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Thomas Klopstock

University Hospital, LMU Munich

83H-index
1.3KPaper Count
2.6WCitation Count
Published Papers 195
Publication Date
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.
err2026-05-23
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errOAAI
errMaresa Buchholz; Victoire Monier; Claire Ewenczyk; Anna Heinzmann; Lucie Pierron; Sabrina Sayah; Rania Hilab; Mariana Atencio; Elodie Petit; Fanny Bertrand; Alix Vallancien; Chloé Diot; Stéphan Rouillon; Andreas Nadke; Katrin Feldmann; Vivian Maas; Jennifer Faber; Dorota Sarwinska; Sylvia M. Boesch; Elisabetta Indelicato; Almut T. Bischoff; Thomas Klopstock; Jörg B. Schulz; Kathrin Reetz; Zofia Fleszar; Audrey Iskandar; Thomas Klockgether; Marcus Grobe-Einsler; Feng Xie; Brittany Humphries; Bernhard Michalowsky; Alexandra Durr; Stéphanie Borel
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Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
err2026-02-14
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errOAAI
errBenita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
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Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study
err2025-12-11
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errOAAI
errMarcus Grobe-Einsler; Stéphanie Borel; Maresa Buchholz; Sabrina Sayah; Rania Hilab; Lucie Pierron; Audrey Iskandar; Brittany Humphries; Claire Ewenczyk; Anna Heinzmann; Mariana Atencio; Katrin Feldmann; Vivian Maas; Jennifer Faber; Sylvia Boesch; Elisabetta Indelicato; Kathrin Reetz; Jörg B. Schulz; Almut T. Bischoff; Thomas Klopstock
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Pleiotropic effects of MORC2 derive from its epigenetic signature
errBRAIN
IF11.7
err2025-12-01
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errOAAI
errPeymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger
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Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study
err2025-10-10
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errOAAI
errStella Andrea Lischewski MD; Imis Dogan PhD; Paola Giunti MD; Michael H. Parkinson MD; Caterina Mariotti MD; Alexandra Durr MD; Claire Ewenczyk MD; Sylvia Boesch MD; Wolfgang Nachbauer MD; Thomas Klopstock MD; Claudia Stendel MD; Francisco Javier Rodríguez de Rivera Garrido MD; Ludger Schöls MD; Zofia Fleszar MD; Thomas Klockgether MD; Marcus Grobe-Einsler MD; Ilaria Giordano MD; Myriam Rai PhD; Massimo Pandolfo MD; Heike Jacobi MD; Ralf-Dieter Hilgers PhD; Jörg B. Schulz MD; Kathrin Reetz MD; the EFACTS Study Group
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Idebenone as a treatment for Leber hereditary optic neuropathy: A plain language summary of the LEROS study publication
err2025-10-01
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PREAI
errYu-Wai-Man, Patrick; Newman, Nancy J.; Poincenot, Lissa; Ferguson, James; Klopstock, Thomas
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The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort
err2025-05-01
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PREAI
errBeijer, Danique; Mengel, David; Onder, Demet; Wilke, Carlo; Traschuetz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; Warrenburg, Bart P. van de; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Riess, Olaf; Schoels, Ludger; Haack, Tobias; Zuechner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis
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Visual acuity outcomes by sex in a historical population of patients with leber hereditary optic neuropathy from case record survey-2 (CRS-2)
err2025-01-19
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PREAI
errVotruba, M; Leroy, B; Yu-Wai-Man, P; Van Everdingen, J; Krawczynski, M; Lamperti, C; Carelli, V; Llória, X; Klopstock, T
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Efficacy and safety of lenadogene nolparvovec gene therapy for leber hereditary optic neuropathy in the real-life setting
err2025-01-19
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PREAI
errYu-Wai-Man, P; Vignal-Clermont, C; Carelli, V; La Morgia, C; Moster, M; Sergott, R; Donahue, S; Dollfus, H; Klopstock, T; Priglinger, C; Hage, R; Smirnov, V; Cochard, C; Rougier, MB; Tournaire-Marques, E; Lebranchu, P; Froment, C; Pollet-Villard, F; Laville, MA; Prospero-Ponce, C; Walter, SD; Munier, F; Zoppe, P; Taiel, M; Sahel, JA
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Changes in visual acuity categories in a historical population of patients with leber hereditary optic neuropathy from case record survey-2 (CRS-2)
err2025-01-19
err0
PREAI
errKlopstock, T; Leroy, B; Yu-Wai-Man, P; van Everdingen, J; Krawczynski, M; Lamperti, C; Carelli, V; Llória, X
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Matching algorithm utilised in the leros study of idebenone efficacy in leber hereditary optic neuropathy
err2025-01-19
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PREAI
errNewman, N; Lloria, X; Silva, MJ; Yu-Wai-Man, P; Carelli, V; Klopstock, T
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Visual acuity outcomes by causative mutation in the natural history of leber hereditary optic neuropathy: Analysis of historical data from case record survey-2 (CRS-2)
err2025-01-19
err0
PREAI
errYu-Wai-Man, P; van Everdingen, J; Leroy, B; Krawczynski, M; Lamperti, C; Carelli, V; Llòria, X; Klopstock, T
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Visual acuity outcomes by age at symptom onset in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey-2 (CRS-2)
err2025-01-19
err0
PREAI
errLlòria, X; Yu-Wai-Man, P; van Everdingen, J; Leroy, B; Krawczynski, M; Lamperti, C; Carelli, V; Klopstock, T
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Visual acuity outcomes by causative mutation in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey-2 (CRS-2)
err2025-01-19
err0
PREAI
errYu-Wai-Man, P; Van Everdingen, J; Leroy, B; Krawczynski, M; Lamperti, C; Carelli, V; Llòria, X; Klopstock, T
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Visual acuity outcomes by age at symptom onset in the natural history of leber hereditary optic neuropathy: Analysis of historical data from Case Record Survey-2 (CRS-2)
err2025-01-19
err0
PREAI
errLlòria, X; Yu-Wai-Man, P; Van Everdingen, J; Leroy, B; Krawczynski, M; Lamperti, C; Carelli, V; Klopstock, T
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Huntingtin CAG repeat size variations below the Huntington's disease threshold: associations with depression, anxiety and basal ganglia structure
err2024-11-21
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errOAAI
errVater, Magdalena; Rost, Nicolas; Eckstein, Gertrud; Sauer, Susann; Tontsch, Alina; Erhardt, Angelika; Lucae, Susanne; Brueckl, Tanja; Klopstock, Thomas; Saemann, Philipp G.; Binder, Elisabeth B.
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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
err2024-11-21
err1
errOAAI
errKaraa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A.; Mancuso, Michelango
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Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation
errBRAIN
IF11.7
err2024-11-06
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errOAAI
errSmeitink, Jan; van Es, Just; Bosman, Brigitte; Janssen, Mirian C. H.; Klopstock, Thomas; Gorman, Grainne; Vissing, John; Ruiterkamp, Gerrit; Edgar, Chris J.; Abbink, Evertine J.; van Maanen, Rob; Pogoryelova, Oksana; Stendel, Claudia; Bischoff, Almut; Karin, Ivan; Munshi, Mahtab; Kummel, Anne; Burgert, Lydia; Verhaak, Christianne; Renkema, Herma
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