Publications by Schoser, Benedikt

Journal article

Vereb, Noemi; Montagnese, Federica; Gläser, Dieter; Schoser, Benedikt ORCID: 0000-0002-2757-8131 (May 2021): Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients. In: Journal of Neurology, Vol. 268: pp. 1708-1720 [PDF, 922kB]

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

Hofmeister, Fabian; Baber, Lisa; Ferrari, Uta; Hintze, Stefan; Jarmusch, Stefanie; Krause, Sabine; Meinke, Peter; Mehaffey, Stefan; Neuerburg, Carl; Tangenelli, Fabiana; Schoser, Benedikt ORCID: 0000-0002-2757-8131; Drey, Michael (2021): Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia. In: BMC neurology, Vol. 21, No. 1, 241 [PDF, 1MB]

Jarmusch, Stefanie; Baber, Lisa; Bidlingmaier, Martin ORCID: 0000-0002-4681-6668; Ferrari, Uta; Hofmeister, Fabian; Hintze, Stefan; Mehaffey, Stefan; Meinke, Peter; Neuerburg, Carl; Schoser, Benedikt ORCID: 0000-0002-2757-8131; Tanganelli, Fabiana; Drey, Michael (2021): Influence of IGF-I serum concentration on muscular regeneration capacity in patients with sarcopenia. In: BMC musculoskeletal disorders, Vol. 22, No. 1, 807 [PDF, 830kB]

As, Daniel van; Okkersen, Kees; Bassez, Guillaume; Schoser, Benedikt; Lochmüller, Hanns; Glennon, Jeffrey C.; Knoop, Hans; Engelen, Baziel G. M. van; Hoen, Peter A. C. 't (2021): Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy. In: Journal of Neuromuscular Diseases, Vol. 8, No. 6: pp. 1031-1046

Diaz-Manera, Jordi; Kishnani, Priya S.; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; Ploeg, Ans T. van der; Berger, Kenneth I.; Clemens, Paula R.; Chien, Yin-Hsiu; Day, John W.; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Borges, Joao Lindolfo; Bouhour, Francoise; Choi, Young Chul; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; Haack, Kristina An; Hug, Christopher; Huynh-Ba, Olivier; Johnson, Judith; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt (2021): Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. In: Lancet Neurology, Vol. 20, No. 12: pp. 1012-1026

Ferrari, Uta; Schmidmaier, Ralf; Jung, Theresa; Reincke, Martin; Martini, Sebastian; Schoser, Benedikt; Bidlingmaier, Martin; Drey, Michael (2021): IGF-I/IGFBP3/ALS Deficiency in Sarcopenia: Low GHBP Suggests GH Resistance in a Subgroup of Geriatric Patients. In: Journal of Clinical Endocrinology & Metabolism, Vol. 106, No. 4, E1698-E1707

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.; 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, Vol. 11, No. 6: pp. 2610-2621

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; 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, Vol. 268, No. 7: pp. 2482-2492

Hahn, Andreas; Lampe, Christina; Boentert, Matthias; Hundsberger, Thomas; Loescher, Wolfgang; Wenninger, Stephan; Ziegler, Andreas; Lagler, Florian; Ballhausen, Diana; Schlegel, Thomas; Schoser, Benedikt (2021): Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum. In: Fortschritte der Neurologie Psychiatrie, Vol. 89, No. 12: pp. 630-636

Hintze, Stefan; Mensel, Raphaela; Knaier, Lisa; Schoser, Benedikt; Meinke, Peter (2021): CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1. In: Frontiers in Neuroscience, Vol. 15, 686735

Hofmeister, Fabian; Baber, Lisa; Ferrari, Uta; Hintze, Stefan; Jarmusch, Stefanie; Krause, Sabine; Meinke, Peter; Mehaffey, Stefan; Neuerburg, Carl; Tangenelli, Fabiana; Schoser, Benedikt; Drey, Michael (2021): Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia. In: BMC Neurology, Vol. 21, No. 1, 241

Jarmusch, Stefanie; Baber, Lisa; Bidlingmaier, Martin; Ferrari, Uta; Hofmeister, Fabian; Hintze, Stefan; Mehaffey, Stefan; Meinke, Peter; Neuerburg, Carl; Schoser, Benedikt; Tanganelli, Fabiana; Drey, Michael (2021): Influence of IGF-I serum concentration on muscular regeneration capacity in patients with sarcopenia. In: BMC Musculoskeletal Disorders, Vol. 22, No. 1, 807

Korinthenberg, Rudolf; Trollmann, Regina; Plecko, Barbara; Stettner, Georg M.; Blankenburg, Markus; Weis, Joachim; Schoser, Benedikt; Mueller-Felber, Wolfgang; Lochbuehler, Nina; Hahn, Gabriele; Rudnik-Schoeneborn, Sabine (2021): Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines. In: Children, Vol. 8, No. 8, 687

