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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 30
Zeitschriftenartikel
Koch, Jan C; Leha, Andreas; Bidner, Helen; Cordts, Isabell; Dorst, Johannes; Günther, René; Zeller, Daniel; Braun, Nathalie; Metelmann, Moritz; Corcia, Philippe; Cruz, Elisa De La; Weydt, Patrick; Meyer, Thomas; Großkreutz, Julian; Soriani, Marie-Hélène; Attarian, Shahram; Weishaupt, Jochen H; Weyen, Ute; Kuttler, Josua; Zurek, Gabriela; Rogers, Mary-Louise; Feneberg, Emily; Deschauer, Marcus 
ORCID: https://orcid.org/0000-0001-6116-6790; Neuwirth, Christoph; Wuu, Joanne; Ludolph, Albert C; Schmidt, Jens; Remane, Yvonne; Camu, William; Friede, Tim; Benatar, Michael; Weber, Markus und Lingor, Paul
(2024):
Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS). A phase 2, randomised, double-blind, placebo-controlled trial.
In: Lancet Neurology, Bd. 23, Nr. 11: S. 1133-1146
[PDF, 849kB]
ORCID: https://orcid.org/0000-0001-6116-6790; Neuwirth, Christoph; Wuu, Joanne; Ludolph, Albert C; Schmidt, Jens; Remane, Yvonne; Camu, William; Friede, Tim; Benatar, Michael; Weber, Markus und Lingor, Paul
(2024):
Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS). A phase 2, randomised, double-blind, placebo-controlled trial.
In: Lancet Neurology, Bd. 23, Nr. 11: S. 1133-1146
[PDF, 849kB]
Mandler, Julia M.; Härtl, Johanna; Cordts, Isabell; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Hedderich, Dennis M.; Bafligil, Cemsel; Baki, Enayatullah; Becker, Benedikt; Machetanz, Gerrit; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836; Berthele, Achim; Hemmer, Bernhard ORCID: https://orcid.org/0000-0001-5985-6784 und Deschauer, Marcus ORCID: https://orcid.org/0000-0001-6116-6790
(2024):
Uncovering genetic mimics in multiple sclerosis. A single-center clinical exome sequencing study.
In: Multiple Sclerosis Journal - Experimental, Translational and Clinical, Bd. 10, Nr. 3
[PDF, 570kB]
ORCID: https://orcid.org/0000-0002-6552-8362; Hedderich, Dennis M.; Bafligil, Cemsel; Baki, Enayatullah; Becker, Benedikt; Machetanz, Gerrit; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836; Berthele, Achim; Hemmer, Bernhard ORCID: https://orcid.org/0000-0001-5985-6784 und Deschauer, Marcus ORCID: https://orcid.org/0000-0001-6116-6790
(2024):
Uncovering genetic mimics in multiple sclerosis. A single-center clinical exome sequencing study.
In: Multiple Sclerosis Journal - Experimental, Translational and Clinical, Bd. 10, Nr. 3
[PDF, 570kB]
Caldi Gomes, Lucas ORCID: https://orcid.org/0000-0003-4959-2169; Hänzelmann, Sonja ORCID: https://orcid.org/0000-0003-4953-0101; Hausmann, Fabian ORCID: https://orcid.org/0000-0001-6110-5824; Khatri, Robin ORCID: https://orcid.org/0009-0006-5311-1718; Oller, Sergio; Parvaz, Mojan; Tzeplaeff, Laura ORCID: https://orcid.org/0009-0003-7643-3232; Pasetto, Laura; Gebelin, Marie; Ebbing, Melanie; Holzapfel, Constantin; Columbro, Stefano Fabrizio; Scozzari, Serena; Knöferle, Johanna; Cordts, Isabell; Demleitner, Antonia F.; Deschauer, Marcus; Dufke, Claudia; Sturm, Marc; Zhou, Qihui; Zelina, Pavol; Sudria-Lopez, Emma; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836; Streb, Sebastian ORCID: https://orcid.org/0000-0002-9095-6596; Kuzma-Kozakiewicz, Magdalena; Edbauer, Dieter ORCID: https://orcid.org/0000-0002-7186-4653; Pasterkamp, R. Jeroen ORCID: https://orcid.org/0000-0003-1631-6440; Laczko, Endre ORCID: https://orcid.org/0000-0003-0271-3971; Rehrauer, Hubert ORCID: https://orcid.org/0000-0001-7612-9394; Schlapbach, Ralph; Carapito, Christine ORCID: https://orcid.org/0000-0002-0079-319X; Bonetto, Valentina ORCID: https://orcid.org/0000-0003-0456-2054; Bonn, Stefan und Lingor, Paul
