檢索結果 - Marcus Deschauer

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  1. 1
    Muscle Carnitine Palmitoyltransferase II Deficiency

    Muscle Carnitine Palmitoyltransferase II Deficiency 由 Marcus Deschauer, Thomas Wieser, Stephan Zierz

    出版 2005
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  2. 2
    Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size

    Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion... 由 Frank N. Gellerich, Marcus Deschauer, Ying Chen, Tobias Müller, Stephan Neudecker, Stephan Zierz

    出版 2002
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  3. 3
    Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle

    Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle 由 Georgia Campbell, Kim J. Krishnan, Marcus Deschauer, Robert W. Taylor, Douglass M. Turnbull

    出版 2014
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  4. 4
    Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies

    Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies 由 Anna Krasnianski, Marcus Deschauer, Stephan Neudecker, Frank N. Gellerich, Tobias Müller, Benedikt Schoser, Michael Krasnianski, Stephan Zierz

    出版 2005
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  5. 5
    Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

    Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1 由 Mirjam Larsen, Simone Rost, Nady El Hajj, A. Ferbert, Marcus Deschauer, Maggie C. Walter, Benedikt Schoser, Paweł Tacik, Wolfram Kreß, Clemens R. Müller

    出版 2014
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  6. 6
    The p.P56S mutation in the <i>VAPB</i> gene is not due to a single founder: the first European case

    The p.P56S mutation in the <i>VAPB</i> gene is not due to a single founder: the first European case 由 A. Funke, Marc Esser, Alexander Krüttgen, Joachim Weis, Miguel Mitne‐Neto, Monize Lazar, Agnes L. Nishimura, AD Sperfeld, P Trillenberg, Jan Senderek, Michael Krasnianski, Mayana Zatz, S. Zierz, Marcus Deschauer

    出版 2010
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  7. 7
    Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

    Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial 由 Maggie C. Walter, Peter Reilich, Simone Thiele, Joachim Schessl, Herbert Schreiber, Karlheinz Reiners, Wolfram Kreß, C. Müller‐Reible, Matthias Vorgerd, Péter Urbán, Bertold Schrank, Marcus Deschauer, Beate Schlotter‐Weigel, Ralf Kohnen, Hanns Lochmüller

    出版 2013
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  8. 8
    Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

    Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 由 Johann Böhm, Frédéric Chevessier, Catherine Koch, Georges Arielle Pêche, Marina Mora, Lucia Morandi, Barbara Pasanisi, Isabella Moroni, Giorgio Tasca, Fabiana Fattori, Enzo Ricci, I. Pénisson-Besnier, Aleksandra Nadaj‐Pakleza, Michel Fardeau, Pushpa Raj Joshi, Marcus Deschauer, Norma B. Romero, B. Eymard, Jocelyn Laporte

    出版 2014
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  9. 9
    Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

    Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness 由 Zoltán Lukács, Paulina Nieves Cobos, Stephan Wenninger, Tracey Willis, Michela Guglieri, Marc Roberts, Rosaline C. M. Quinlivan, David Hilton‐Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter‐Weigel, Maggie C. Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller‐Felber, Benedikt Schoser

    出版 2016
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  10. 10
    Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing

    Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing 由 Hannes Erdmann, Florian Schöberl, Mădălina Giurgiu, Rafaela L. Silva, Veronika Scholz, Florentine Scharf, Martin Wendlandt, Stephanie Kleinle, Marcus Deschauer, Georg Nübling, Wolfgang Heide, Sait Seymen Babacan, Christine Schneider, Teresa Neuhann, Katrin Hahn, Benedikt Schoser, Elke Holinski‐Feder, Dieter A Wolf, Angela Abicht

    出版 2022
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  11. 11
    Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment

    Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment 由 Maren Freigang, Claudia D. Wurster, Tim Hagenacker, Benjamin Stolte, Markus Weiler, Christoph Kamm, Olivia Schreiber‐Katz, Alma Osmanovic, Susanne Petri, Alexander B. Kowski, Thomas Meyer, Jan Christoph Koch, Isabell Cordts, Marcus Deschauer, Paul Lingor, Elisa Aust, Daniel Petzold, Albert C. Ludolph, Björn Falkenburger, Andreas Hermann, René Günther

