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Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J M, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F M, Moroni, Isabella, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia
Published in Orphanet journal of rare diseases (19.07.2018)
Published in Orphanet journal of rare diseases (19.07.2018)
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Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group
Mancuso, Michelangelo, Papadopoulou, Maria T., Ng, Yi Shiau, Ardissone, Anna, Bellusci, Marcello, Bertini, Enrico, Di Vito, Lidia, Evangelista, Teresinha, Fons, Carmen, Hikmat, Omar, Horvath, Rita, Klopstock, Thomas, Kornblum, Cornelia, Lamperti, Costanza, Licchetta, Laura, Molnar, Maria Judit, Varhaug, Kristin N., O'Callaghan, Mar, Pressler, Ronit M., Schiff, Manuel, Servidei, Serenella, Szabo, Nora, Gorman, Gráinne S., Cross, J Helen, Rahman, Shamima
Published in European journal of neurology (01.07.2024)
Published in European journal of neurology (01.07.2024)
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Neuronal 3',3,5-Triiodothyronine (T3) Uptake and Behavioral Phenotype of Mice Deficient in Mct8, the Neuronal T3 Transporter Mutated in Allan-Herndon-Dudley Syndrome
Wirth, Eva K, Roth, Stephan, Blechschmidt, Cristiane, Holter, Sabine M, Becker, Lore, Racz, Ildiko, Zimmer, Andreas, Klopstock, Thomas, Gailus-Durner, Valerie, Fuchs, Helmut, Wurst, Wolfgang, Naumann, Thomas, Brauer, Anja, Hrabe de Angelis, Martin, Kohrle, Josef, Gruters, Annette, Schweizer, Ulrich
Published in The Journal of neuroscience (29.07.2009)
Published in The Journal of neuroscience (29.07.2009)
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Neuronal 3′,3,5-Triiodothyronine (T 3 ) Uptake and Behavioral Phenotype of Mice Deficient in Mct8 , the Neuronal T 3 Transporter Mutated in Allan–Herndon–Dudley Syndrome
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Published in The Journal of neuroscience (29.07.2009)
Published in The Journal of neuroscience (29.07.2009)
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MIM-Induced Membrane Bending Promotes Dendritic Spine Initiation
Saarikangas, Juha, Kourdougli, Nazim, Senju, Yosuke, Chazal, Genevieve, Segerstråle, Mikael, Minkeviciene, Rimante, Kuurne, Jaakko, Mattila, Pieta K., Garrett, Lillian, Hölter, Sabine M., Becker, Lore, Racz, Ildikó, Hans, Wolfgang, Klopstock, Thomas, Wurst, Wolfgang, Zimmer, Andreas, Fuchs, Helmut, Gailus-Durner, Valérie, Hrabě de Angelis, Martin, von Ossowski, Lotta, Taira, Tomi, Lappalainen, Pekka, Rivera, Claudio, Hotulainen, Pirta
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Published in Developmental cell (22.06.2015)
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Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration
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Published in Movement disorders (01.06.2021)
Published in Movement disorders (01.06.2021)
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Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Yuqing, Shi, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schöls, Ludger, Distelmaier, Felix, Stettner, Georg M., Büchner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas
Published in Neurology. Genetics (01.02.2020)
Published in Neurology. Genetics (01.02.2020)
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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Van de Vondel, Liedewei, De Winter, Jonathan, Beijer, Danique, Coarelli, Giulia, Wayand, Melanie, Palvadeau, Robin, Pauly, Martje G., Klein, Katrin, Rautenberg, Maren, Guillot‐Noël, Léna, Deconinck, Tine, Vural, Atay, Ertan, Sibel, Dogu, Okan, Uysal, Hilmi, Brankovic, Vesna, Herzog, Rebecca, Brice, Alexis, Durr, Alexandra, Klebe, Stephan, Stock, Friedrich, Bischoff, Almut Turid, Rattay, Tim W., Sobrido, María‐Jesús, De Michele, Giovanna, De Jonghe, Peter, Klopstock, Thomas, Lohmann, Katja, Zanni, Ginevra, Santorelli, Filippo M., Timmerman, Vincent, Haack, Tobias B., Züchner, Stephan, Schüle, Rebecca, Stevanin, Giovanni, Synofzik, Matthis, Basak, A. Nazli, Baets, Jonathan
Published in Movement disorders (01.06.2022)
Published in Movement disorders (01.06.2022)
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Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms
PERIER, Celine, BENDER, Andreas, PROLLA, Tomas, ANDREU, Antoni L, VILA, Miquel, GARCIA-ARUMI, Elena, MELIA, Maria Jesus, BOVE, Jordi, LAUB, Christoph, KLOPSTOCK, Thomas, ELSTNER, Matthias, MOUNSEY, Ross B, TEISMANN, Peter
Published in Brain (London, England : 1878) (01.08.2013)
Published in Brain (London, England : 1878) (01.08.2013)
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MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention
Tischner, Christin, Hofer, Annette, Wulff, Veronika, Stepek, Joanna, Dumitru, Iulia, Becker, Lore, Haack, Tobias, Kremer, Laura, Datta, Alexandre N, Sperl, Wolfgang, Floss, Thomas, Wurst, Wolfgang, Chrzanowska-Lightowlers, Zofia, De Angelis, Martin Hrabe, Klopstock, Thomas, Prokisch, Holger, Wenz, Tina
Published in Human molecular genetics (15.04.2015)
Published in Human molecular genetics (15.04.2015)
