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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 18

Zeitschriftenartikel

Wagner, Matias; Lorenz, Georg; Volk, Alexander E.; Brunet, Theresa; Edbauer, Dieter; Berutti, Riccardo; Zhao, Chen; Anderl-Straub, Sarah; Bertram, Lars; Danek, Adrian; 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

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

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

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

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

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

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

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]

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]

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