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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 31

Zeitschriftenartikel

Enax-Krumova, Elena K.; Dahlhaus, Iris; Goerlach, Jonas; Claeys, Kristl G.; Montagnese, Federica; Schneider, Llka; Sturm, Dietrich; Fangerau, Tanja; Schlierbach, Hannah; Roth, Angela; Wanschitz, Julia V.; Loescher, Wolfgang N.; Guettsches, Anne-Katrin; Vielhaber, Stefan; Hasseli, Rebecca; Zunk, Lea; Kraemer, Heidrun H.; Hahn, Andreas; Schoser, Benedikt; Rosenbohm, Angela und Schaenzer, Anne (2022): Small fiber involvement is independent from clinical pain in late-onset Pompe disease. In: Orphanet Journal of Rare Diseases, Bd. 17, Nr. 1, 177

Erdmann, Hannes; Scharf, Florentine; Gehling, Stefanie; Benet-Pages, Anna; Jakubiczka, Sibylle; Becker, Kerstin; Seipelt, Maria; Kleefeld, Felix; Knop, Karl Christian; Prott, Eva Christina; Hiebeler, Miriam; Montagnese, Federica; Glaeser, Dieter; Vorgerd, Matthias; Hagenacker, Tim; Walter, Maggie C.; Reilich, Peter; Neuhann, Teresa; Zenker, Martin; Holinski-Feder, Elke; Schoser, Benedikt und Abicht, Angela (2022): Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy. In: Brain, Bd. 146, Nr. 4: S. 1388-1402

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

Vereb, Noemi; Montagnese, Federica; Gläser, Dieter und Schoser, Benedikt ORCID logoORCID: https://orcid.org/0000-0002-2757-8131 (Mai 2021): Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients. In: Journal of Neurology, Bd. 268: S. 1708-1720 [PDF, 922kB]

Wenninger, Stephan; Gutschmidt, Kristina; Wirner, Corinna; Einvag, Krisztina; Montagnese, Federica und Schoser, Benedikt (2021): The impact of interrupting enzyme replacement therapy in late-onset Pompe disease. In: Journal of Neurology, Bd. 268, Nr. 8: S. 2943-2950

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

Reilich, Peter; Schlotter, Beate; Montagnese, Federica; Jordan, Berit; Stock, Friedrich; Schaeff-Vogelsang, Mario; Hotter, Benjamin; Eger, Katherina; Diebold, Isabel; Erdmann, Hannes; Becker, Kerstin; Schoen, Ulrike und Abicht, Angela (2021): Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P. In: Neuromuscular Disorders, Bd. 31, Nr. 2: S. 123-133

Montagnese, Federica und Schoser, Benedikt (2021): New developments in myotonic dystrophies from a multisystemic perspective. In: Current Opinion in Neurology, Bd. 34, Nr. 5: S. 738-747

Wenninger, Stephan; Gutschmidt, Kristina; Wirner, Corinna; Einvag, Krisztina; Montagnese, Federica und Schoser, Benedikt (2021): The impact of interrupting enzyme replacement therapy in late-onset Pompe disease. In: Journal of neurology [PDF, 711kB]

Montagnese, Federica (2021): Current Treatment Options for Patients with Myotonic Dystrophy Type 2. In: Current Treatment Options in Neurology, Bd. 23, Nr. 9, 31

Gutschmidt, Kristina; Musumeci, Olimpia; Diaz-Manera, Jordi; Chien, Yin-Hsiu; Knop, Karl Christian; Wenninger, Stephan; Montagnese, Federica; Pugliese, Alessia; Tavilla, Graziana; Alonso-Perez, Jorge; Hwu, Paul Wuh-Liang; Toscano, Antonio und Schoser, Benedikt (2021): STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. In: Journal of Neurology, Bd. 268, Nr. 7: S. 2482-2492

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

Montagnese, Federica (2021): Current Treatment Options for Patients with Myotonic Dystrophy Type 2. In: Current Treatment Options in Neurology, Bd. 23, Nr. 9, 31 [PDF, 1MB]