    出版 2021
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  12. 12
    Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

    Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies 由 Anna-Lena Semmler, Sabrina Sacconi, J Elisa Bach, Claus Liebe, J. Bürmann, Rudolf A. Kley, A. Ferbert, Roland Anderheiden, Peter Van den Bergh, Jean‐Jacques Martin, Peter De Jonghe, Eva Neuen-Jacob, Oliver J. Müller, Marcus Deschauer, Markus Bergmann, J. M. Schröder, Matthias Vorgerd, Jörg B. Schulz, Joachim Weis, Wolfram Kreß, Kristl G. Claeys

    出版 2014
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  13. 13
    Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

    Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics 由 Robert D. S. Pitceathly, Conrad Smith, Carl Fratter, Charlotte L. Alston, Langping He, Kate Craig, Emma L. Blakely, Julie Evans, John M. Taylor, Zarfishan Shabbir, Marcus Deschauer, Ute Pohl, Mark Roberts, Matthew Jackson, Christopher Halfpenny, Peter D. Turnpenny, Peter Lunt, Michael G. Hanna, Andrew M. Schaefer, Robert McFarland, Rita Horváth, Patrick F. Chinnery, Douglass M. Turnbull, Joanna Poulton, Robert W. Taylor, Gráinne S. Gorman

    出版 2012
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  14. 14
    Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives

    Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives 由 Pavel Schischlevskij, Isabell Cordts, René Günther, Benjamin Stolte, Daniel Zeller, Carsten Schröter, Ute Weyen, Martin Regensburger, Joachim Wolf, Ilka Schneider, Andreas Hermann, Moritz Metelmann, Zacharias Kohl, Ralf A. Linker, Jan Christoph Koch, Claudia Stendel, Lars Hendrik Müschen, Alma Osmanovic, Camilla Binz, Thomas Klopstock, Johannes Dorst, Albert C. Ludolph, Matthias Boentert, Tim Hagenacker, Marcus Deschauer, Paul Lingor, Susanne Petri, Olivia Schreiber‐Katz

    出版 2021
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  15. 15
    Clinico-genetic findings in 509 frontotemporal dementia patients

    Clinico-genetic findings in 509 frontotemporal dementia patients 由 Matias Wagner, Georg Lorenz, Alexander E. Volk, Theresa Brunet, Dieter Edbauer, Riccardo Berutti, Chen Zhao, Sarah Anderl‐Straub, Lars Bertram, Adrian Danek, Marcus Deschauer, Veronika Dill, Klaus Faßbender, Klaus Fließbach, Katharina S. Götze, Holger Jahn, Johannes Kornhuber, G. Bernhard Landwehrmeyer, Martin Lauer, Hellmuth Obrig, Johannes Prudlo, Anja Schneider, Matthias L. Schroeter, Ingo Uttner, Ruth Vukovich, Jens Wiltfang, Andrea S. Winkler, Qihui Zhou, Albert C. Ludolph, Konrad Oexle, Markus Otto, Janine Diehl‐Schmid, Juliane Winkelmann

    出版 2021
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  16. 16
    Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial

    Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial 由 Jan Christoph Koch, Andreas Leha, Helen Bidner, Isabell Cordts, Johannes Dorst, René Günther, Daniel Zeller, Nathalie Braun, Moritz Metelmann, Philippe Corcia, Elisa De La Cruz, Patrick Weydt, Thomas Meyer, Julian Großkreutz, Marie‐Hélène Soriani, Shahram Attarian, Jochen H. Weishaupt, Ute Weyen, Josua Kuttler, Gabriela Zurek, Mary‐Louise Rogers, Emily Feneberg, Marcus Deschauer, Christoph Neuwirth, Joanne Wuu, Albert C. Ludolph, Jens Schmidt, Yvonne Remane, William Camu, Tim Friede, Michael Benatar, Markus Weber, Paul Lingor

    出版 2024
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  17. 17
    Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis

    Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis 由 Wolfgang Ruf, Matej Boros, Axel Freischmidt, Dávid Brenner, Veselin Grozdanov, Joao de Meirelles, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Großkreutz, Ute Weyen, René Guenther, Martin Regensburger, Tim Hagenacker, Jan Christoph Koch, Alexander Emmer, Annekathrin Roediger, Robert Steinbach, Joachim Wolf, Jochen H. Weishaupt, Paul Lingor, Marcus Deschauer, Isabell Cordts, Thomas Klopstock, Peter Reilich, Florian Schoeberl, Berthold Schrank, Daniel Zeller, Andreas Hermann, Antje Knehr, Kornelia Günther, Johannes Dorst, Joachim Schuster, Reiner Siebert, Albert C. Ludolph, Kathrin Müller

    出版 2023
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  18. 18
    Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

    Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target 由 Lucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, Robin Khatri, Sergio Oller Moreno, Mojan Parvaz, Laura Tzeplaeff, Laura Pasetto, Marie Gébelin, M. Ebbing, Constantin Holzapfel, Stefano Fabrizio Columbro, Serena Scozzari, Johanna Knöferle, Isabell Cordts, Antonia F. Demleitner, Marcus Deschauer, Claudia Dufke, Marc Sturm, Qihui Zhou, Pavol Zelina, Emma Sudrià-Lopez, Tobias B. Haack, Sebastian Streb, Magdalena Kuźma‐Kozakiewicz, Dieter Edbauer, R. Jeroen Pasterkamp, Endre Laczkó, Hubert Rehrauer, Ralph Schlapbach, Christine Carapito, Valentina Bonetto, Stefan Bonn, Paul Lingor

    出版 2024
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  19. 19
    Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

    Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia 由 Ralf A. Husain, Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler‐Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Arnaud Besse, Andy Cheuk‐Him Ng, Diana Chiang, François V. Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K. Huebner, Rebecca Buchert, Stefanie Beck‐Woedl, Amelie J. Müller, Lucia Laugwitz, Thomas Nägele, Zhao‐Qi Wang, Tim M. Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Rieß, Thomas Klopstock, Ulrich Brandl, Christian A. Hübner, Marcus Deschauer, Johannes A. Mayr, Penelope E. Bonnen, Ingeborg Krägeloh‐Mann, Saskia B. Wortmann, Tobias B. Haack

    出版 2020
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  20. 20
    5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

    5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2 由 Katharina Vill, Moritz Tacke, Anna König, Matthias Baumann, Manuela Baumgärtner, Robert Steinbach, Guenther Bernert, Astrid Blaschek, Marcus Deschauer, Marina Flotats‐Bastardas, Johannes Friese, Susanne Goldbach, Martin Groß, René Günther, Andreas Hahn, Tim Hagenacker, Erwin Hauser, Veronka Horber, Sabine Illsinger, Jessika Johannsen, Christoph Kamm, Jan Christoph Koch, H. Koelbel, Cornelia Koehler, Kirsten Kolzter, Hanns Lochmüller, Albert C. Ludolph, Alexander Mensch, Gerd Meyer zu Hoerste, Monika Mueller, Wolfgang Mueller‐Felber, Christoph Neuwirth, Susanne Petri, Kristina Probst-Schendzielorz, Manuel Pühringer, Robert Steinbach, Ulrike Schara‐Schmidt, Mareike Schimmel, Bertold Schrank, Oliver Schwartz, Kurt Schlachter, Annette Schwerin-Nagel, Gudrun Schreiber, Martin Smitka, Raffi Topakian, Regina Trollmann, Matthias Tuerk, Manuela Theophil, Christian Rauscher, Mathias Vorgerd, Maggie C. Walter, Markus Weiler, Claudia Weiß, Ekkehard Wilichowski, Claudia D. Wurster, Gilbert Wunderlich, Daniel Zeller, Andreas Ziegler, Janbernd Kirschner, Astrid Pechmann

    出版 2024
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