Lehmann, Helmar C.; Schoser, Benedikt; Wunderlich, Gilbert; Berlit, Peter; Fink, Gereon R. (2021): Neuromuskuläre Komplikationen einer SARS-CoV-2-Infektion – Teil 2: Erkrankungen der Muskulatur. In: Nervenarzt, Vol. 92, No. 6: pp. 548-555

Lehmann, Helmar C.; Schoser, Benedikt; Wunderlich, Gilbert; Berlit, Peter; Fink, Gereon R. (2021): Neuromuskuläre Komplikationen einer SARS-CoV-2-Infektion – Teil 1: periphere Nerven. In: Nervenarzt, Vol. 92, No. 6: pp. 540-547

Montagnese, Federica; Schoser, Benedikt (2021): New developments in myotonic dystrophies from a multisystemic perspective. In: Current Opinion in Neurology, Vol. 34, No. 5: pp. 738-747

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.; 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, Vol. 11, No. 6, 1056

Schoser, Benedikt (2021): Welche Therapieversuche sollten bei Einschlusskörpermyositis unternommen werden? In: Zeitschrift für Rheumatologie, Vol. 80, No. 4: pp. 362-363

Schoser, Benedikt; Roberts, Mark; Byrne, Barry J.; Sitaraman, Sheela; Jiang, Hai; Laforet, Pascal; Toscano, Antonio; Castelli, Jeff; Diaz-Manera, Jordi; Goldman, Mitchell; Ploeg, Ans T. van der; Bratkovic, Drago; Kuchipudi, Srilakshmi; Mozaffar, Tahseen; Kishnani, Priya S. (2021): Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. In: Lancet Neurology, Vol. 20, No. 12: pp. 1027-1037

Tanganelli, Fabiana; Meinke, Peter; Hofmeister, Fabian; Jarmusch, Stefanie; Baber, Lisa; Mehaffey, Stefan; Hintze, Stefan; Ferrari, Uta; Neuerburg, Carl; Kammerlander, Christian; Schoser, Benedikt; Drey, Michael (2021): Type-2 muscle fiber atrophy is associated with sarcopenia in elderly men with hip fracture. In: Experimental Gerontology, Vol. 144, 111171

Todorow, Vanessa; Hintze, Stefan; Kerr, Alastair R. W.; Hehr, Andreas; Schoser, Benedikt; Meinke, Peter (2021): Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1. In: International Journal of Molecular Sciences, Vol. 22, No. 16, 8607

Wenninger, Stephan; Cumming, Sarah A.; Gutschmidt, Kristina; Okkersen, Kees; Jimenez-Moreno, Aura Cecilia; Daidj, Ferroudja; Lochmüller, Hanns; Hogarth, Fiona; Knoop, Hans; Bassez, Guillaume; Monckton, Darren G.; Engelen, Baziel G. M. van; Schoser, Benedikt (2021): Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1. In: Neurology: Genetics, Vol. 7, No. 2, e572

Wenninger, Stephan; Gutschmidt, Kristina; Wirner, Corinna; Einvag, Krisztina; Montagnese, Federica; Schoser, Benedikt (2021): The impact of interrupting enzyme replacement therapy in late-onset Pompe disease. In: Journal of Neurology, Vol. 268, No. 8: pp. 2943-2950

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

Gutschmidt, K.; Wenninger, S.; Montagnese, F.; Schoser, Benedikt (2020): Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis. In: Journal of neurology, Vol. 268: pp. 84-492 [PDF, 1MB]

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.; 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, Vol. 24: S1-S8

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

Meinke, Peter; Kerr, Alastair R. W.; Czapiewski, Rafal; de Las Heras, Jose; Dixon, Charles R.; Harris, Elizabeth; Koelbel, Heike; Muntoni, Francesco; Schara, Ulrike; Straub, Volker; Schoser, Benedikt; Wehnert, Manfred; Schirmer, Eric C. (2020): A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. In: Ebiomedicine, Vol. 51, 102587

Joshi, Pushpa Raj; Baty, Karen; Hopton, Sila; Cordts, Isabell; Falkous, Gavin; Schoser, Benedikt; Blakely, Emma L.; Taylor, Robert W.; 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, Vol. 30, No. 4: pp. 346-350

Wenninger, Stephan; Stahl, Kristina; Wirner, Corinna; Einvag, Krisztina; Thiele, Simone; Walter, Maggie C.; Schoser, Benedikt (2020): Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders. In: Neuromuscular Disorders, Vol. 30, No. 8: pp. 640-648

Montagnese, Federica; Rastelli, Emanuele; Stahl, