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Gruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 31
2022
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
2021
Vereb, Noemi; Montagnese, Federica; Gläser, Dieter und Schoser, Benedikt 
ORCID: 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]
ORCID: 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]
2020
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
2019
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
2018
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]
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
2017
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
2016
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