published in Mammalian genome (01.02.2010)
Published in Mammalian genome (01.02.2010)
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Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
Giorgio, Elisa, Rolyan, Harshvardhan, Kropp, Laura, Chakka, Anish Baswanth, Yatsenko, Svetlana, Gregorio, Eleonora Di, Lacerenza, Daniela, Vaula, Giovanna, Talarico, Flavia, Mandich, Paola, Toro, Camilo, Pierre, Eleonore Eymard, Labauge, Pierre, Capellari, Sabina, Cortelli, Pietro, Vairo, Filippo Pinto, Miguel, Diego, Stubbolo, Danielle, Marques, Lourenco Charles, Gahl, William, Boespflug-Tanguy, Odile, Melberg, Atle, Hassin-Baer, Sharon, Cohen, Oren S., Pjontek, Rastislav, Grau, Armin, Klopstock, Thomas, Fogel, Brent, Meijer, Inge, Rouleau, Guy, Bouchard, Jean-Pierre L., Ganapathiraju, Madhavi, Vanderver, Adeline, Dahl, Niklas, Hobson, Grace, Brusco, Alfredo, Brussino, Alessandro, Padiath, Quasar Saleem
Published in Human mutation (01.01.2014)
Published in Human mutation (01.01.2014)
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Standardized, systemic phenotypic analysis of Slc12a1 I299F mutant mice
Kemter, Elisabeth, Rathkolb, Birgit, Becker, Lore, Bolle, Ines, Busch, Dirk H, Dalke, Claudia, Elvert, Ralf, Favor, Jack, Graw, Jochen, Hans, Wolfgang, Ivandic, Boris, Kalaydjiev, Svetoslav, Klopstock, Thomas, Rácz, Ildikó, Rozman, Jan, Schrewe, Anja, Schulz, Holger, Zimmer, Andreas, Fuchs, Helmut, Gailus-Durner, Valérie, de Angelis, Martin Hrabé, Wolf, Eckhard, Aigner, Bernhard
Published in Journal of biomedical science (02.08.2014)
Published in Journal of biomedical science (02.08.2014)
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Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice
Kemter, Elisabeth, Rathkolb, Birgit, Becker, Lore, Bolle, Ines, Busch, Dirk H, Dalke, Claudia, Elvert, Ralf, Favor, Jack, Graw, Jochen, Hans, Wolfgang, Ivandic, Boris, Kalaydjiev, Svetoslav, Klopstock, Thomas, Rácz, Ildikó, Rozman, Jan, Schrewe, Anja, Schulz, Holger, Zimmer, Andreas, Fuchs, Helmut, Gailus-Durner, Valérie, Hrabe de Angelis, Martin, Wolf, Eckhard, Aigner, Bernhard
Published in Journal of biomedical science (02.08.2014)
Published in Journal of biomedical science (02.08.2014)
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Journal Article
Analysis of LMNB 1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression
Giorgio, Elisa, Rolyan, Harshvardhan, Kropp, Laura, Chakka, Anish Baswanth, Yatsenko, Svetlana, Gregorio, Eleonora Di, Lacerenza, Daniela, Vaula, Giovanna, Talarico, Flavia, Mandich, Paola, Toro, Camilo, Pierre, Eleonore Eymard, Labauge, Pierre, Capellari, Sabina, Cortelli, Pietro, Vairo, Filippo Pinto, Miguel, Diego, Stubbolo, Danielle, Marques, Lourenco Charles, Gahl, William, Boespflug‐Tanguy, Odile, Melberg, Atle, Hassin‐Baer, Sharon, Cohen, Oren S., Pjontek, Rastislav, Grau, Armin, Klopstock, Thomas, Fogel, Brent, Meijer, Inge, Rouleau, Guy, Bouchard, Jean‐Pierre L., Ganapathiraju, Madhavi, Vanderver, Adeline, Dahl, Niklas, Hobson, Grace, Brusco, Alfredo, Brussino, Alessandro, Padiath, Quasar Saleem
Published in Human mutation (01.08.2013)
Published in Human mutation (01.08.2013)
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M.3243A>G: Many faces of one single point mutation
Windpessl, Martin, Wallner, Manfred, Lederer, Stephan R., Klopstock, Thomas, Schiffl, Helmut
Published in Wiener Klinische Wochenschrift (01.10.2010)
Published in Wiener Klinische Wochenschrift (01.10.2010)
