Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Schüle, Rebecca, Wiethoff, Sarah, Martus, Peter, Karle, Kathrin N., Otto, Susanne, Klebe, Stephan, Klimpe, Sven, Gallenmüller, Constanze, Kurzwelly, Delia, Henkel, Dorothea, Rimmele, Florian, Stolze, Henning, Kohl, Zacharias, Kassubek, Jan, Klockgether, Thomas, Vielhaber, Stefan, Kamm, Christoph, Klopstock, Thomas, Bauer, Peter, Züchner, Stephan, Liepelt-Scarfone, Inga, Schöls, Ludger
Published in Annals of neurology (01.04.2016)
Published in Annals of neurology (01.04.2016)
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Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders
Blanco, Sandra, Dietmann, Sabine, Flores, Joana V, Hussain, Shobbir, Kutter, Claudia, Humphreys, Peter, Lukk, Margus, Lombard, Patrick, Treps, Lucas, Popis, Martyna, Kellner, Stefanie, Hölter, Sabine M, Garrett, Lillian, Wurst, Wolfgang, Becker, Lore, Klopstock, Thomas, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabĕ de Angelis, Martin, Káradóttir, Ragnhildur T, Helm, Mark, Ule, Jernej, Gleeson, Joseph G, Odom, Duncan T, Frye, Michaela
Published in The EMBO journal (17.09.2014)
Published in The EMBO journal (17.09.2014)
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Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders
Wise, Rachel M., Wagener, Annika, Fietzek, Urban M., Klopstock, Thomas, Mosharov, Eugene V., Zucca, Fabio A., Sulzer, David, Zecca, Luigi, Burbulla, Lena F.
Published in Neurobiology of disease (01.12.2022)
Published in Neurobiology of disease (01.12.2022)
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Rapamycin extends murine lifespan but has limited effects on aging
Neff, Frauke, Flores-Dominguez, Diana, Ryan, Devon P, Horsch, Marion, Schröder, Susanne, Adler, Thure, Afonso, Luciana Caminha, Aguilar-Pimentel, Juan Antonio, Becker, Lore, Garrett, Lillian, Hans, Wolfgang, Hettich, Moritz M, Holtmeier, Richard, Hölter, Sabine M, Moreth, Kristin, Prehn, Cornelia, Puk, Oliver, Rácz, Ildikó, Rathkolb, Birgit, Rozman, Jan, Naton, Beatrix, Ordemann, Rainer, Adamski, Jerzy, Beckers, Johannes, Bekeredjian, Raffi, Busch, Dirk H, Ehninger, Gerhard, Graw, Jochen, Höfler, Heinz, Klingenspor, Martin, Klopstock, Thomas, Ollert, Markus, Stypmann, Jörg, Wolf, Eckhard, Wurst, Wolfgang, Zimmer, Andreas, Fuchs, Helmut, Gailus-Durner, Valérie, Hrabe de Angelis, Martin, Ehninger, Dan
Published in The Journal of clinical investigation (01.08.2013)
Published in The Journal of clinical investigation (01.08.2013)
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Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers
Elstner, Matthias, Olszewski, Konrad, Prokisch, Holger, Klopstock, Thomas, Murgia, Marta
Published in International journal of molecular sciences (14.10.2021)
Published in International journal of molecular sciences (14.10.2021)
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Journal Article
Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing
Schludi, Martin H., May, Stephanie, Grässer, Friedrich A., Rentzsch, Kristin, Kremmer, Elisabeth, Küpper, Clemens, Klopstock, Thomas, Arzberger, Thomas, Edbauer, Dieter
Published in Acta neuropathologica (01.10.2015)
Published in Acta neuropathologica (01.10.2015)
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A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
Klopstock, Thomas, Yu-Wai-Man, Patrick, Dimitriadis, Konstantinos, Rouleau, Jacinthe, Heck, Suzette, Bailie, Maura, Atawan, Alaa, Chattopadhyay, Sandip, Schubert, Marion, Garip, Aylin, Kernt, Marcus, Petraki, Diana, Rummey, Christian, Leinonen, Mika, Metz, Günther, Griffiths, Philip G., Meier, Thomas, Chinnery, Patrick F.