(2024):
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
In: Nature Communications, Bd. 15, 4893
[PDF, 4MB]
ORCID: https://orcid.org/0000-0003-4959-2169; Hänzelmann, Sonja ORCID: https://orcid.org/0000-0003-4953-0101; Hausmann, Fabian ORCID: https://orcid.org/0000-0001-6110-5824; Khatri, Robin ORCID: https://orcid.org/0009-0006-5311-1718; Oller, Sergio; Parvaz, Mojan; Tzeplaeff, Laura ORCID: https://orcid.org/0009-0003-7643-3232; Pasetto, Laura; Gebelin, Marie; Ebbing, Melanie; Holzapfel, Constantin; Columbro, Stefano Fabrizio; Scozzari, Serena; Knöferle, Johanna; Cordts, Isabell; Demleitner, Antonia F.; Deschauer, Marcus; Dufke, Claudia; Sturm, Marc; Zhou, Qihui; Zelina, Pavol; Sudria-Lopez, Emma; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836; Streb, Sebastian ORCID: https://orcid.org/0000-0002-9095-6596; Kuzma-Kozakiewicz, Magdalena; Edbauer, Dieter ORCID: https://orcid.org/0000-0002-7186-4653; Pasterkamp, R. Jeroen ORCID: https://orcid.org/0000-0003-1631-6440; Laczko, Endre ORCID: https://orcid.org/0000-0003-0271-3971; Rehrauer, Hubert ORCID: https://orcid.org/0000-0001-7612-9394; Schlapbach, Ralph; Carapito, Christine ORCID: https://orcid.org/0000-0002-0079-319X; Bonetto, Valentina ORCID: https://orcid.org/0000-0003-0456-2054; Bonn, Stefan und Lingor, Paul
(2024):
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
In: Nature Communications, Bd. 15, 4893
[PDF, 4MB]
Haertl, Johanna; Hartberger, Julia; Wunderlich, Silke; Cordts, Isabell; Bafligil, Cemsel; Sturm, Marc; Westphal, Dominik; Haack, Tobias; Hemmer, Bernhard; Ikenberg, Benno David und Deschauer, Marcus
(2023):
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
In: Journal of Neurology, Bd. 270, Nr. 3: S. 1501-1511
[PDF, 779kB]
Heinrich, Felix; Cordts, Isabell; Guenther, Rene; Stolte, Benjamin; Zeller, Daniel; Schroeter, Carsten; Weyen, Ute; Regensburger, Martin; Wolf, Joachim; Schneider, Ilka; Hermann, Andreas; Metelmann, Moritz; Kohl, Zacharias; Linker, Ralf A.; Koch, Jan Christoph; Radelfahr, Florentine; Schoenfelder, Erik; Gardt, Pavel; Mohajer-Peseschkian, Tara; Osmanovic, Alma; Klopstock, Thomas; Dorst, Johannes; Ludolph, Albert C.; Schoeffski, Oliver; Boentert, Matthias; Hagenacker, Tim; Deschauer, Marcus; Lingor, Paul; Petri, Susanne und Schreiber-Katz, Olivia
(2023):
Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.
In: Journal of Neurology, Bd. 270, Nr. 10: S. 4922-4938
[PDF, 2MB]
Brunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S.; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M.; Hoefele, Julia; Goetze, Katharina S.; Meitinger, Thomas und Wagner, Matias
(2022):
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
In: Human Molecular Genetics, Bd. 31, Nr. 14: S. 2386-2395
[PDF, 544kB]
Cordts, Isabell; Hecker, Judith S.; Gauck, Darja; Park, Joohyun; Haertl, Johanna; Guenthner, Roman; Hammitzsch, Ariane; Schoser, Benedikt; Abeck, Dietrich; Goetze, Katharina S.; Haack, Tobias B.; Deschauer, Marcus; Moog, Philipp und Hemmer, Bernhard
(2022):
Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis.
