SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities
Ju, Limei, Wing, Jonathan, Taylor, Elaine, Brandt, Renata, Slijepcevic, Predrag, Horsch, Marion, Rathkolb, Birgit, Rácz, Ildikó, Becker, Lore, Hans, Wolfgang, Adler, Thure, Beckers, Johannes, Rozman, Jan, Klingenspor, Martin, Wolf, Eckhard, Zimmer, Andreas, Klopstock, Thomas, Busch, Dirk H., Gailus-Durner, Valérie, Fuchs, Helmut, Angelis, Martin Hrabě de, van der Horst, Gilbertus, Lehmann, Alan R.
Published in DNA repair (01.05.2013)
Published in DNA repair (01.05.2013)
Get full text
Journal Article
TOM40 Mediates Mitochondrial Dysfunction Induced by [alpha]-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)
Get full text
Journal Article
Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions
Bender, A., Schwarzkopf, R.-M., McMillan, A., Krishnan, K. J., Rieder, G., Neumann, M., Elstner, M., Turnbull, D. M., Klopstock, T.
Published in Journal of neurology (01.08.2008)
Published in Journal of neurology (01.08.2008)
Get full text
Journal Article
Erratum to: 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)
Get full text
Journal Article
Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1I27N mutant mice
Kumar, Sudhir, Rathkolb, Birgit, Sabrautzki, Sibylle, Krebs, Stefan, Kemter, Elisabeth, Becker, Lore, Beckers, Johannes, Bekeredjian, Raffi, Brommage, Robert, Calzada-Wack, Julia, Garrett, Lillian, Holter, Sabine M, Horsch, Marion, Klingenspor, Ma, Klopstock, Thomas, Moreth, Kristin, Neff, Frauke, Rozman, Jan, Fuchs, Helmut, Gailus-Durner, Valnrie, Hrabe de Angelis, Ma, Wolf, Eckhard, Aigner, Bernhard
Published in Journal of biomedical science (17.08.2017)
Published in Journal of biomedical science (17.08.2017)
Get full text
Journal Article
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing
Wang, Wenyi, Shen, Peidong, Thiyagarajan, Sreedevi, Lin, Shengrong, Palm, Curtis, Horvath, Rita, Klopstock, Thomas, Cutler, David, Pique, Lynn, Schrijver, Iris, Davis, Ronald W, Mindrinos, Michael, Speed, Terence P, Scharfe, Curt
Published in Nucleic acids research (01.01.2011)
Published in Nucleic acids research (01.01.2011)
Get full text
Journal Article
Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene
Haack, Tobias, Friday, Douglas, Bender, Andreas, Rolfs, Arndt, Klopstock, Thomas
Published in Journal of neurology (01.09.2009)
Published in Journal of neurology (01.09.2009)
Get full text
Journal Article
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
Schuster, Jens, Sundblom, Jimmy, Thuresson, Ann-Charlotte, Hassin-Baer, Sharon, Klopstock, Thomas, Dichgans, Martin, Cohen, Oren S., Raininko, Raili, Melberg, Atle, Dahl, Niklas
Published in Neurogenetics (01.02.2011)
Published in Neurogenetics (01.02.2011)
Get full text
Journal Article
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene
Elstner, Matthias, Morris, Christopher M., Heim, Katharina, Lichtner, Peter, Bender, Andreas, Mehta, Divya, Schulte, Claudia, Sharma, Manu, Hudson, Gavin, Goldwurm, Stefano, Giovanetti, Alessandro, Zeviani, Massimo, Burn, David J., McKeith, Ian G., Perry, Robert H., Jaros, E., Krüger, Rejko, Wichmann, H.-Erich, Schreiber, Stefan, Campbell, Harry, Wilson, James F., Wright, Alan F., Dunlop, Malcolm, Pistis, Giorgio, Toniolo, Daniela, Chinnery, Patrick F., Gasser, Thomas, Klopstock, Thomas, Meitinger, Thomas, Prokisch, Holger, Turnbull, Douglass M.