Published in Brain (London, England : 1878) (01.09.2011)
Published in Brain (London, England : 1878) (01.09.2011)
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Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure
Schniepp, Roman, Wuehr, Maximilian, Neuhaeusser, Maximilian, Kamenova, Maria, Dimitriadis, Konstantin, Klopstock, Thomas, Strupp, M., Brandt, Thomas, Jahn, Klaus
Published in Movement disorders (01.01.2012)
Published in Movement disorders (01.01.2012)
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Journal Article
TOM40 mediates mitochondrial dysfunction induced by α-synuclein accumulation in Parkinson's disease
Bender, Andreas, Desplats, Paula, Spencer, Brian, Rockenstein, Edward, Adame, Anthony, Elstner, Matthias, Laub, Christoph, Mueller, Sarina, Koob, Andrew O, Mante, Michael, Pham, Emily, Klopstock, Thomas, Masliah, Eliezer
Published in PloS one (23.04.2013)
Published in PloS one (23.04.2013)
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Journal Article
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss
Schludi, Martin H., Becker, Lore, Garrett, Lillian, Gendron, Tania F., Zhou, Qihui, Schreiber, Franziska, Popper, Bastian, Dimou, Leda, Strom, Tim M., Winkelmann, Juliane, von Thaden, Anne, Rentzsch, Kristin, May, Stephanie, Michaelsen, Meike, Schwenk, Benjamin M., Tan, Jing, Schoser, Benedikt, Dieterich, Marianne, Petrucelli, Leonard, Hölter, Sabine M., Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabe, Klopstock, Thomas, Arzberger, Thomas, Edbauer, Dieter
Published in Acta neuropathologica (01.08.2017)
Published in Acta neuropathologica (01.08.2017)
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Journal Article
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic 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 (01.02.2013)
Published in Nature genetics (01.02.2013)
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Journal Article
SDHAF1 , encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
Uziel, Graziella, Ferrero, Ileana, Horvath, Rita, Lochmüller, Hanns, Strom, Tim M, Invernizzi, Federica, Goffrini, Paola, Gasparini, Paolo, Zeviani, Massimo, Klopstock, Thomas, Prokisch, Holger, Ghezzi, Daniele, D'Adamo, Pio
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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Journal Article
TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons
Schwenk, Benjamin M, Hartmann, Hannelore, Serdaroglu, Alperen, Schludi, Martin H, Hornburg, Daniel, Meissner, Felix, Orozco, Denise, Colombo, Alessio, Tahirovic, Sabina, Michaelsen, Meike, Schreiber, Franziska, Haupt, Simone, Peitz, Michael, Brüstle, Oliver, Küpper, Clemens, Klopstock, Thomas, Otto, Markus, Ludolph, Albert C, Arzberger, Thomas, Kuhn, Peer-Hendrik, Edbauer, Dieter
Published in The EMBO journal (02.11.2016)
Published in The EMBO journal (02.11.2016)
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Journal Article
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, Lohmeier, Klaus, Schneider, Dominik, Klee, Dirk, Rokicki, Dariusz, Mayatepek, Ertan, Strom, Tim M., Meitinger, Thomas, Klopstock, Thomas, Pronicka, Ewa, Mayr, Johannes A., Baric, Ivo, Distelmaier, Felix, Prokisch, Holger
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Editorial: Advances in Therapeutics for Hyperkinetic Movement Disorders
Klopstock, Thomas, Hall, Deborah, Frucht, Steven, Flamand-Roze, Emmanuel
Published in Frontiers in neurology (24.02.2022)
Published in Frontiers in neurology (24.02.2022)
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Journal Article
Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry
Altmann, Judith, Büchner, Boriana, Nadaj-Pakleza, Aleksandra, Schäfer, Jochen, Jackson, Sandra, Lehmann, Diana, Deschauer, Marcus, Kopajtich, Robert, Lautenschläger, Ronald, Kuhn, Klaus A., Karle, Kathrin, Schöls, Ludger, Schulz, Jörg B., Weis, Joachim, Prokisch, Holger, Kornblum, Cornelia, Claeys, Kristl G., Klopstock, Thomas
Published in Journal of neurology (01.05.2016)
Published in Journal of neurology (01.05.2016)
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Journal Article
Antibodies inhibit transmission and aggregation of C9orf72 poly‐GA dipeptide repeat proteins
Zhou, Qihui, Lehmer, Carina, Michaelsen, Meike, Mori, Kohji, Alterauge, Dominik, Baumjohann, Dirk, Schludi, Martin H, Greiling, Johanna, Farny, Daniel, Flatley, Andrew, Feederle, Regina, May, Stephanie, Schreiber, Franziska, Arzberger, Thomas, Kuhm, Christoph, Klopstock, Thomas, Hermann, Andreas, Haass, Christian, Edbauer, Dieter
Published in EMBO molecular medicine (01.05.2017)
Published in EMBO molecular medicine (01.05.2017)
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