In: Rheumatology, Bd. 61, Nr. 5, E117-E119
[PDF, 382kB]
Erdmann, Hannes; Schoeberl, Florian; Giurgiu, Madalina; Silva, Rafaela Magalhaes Leal; Scholz, Veronika; Scharf, Florentine; Wendlandt, Martin; Kleinle, Stephanie; Deschauer, Marcus; Nuebling, Georg; Heide, Wolfgang; Babacan, Sait Seymen; Schneider, Christine; Neuhann, Teresa; Hahn, Katrin; Schoser, Benedikt; Holinski-Feder, Elke; Wolf, Dieter A. und Abicht, Angela
(2022):
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
In: Brain, Bd. 146, Nr. 5: S. 1831-1843
Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Schwersenz, Inge; Walter, Maggie C.; Baumann, Matthias; Baumgartner, Manuela; Deschauer, Marcus; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; Illsinger, Sabine; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; Müller, Monika; Moers, Arpad von; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Stögmann, Eva; Trollmann, Regina; Vill, Katharina; Weiß, Claudia; Wiegand, Gert; Ziegler, Andreas; Lochmüller, Hanns und Kirschner, Janbernd
(2022):
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
In: Brain, Bd. 146, Nr. 2: S. 668-677
Schlaeger, Sarah; Weidlich, Dominik; Zoffl, Agnes; Becherucci, Edoardo Aitala; Kottmaier, Elisabeth; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Zimmer, Claus; Baum, Thomas; Karampinos, Dimitrios C. und Kirschke, Jan S.
(2022):
Beyond mean value analysis - a voxel-based analysis of the quantitative MR biomarker water T-2 in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases.
In: Nmr in Biomedicine, Bd. 35, Nr. 12, e4805
Cordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B. und Deschauer, Marcus
(2022):
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin.
In: Movement Disorders, Bd. 37, Nr. 8: S. 1707-1718
[PDF, 7MB]
Schischlevskij, Pavel; Cordts, Isabell; Guenther, Rene; Stolte, Benjamin; Zeller, Daniel; Schroter, Carsten; Weyen, Ute; Regensburger, Martin; Wolf, Joachim; Schneider, Ilka; Hermann, Andreas; Metelmann, Moritz; Kohl, Zacharias; Linker, Ralf A.; Koch, Jan Christoph; Stendel, Claudia; Muschen, Lars H.; Osmanovic, Alma; Binz, Camilla; Klopstock, Thomas; Dorst, Johannes; Ludolph, Albert C.; Boentert, Matthias; Hagenacker, Tim; Deschauer, Marcus; Lingor, Paul; Petri, Susanne und Schreiber-Katz, Olivia
(2021):
Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers' Lives.
In: Brain Sciences, Bd. 11, Nr. 6, 748
[PDF, 2MB]
Wicklein, Rebecca; Heidegger, Simon; Verbeek, Mareike; Eiz-Vesper, Britta; Maecker-Kolhoff, Britta; Kirschke, Jan Stefan; Page, Agata; Korn, Thomas; Hemmer, Bernhard und Deschauer, Marcus
(2021):
Combined Treatment With Pembrolizumab and Allogenic BK Virus-Specific T Cells in Progressive Multifocal Leukoencephalopathy A Case Report.
In: Neurology-Neuroimmunology & Neuroinflammation, Bd. 8, Nr. 5, e1042
[PDF, 160kB]
Wagner, Matias; Lorenz, Georg; Volk, Alexander E.; Brunet, Theresa; Edbauer, Dieter; Berutti, Riccardo; Zhao, Chen; Anderl-Straub, Sarah; Bertram, Lars; Danek, Adrian ORCID: https://orcid.org/0000-0001-8857-5383; Deschauer, Marcus; Dill, Veronika; Fassbender, Klaus; Fliessbach, Klaus; Goetze, Katharina S.; Jahn, Holger; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Obrig, Hellmuth; Prudlo, Johannes; Schneider, Anja; Schroeter, Matthias L.; Uttner, Ingo; Vukovich, Ruth; Wiltfang, Jens; Winkler, Andrea S.; Zhou, Qihui; Ludolph, Albert C.; Oexle, Konrad; Otto, Markus; Diehl-Schmid, Janine und Winkelmann, Juliane
(2021):
Clinico-genetic findings in 509 frontotemporal dementia patients.
In: Molecular Psychiatry, Bd. 26, Nr. 10: S. 5824-5832
[PDF, 1MB]
ORCID: https://orcid.org/0000-0001-8857-5383; Deschauer, Marcus; Dill, Veronika; Fassbender, Klaus; Fliessbach, Klaus; Goetze, Katharina S.; Jahn, Holger; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Obrig, Hellmuth; Prudlo, Johannes; Schneider, Anja; Schroeter, Matthias L.; Uttner, Ingo; Vukovich, Ruth; Wiltfang, Jens; Winkler, Andrea S.; Zhou, Qihui; Ludolph, Albert C.; Oexle, Konrad; Otto, Markus; Diehl-Schmid, Janine und Winkelmann, Juliane
(2021):
Clinico-genetic findings in 509 frontotemporal dementia patients.