Published in Annals of neurology (01.12.2009)
Published in Annals of neurology (01.12.2009)
Get full text
Journal Article
Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation
Sabrautzki, Sibylle, Sandholzer, Michael A, Lorenz-Depiereux, Bettina, Brommage, Robert, Przemeck, Gerhard, Vargas Panesso, Ingrid L, Vernaleken, Alexandra, Garrett, Lillian, Baron, Katharina, Yildirim, Ali O, Rozman, Jan, Rathkolb, Birgit, Gau, Christine, Hans, Wolfgang, Hoelter, Sabine M, Marschall, Susan, Stoeger, Claudia, Becker, Lore, Fuchs, Helmut, Gailus-Durner, Valerie, Klingenspor, Martin, Klopstock, Thomas, Lengger, Christoph, Stefanie, Leuchtenberger, Wolf, Eckhard, Strom, Tim M, Wurst, Wolfgang, de Angelis, Martin Hrabě
Published in Mammalian genome (01.12.2016)
Published in Mammalian genome (01.12.2016)
Get full text
Journal Article
Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia
Horváth, Rita, Bender, Andreas, Abicht, Angela, Holinski-Feder, Elke, Czermin, Birgit, Trips, Tobias, Schneiderat, Peter, Lochmüller, Hanns, Klopstock, Thomas
Published in Journal of neurology (01.05.2009)
Published in Journal of neurology (01.05.2009)
Get full text
Journal Article
A Scale to Assess Activities of Daily Living in Pantothenate Kinase‐Associated Neurodegeneration
Marshall, Randall D., Collins, Abigail, Escolar, Maria L., Jinnah, H.A., Klopstock, Thomas, Kruer, Michael C., Videnovic, Aleksandar, Robichaux‐Viehoever, Amy, Swett, Laura, Revicki, Dennis A., Bender, Randall H., Lenderking, William R.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.02.2019)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.02.2019)
Get full text
Journal Article
MELAS: a mitochondrial disorder in an adult patient with a renal transplant
Lederer, Stephan R., Klopstock, Thomas, Schiffl, Helmut
Published in Wiener Klinische Wochenschrift (01.06.2010)
Published in Wiener Klinische Wochenschrift (01.06.2010)
Get full text
Journal Article
Aberrant methylation of t RNA s 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)
Get full text
Journal Article
M i R ‐34a deficiency accelerates medulloblastoma formation in vivo
Thor, Theresa, Künkele, Annette, Pajtler, Kristian W., Wefers, Annika K., Stephan, Harald, Mestdagh, Pieter, Heukamp, Lukas, Hartmann, Wolfgang, Vandesompele, Jo, Sadowski, Natalie, Becker, Lore, Garrett, Lillian, Hölter, Sabine M., Horsch, Marion, Calzada‐Wack, Julia, Klein‐Rodewald, Tanja, Racz, Ildiko, Zimmer, Andreas, Beckers, Johannes, Neff, Frauke, Klopstock, Thomas, Antonellis, Pasqualino De, Zollo, Massimo, Wurst, Wolfgang, Fuchs, Helmut, Gailus‐Durner, Valérie, Schüller, Ulrich, de Angelis, Martin Hrabě, Eggert, Angelika, Schramm, Alexander, Schulte, Johannes H.
Published in International journal of cancer (15.05.2015)
Published in International journal of cancer (15.05.2015)
Get full text
Journal Article
Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)
Reetz, Kathrin, Hilgers, Ralf-Dieter, Isfort, Susanne, Dohmen, Marc, Didszun, Claire, Fedosov, Kathrin, Kistermann, Jennifer, Mariotti, Caterina, Durr, Alexandra, Boesch, Sylvia, Klopstock, Thomas, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Klockgether, Thomas, Pandolfo, Massimo, Korinthenberg, Rudolf, Lavin, Philip, Molenberghs, Geert, Libri, Vincenzo, Giunti, Paola, Festenstein, Richard, Schulz, Jörg B
Published in Neurological research and practice (15.10.2019)
Published in Neurological research and practice (15.10.2019)
Get full text
Journal Article
Ataxia oculomotor apraxia type 2: course over 27years and a novel stop mutation in the senataxin gene
Haack, Tobias, Friday, Douglas, Bender, Andreas, Rolfs, Arndt, Klopstock, Thomas
Published in Journal of neurology (01.09.2009)
Published in Journal of neurology (01.09.2009)
Get full text
Journal Article
Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation
Sabrautzki, Sibylle, Sandholzer, Michael A., Lorenz-Depiereux, Bettina, Brommage, Robert, Przemeck, Gerhard, Vargas Panesso, Ingrid L., Vernaleken, Alexandra, Garrett, Lillian, Baron, Katharina, Yildirim, Ali O., Rozman, Jan, Rathkolb, Birgit, Gau, Christine, Hans, Wolfgang, Hoelter, Sabine M., Marschall, Susan, Stoeger, Claudia, Becker, Lore, Fuchs, Helmut, Gailus-Durner, Valerie, Klingenspor, Martin, Klopstock, Thomas, Lengger, Christoph, Stefanie, Leuchtenberger, Wolf, Eckhard, Strom, Tim M., Wurst, Wolfgang, de Angelis, Martin Hrabě
Published in Mammalian genome (2016)
Published in Mammalian genome (2016)
Get full text
Journal Article
Iron homeostasis in the brain: complete iron regulatory protein 2 deficiency without symptomatic neurodegeneration in the mouse
Klopstock, Thomas, Wurst, Wolfgang, Galy, Bruno, Ferring, Dunja, Becker, Lore, Kaden, Sylvia, Hölter, Sabine M, Gröne, Hermann-Josef, Hentze, Matthias W
Published in Nature genetics (01.09.2006)
Published in Nature genetics (01.09.2006)
Get full text
Journal Article
Creatine supplementation lowers brain glutamate levels in Huntington's disease
BENDER, Andreas, AUER, Dorothee P, KLOPSTOCK, Thomas, MERL, Thomas, REILMANN, Ralf, SAEMANN, Phillip, YASSOURIDIS, Alexander, BENDER, Julia, WEINDL, Adolf, DOSE, Matthias, GASSER, Thomas
Published in Journal of neurology (2005)
Published in Journal of neurology (2005)
Get full text
Journal Article