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Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient
Karin, Ivan, Borggraefe, Ingo, Catarino, Claudia B., Kuhm, Christoph, Hoertnagel, Konstanze, Biskup, Saskia, Opladen, Thomas, Blau, Nenad, Heinen, Florian, Klopstock, Thomas
Published in Journal of neurology (01.03.2017)
Published in Journal of neurology (01.03.2017)
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Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency
Schrank, Bertold, Schoser, Benedikt, Klopstock, Thomas, Schneiderat, Peter, Horvath, Rita, Abicht, Angela, Holinski-Feder, Elke, Augustis, Sarunas
Published in Neuromuscular disorders : NMD (01.05.2017)
Published in Neuromuscular disorders : NMD (01.05.2017)
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Published in QJM : An International Journal of Medicine (19.09.2024)
Published in QJM : An International Journal of Medicine (19.09.2024)
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Physiological relevance of the neuronal isoform of inositol-1,4,5-trisphosphate 3-kinases in mice
Blechner, Christine, Becker, Lore, Fuchs, Helmut, Rathkolb, Birgit, Prehn, Cornelia, Adler, Thure, Calzada-Wack, Julia, Garrett, Lillian, Gailus-Durner, Valerie, Morellini, Fabio, Conrad, Susanne, Hölter, Sabine M., Wolf, Eckhard, Klopstock, Thomas, Adamski, Jerzy, Busch, Dirk, de Angelis, Martin Hrabe, Schmeisser, Michael J., Windhorst, Sabine
Published in Neuroscience letters (14.09.2020)
Published in Neuroscience letters (14.09.2020)
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Life Course of Physical Activity and Risk and Prognosis of Amyotrophic Lateral Sclerosis in a German ALS Registry
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Published in Neurology (09.11.2021)
Published in Neurology (09.11.2021)
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Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment
Catarino, Claudia B., Vollmar, Christian, Küpper, Clemens, Seelos, Klaus, Gallenmüller, Constanze, Bartkiewicz, Joanna, Biskup, Saskia, Hörtnagel, Konstanze, Klopstock, Thomas
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Published in Journal of neurology (01.02.2018)
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Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Horvath, Rita, Hudson, Gavin, Ferrari, Gianfrancesco, Fütterer, Nancy, Ahola, Sofia, Lamantea, Eleonora, Prokisch, Holger, Lochmüller, Hanns, McFarland, Robert, Ramesh, V., Klopstock, Thomas, Freisinger, Peter, Salvi, Fabrizio, Mayr, Johannes A., Santer, Rene, Tesarova, Marketa, Zeman, Jiri, Udd, Bjarne, Taylor, Robert W., Turnbull, Douglass, Hanna, Michael, Fialho, Doreen, Suomalainen, Anu, Zeviani, Massimo, Chinnery, Patrick F.
Published in Brain (London, England : 1878) (01.07.2006)
Published in Brain (London, England : 1878) (01.07.2006)
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Sahel, José-Alain, Newman, Nancy J, Yu-Wai-Man, Patrick, Vignal-Clermont, Catherine, Carelli, Valerio, Biousse, Valérie, Moster, Mark L, Sergott, Robert, Klopstock, Thomas, Sadun, Alfredo A, Blouin, Laure, Katz, Barrett, Taiel, Magali
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Published in International ophthalmology clinics (01.10.2021)
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Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic
Fuchs, Helmut, Aguilar-Pimentel, Juan Antonio, Amarie, Oana V., Becker, Lore, Calzada-Wack, Julia, Cho, Yi-Li, Garrett, Lillian, Hölter, Sabine M., Irmler, Martin, Kistler, Martin, Kraiger, Markus, Mayer-Kuckuk, Philipp, Moreth, Kristin, Rathkolb, Birgit, Rozman, Jan, da Silva Buttkus, Patricia, Treise, Irina, Zimprich, Annemarie, Gampe, Kristine, Hutterer, Christine, Stöger, Claudia, Leuchtenberger, Stefanie, Maier, Holger, Miller, Manuel, Scheideler, Angelika, Wu, Moya, Beckers, Johannes, Bekeredjian, Raffi, Brielmeier, Markus, Busch, Dirk H., Klingenspor, Martin, Klopstock, Thomas, Ollert, Markus, Schmidt-Weber, Carsten, Stöger, Tobias, Wolf, Eckhard, Wurst, Wolfgang, Yildirim, Ali Önder, Zimmer, Andreas, Gailus-Durner, Valérie, Hrabě de Angelis, Martin
Published in Behavioural brain research (15.10.2018)
Published in Behavioural brain research (15.10.2018)
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New insights into idebenone therapy in relation to NQO1
La Morgia, Chiara, Aleo, Serena Jasmine, Del Dotto, Valentina, Romagnoli, Martina, Fiorini, Claudio, Capirossi, Giada, Peron, Camille, Maresca, Alessandra, Caporali, Leonardo, Capristo, Mariantonietta, Tropeano, Concetta Valentina, Zanna, Claudia, Ross‐Cisneros, Fred, Sadun, Alfredo A., Pignataro, Maria Gemma, Giordano, Carla, Fasano, Chiara, Porcelli, Anna Maria, Tioli, Gaia, Musiani, Francesco, Catania, Alessia, Lamperti, Costanza, Marzoli, Stefania Bianchi, De Negri, Annamaria, Cascavilla, Maria Lucia, Battista, Marco, Barboni, Piero, Carbonelli, Michele, Amore, Giulia, Smirnov, Dmitrii, Vasilescu, Catalina, Farzeen, Aiman, Blickhäuser, Beryll, Prokisch, Holger, Catarino, Claudia, Klopstock, Thomas, Tiranti, Valeria, Carelli, Valerio, Ghelli, Anna Maria
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
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