In: Molecular Psychiatry, Bd. 26, Nr. 10: S. 5824-5832
[PDF, 1MB]
Schlaeger, Sarah; Sollmann, Nico; Zoffl, Agnes; Becherucci, Edoardo Aitala; Weidlich, Dominik; Kottmaier, Elisabeth; Riederer, Isabelle; Greve, Tobias; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Zimmer, Claus; Karampinos, Dimitrios C.; Kirschke, Jan S. und Baum, Thomas
(2021):
Quantitative Muscle MRI in Patients with Neuromuscular Diseases-Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region.
In: Diagnostics, Bd. 11, Nr. 6, 1056
Peseschkian, Tara; Cordts, Isabell; Guenther, Rene; Stolte, Benjamin; Zeller, Daniel; Schroeter, Carsten; Weyen, Ute; Regensburger, Martin; Wolf, Joachim; Schneider, Ilka; Hermann, Andreas; Metelmann, Moritz; Kohl, Zacharias; Linker, Ralf A.; Koch, Jan Christoph; Buechner, Boriana; Weiland, Ulrike; Schoenfelder, Erik; Heinrich, Felix; Osmanovic, Alma; Klopstock, Thomas; Dorst, Johannes; Ludolph, Albert C.; Boentert, Matthias; Hagenacker, Tim; Deschauer, Marcus; Lingor, Paul; Petri, Susanne und Schreiber-Katz, Olivia
(2021):
A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany.
In: Brain Sciences, Bd. 11, Nr. 3, 372
[PDF, 1MB]
Greve, Tobias; Burian, Egon; Zoffl, Agnes; Feuerriegel, Georg; Schlaeger, Sarah; Dieckmeyer, Michael; Sollmann, Nico; Klupp, Elisabeth; Weidlich, Dominik; Inhuber, Stephanie; Löffler, Maximilian; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Bublitz, Sarah; Zimmer, Claus; Karampinos, Dimitrios C.; Kirschke, Jan S. und Baum, Thomas
(2021):
Regional variation of thigh muscle fat infiltration in patients with neuromuscular diseases compared to healthy controls.
In: Quantitative Imaging in Medicine and Surgery, Bd. 11, Nr. 6: S. 2610-2621
Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B.
(2021):
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
In: Brain, Bd. 144: S. 574-583
Joshi, Pushpa Raj; Baty, Karen; Hopton, Sila; Cordts, Isabell; Falkous, Gavin; Schoser, Benedikt; Blakely, Emma L.; Taylor, Robert W. und Deschauer, Marcus
(2020):
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C > T MT-TP (mt-tRNA(Pro)) gene variant.
In: Neuromuscular Disorders, Bd. 30, Nr. 4: S. 346-350
Husain, Ralf A.; Grimmel, Mona; Wagner, Matias; Hennings, J. Christopher; Marx, Christian; Feichtinger, Rene G.; Saadi, Abdelkrim; Rostasy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Doebler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Firouzabadi, Saghar Ghasemi; Huebner, Antje K.; Buchert, Rebecca; Beck-Woedl, Stefanie; Müller, Amelie J.; Laugwitz, Lucia; Naegele, Thomas; Wang, Zhao-Qi; Strom, Tim M.; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Huebner, Christian A.; Deschauer, Marcus; Mayr, Johannes A.; Bonnen, Penelope E.; Kraegeloh-Mann, Ingeborg; Wortmann, Saskia B. und Haack, Tobias B.
(2020):
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
In: American Journal of Human Genetics, Bd. 107, Nr. 2: S. 364-373
Burian, Egon; Greve, Tobias; Zoffl, Agnes; Feuerriegel, Georg; Schlaeger, Sarah; Dieckmeyer, Michael; Sollmann, Nico; Klupp, Elisabeth; Weidlich, Dominik; Inhuber, Stephanie; Loeffler, Maximilian; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Bublitz, Sarah; Zimmer, Claus; Kirschke, Jan S.; Karampinos, Dimitrios C. und Baum, Thomas
(2020):
Abstracts of the Scientific Presentations of the 6th Annual Meeting of the DGMSR Berlin, 23.-25.04.2020.
In: Seminars in Musculoskeletal Radiology, Bd. 24:
S1-S8
Dusek, Petr; Mekle, Ralf; Skowronska, Marta; Acosta‐Cabronero, Julio; Huelnhagen, Till; Robinson, Simon Daniel; Schubert, Florian; Deschauer, Marcus; Els, Antje; Ittermann, Bernd; Schottmann, Gudrun; Madai, Vince I.; Paul, Friedemann; Klopstock, Thomas; Kmiec, Tomasz; Niendorf, Thoralf; Wuerfel, Jens und Schneider, Susanne A.