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Mitochondrial Neurogastrointestinal Encephalomyopathy Mimicking Anorexia Nervosa
FEDDERSEN, BEREND, DE LA FONTAINE, LARISSA, SASS, JÖRN OLIVER, LUTZ, JURGEN, ABICHT, ANGELA, KLOPSTOCK, THOMAS, VERMA, ISHWAR CHANDER, MEISENZAHL, EVA, POGARELL, OLIVER
Published in The American journal of psychiatry (01.04.2009)
Published in The American journal of psychiatry (01.04.2009)
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“Puppy sign” indicating bilateral dissection of internal carotid artery
Feddersen, Berend, Linn, Jennifer, Klopstock, Thomas
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2007)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2007)
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Gene–environment interactions in Leber hereditary optic neuropathy
Kirkman, Matthew Anthony, Yu-Wai-Man, Patrick, Korsten, Alex, Leonhardt, Miriam, Dimitriadis, Konstantin, De Coo, Ireneaus F., Klopstock, Thomas, Chinnery, Patrick Francis
Published in Brain (London, England : 1878) (01.09.2009)
Published in Brain (London, England : 1878) (01.09.2009)
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Journal Article
Standardized, systemic phenotypic analysis of Slc12a1 super( I299F ) mutant mice
Kemter, Elisabeth, Rathkolb, Birgit, Becker, Lore, Bolle, Ines, Busch, Dirk H, Dalke, Claudia, Elvert, Ralf, Favor, Jack, Graw, Jochen, Hans, Wolfgang, Ivandic, Boris, Kalaydjiev, Svetoslav, Klopstock, Thomas, Racz, Ildiko, Rozman, Jan, Schrewe, Anja, Schulz, Holger, Zimmer, Andreas, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabe, Wolf, Eckhard, Aigner, Bernhard
Published in Journal of biomedical science (01.01.2014)
Published in Journal of biomedical science (01.01.2014)
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Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult
Birnbaum, T., Blom, H. J., Prokisch, H., Hartig, M., Klopstock, T.
Published in Journal of neurology (01.11.2008)
Published in Journal of neurology (01.11.2008)
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Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation
Prestel, J., Gempel, K., Hauser, T. K., Schweitzer, K., Prokisch, H., Ahting, U., Freudenstein, D., Bueltmann, E., Naegele, T., Berg, D., Klopstock, T., Gasser, T.
Published in Journal of neurology (01.05.2008)
Published in Journal of neurology (01.05.2008)
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Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots
Beetz, Christian, Schüle, Rebecca, Klebe, Stephan, Klimpe, Sven, Klopstock, Thomas, Lacour, Arnaud, Otto, Susanne, Sperfeld, Anne-Dorte, van de Warrenburg, Bart, Schöls, Ludger, Deufel, Thomas
Published in Journal of the neurological sciences (15.05.2008)
Published in Journal of the neurological sciences (15.05.2008)
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Systematic, standardized and comprehensive neurological phenotyping of inbred mice strains in the German Mouse Clinic
Schneider, Ilka, Tirsch, Werner S., Faus-Keßler, Theresa, Becker, Lore, Kling, Eva, Busse, Rose-Leah Austin, Bender, Andreas, Feddersen, Berend, Tritschler, Johannes, Fuchs, Helmut, Gailus-Durner, Valérie, Englmeier, Karl-Hans, Angelis, Martin Hrabé de, Klopstock, Thomas
Published in Journal of neuroscience methods (15.10.2006)
Published in Journal of neuroscience methods (15.10.2006)
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