Montagnese, Federica; Rastelli, Emanuele; Khizanishvili, Nina; Massa, Roberto; Stahl, Kristina und Schoser, Benedikt (21. April 2020): Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2. In: Frontiers in Neurology, Bd. 11, 306: S. 1-10 [PDF, 504kB]

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

Wenninger, Stephan; Stahl, Kristina; Montagnese, Federica und Schoser, Benedikt (2020): Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2. In: European Neurology, Bd. 83, Nr. 5: S. 523-533

Montagnese, Federica; Rastelli, Emanuele; Stahl, Kristina; Massa, Roberto und Schoser, Benedikt (2020): How to capture activities of daily living in myotonic dystrophy type 2? In: Neuromuscular Disorders, Bd. 30, Nr. 10: S. 796-806

Montagnese, Federica; Grabmaier, Ulrich; Abicht, Angela und Schoser, Benedikt (2020): Dilative cardiomyopathy displaying double trouble etiology: Myocarditis and Mcleod syndrome? In: Clinical Neurology and Neurosurgery, Bd. 197, 106122

Montagnese, Federica; Babacic, Haris; Eichhorn, Peter und Schoser, Benedikt (2019): Evaluating the diagnostic utility of new line immunoassays for myositis antibodies in clinical practice: a retrospective study. In: Journal of Neurology, Bd. 266, Nr. 6: S. 1358-1366

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

Schoser, Benedikt; Montagnese, Federica; Bassez, Guillaume; Fossati, Barbara; Gamez, Josep; Heatwole, Chad; Hilbert, James; Kornblum, Cornelia; Kostera-Pruszczyk, Anne; Krahe, Ralf; Lusakowska, Anna; Meola, Giovanni; Moxley, Richard; Thornton, Charles; Udd, Bjarne und Formaker, Paul (2019): Consensus-based care recommendations for adults with myotonic dystrophy type 2. In: Neurology-Clinical Practice, Bd. 9, Nr. 4: S. 343-353

Montagnese, Federica; Stahl, Kristina; Wenninger, Stephan und Schoser, Benedikt (2019): A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients. In: Journal of Neurology, Bd. 267, Nr. 2: S. 415-421

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

Rastelli, Emanuele; Montagnese, Federica; Massa, Roberto und Schoser, Benedikt (2018): Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review. In: Current Opinion in Neurology, Bd. 31, Nr. 5: S. 599-609

Montagnese, Federica und Schoser, Benedikt (2018): Dystrophische und nicht-dystrophische Myotonien. In: Fortschritte der Neurologie, Psychiatrie, Bd. 86, Nr. 9: S. 575-583

Wenninger, Stephan; Montagnese, Federica und Schoser, Benedikt (2018): Core Clinical Phenotypes in Myotonic Dystrophies. In: Frontiers in Neurology, Bd. 9, 303 [PDF, 663kB]

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]

Babačić, Haris; Goldina, Olga; Stahl, Kristina; Montagnese, Federica; Jurinovic, Vindi; Schoser, Benedikt und Wenninger, Stephan (2018): How to Interpret Abnormal Findings of Spirometry and Manometry in Myotonic Dystrophies? In: Journal of Neuromuscular Diseases, Bd. 5, Nr. 4: S. 451-459

Montagnese, Federica; Klupp, Elisabeth; Karampinos, Dimitrios C.; Biskup, Saskia; Gläser, Dieter; Kirschke, Jan S. und Schoser, Benedikt (2017): Two patients with GMPPB mutation: the overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. In: Muscle & Nerve, Bd. 56, Nr. 2: S. 334-340

Montagnese, Federica; Mondello, Stefania; Wenninger, Stephan; Kress, Wolfram und Schoser, Benedikt (2017): Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. In: Journal of Neurology, Bd. 264, Nr. 12: S. 2472-2480

Montagnese, Federica; Thiele, Simone; Wenninger, Stephan und Schoser, Benedikt (2016): Long-term whole-body vibration training in two late-onset Pompe disease patients. In: Neurological Sciences, Bd. 37, Nr. 8: S. 1357-1360

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