(2020):
Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration.
In: Movement Disorders, Bd. 35, Nr. 1: S. 142-150
[PDF, 903kB]
Schlaeger, Sarah; Weidlich, Dominik; Klupp, Elisabeth; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Bublitz, Sarah; Ruschke, Stefan; Zimmer, Claus; Rummeny, Ernst J.; Kirschke, Jan S. und Karampinos, Dimitrios C.
(2019):
Decreased water T-2 in fatty infiltrated skeletal muscles of patients with neuromuscular diseases.
In: Nmr in Biomedicine, Bd. 32, Nr. 8, e4111
Schlaeger, Sarah; Weidlich, Dominik; Klupp, Elisabeth; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Bublitz, Sarah; Ruschke, Stefan; Zimmer, Claus; Rummeny, Ernst J.; Kirschke, Jan S. und Karampinos, Dimitrios C.
(2019):
Water T-2 Mapping in Fatty Infiltrated Thigh Muscles of Patients With Neuromuscular Diseases Using a T-2-Prepared 3D Turbo Spin Echo With SPAIR.
In: Journal of Magnetic Resonance Imaging, Bd. 51, Nr. 6: S. 1727-1736
Schlaeger, Sarah; Klupp, Elisabeth; Weidlich, Dominik; Cervantes, Barbara; Foreman, Sarah C.; Deschauer, Marcus; Schoser, Benedikt; Katemann, Christoph; Kooijman, Hendrik; Rummeny, Ernst J.; Zimmer, Claus; Kirschke, Jan S. und Karampinos, Dimitrios C.
(2018):
T2-Weighted Dixon Turbo Spin Echo for Accelerated Simultaneous Grading of Whole-Body Skeletal Muscle Fat Infiltration and Edema in Patients With Neuromuscular Diseases.
In: Journal of Computer Assisted Tomography, Bd. 42, Nr. 4: S. 574-579
[PDF, 985kB]
Schlaeger, Sarah; Freitag, Friedemann; Klupp, Elisabeth; Dieckmeyer, Michael; Weidlich, Dominik; Inhuber, Stephanie; Deschauer, Marcus; Schoser, Benedikt; Bublitz, Sarah; Montagnese, Federica; Zimmer, Claus; Rummeny, Ernst J.; Karampinos, Dimitrios C.; Kirschke, Jan S. und Baum, Thomas
(2018):
Thigh muscle segmentation of chemical shift encoding-based water-fat magnetic resonance images: The reference database MyoSegmenTUM.
In: PLOS One 13(6), e0198200 [PDF, 3MB]
In: PLOS One 13(6), e0198200 [PDF, 3MB]
Lukacs, Zoltan; Cobos, Paulina Nieves; Wenninger, Stephan; Willis, Tracey A.; Guglieri, Michela; Roberts, Marc; Quinlivan, Rosaline; Hilton-Jones, David; Evangelista, Teresinha; Zierz, Stephan; Schlotter-Weigel, Beate; Walter, Maggie C.; Reilich, Peter; Klopstock, Thomas; Deschauer, Marcus; Straub, Volker; Müller-Felber, Wolfgang und Schoser, Benedikt
(2016):
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
In: Neurology, Bd. 87, Nr. 3: S. 295-298
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. und Klopstock, Thomas
(2016):
Expanded phenotypic spectrum of the m.8344A > G "MERRF" mutation: data from the German mitoNET registry.
In: Journal of Neurology, Bd. 263, Nr. 5: S. 961-972
Kuhn, Marius; Gläser, Dieter; Joshi, Pushpa Raj; Zierz, Stephan; Wenninger, Stephan; Schoser, Benedikt und Deschauer, Marcus
(2016):
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
In: Journal of Neurology, Bd. 263, Nr. 4: S. 743-750
Walter, Maggie C.; Reilich, Peter; Thiele, Simone; Schessl, Joachim; Schreiber, Herbert; Reiners, Karlheinz; Kress, Wolfram; Mueller-Reible, Clemens; Vorgerd, Matthias; Urban, Peter; Schrank, Bertold; Deschauer, Marcus; Schlotter-Weigel, Beate; Kohnen, Ralf und Lochmueller, Hanns
(2013):
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
In: Orphanet Journal of Rare Diseases
8:26
[PDF, 3MB]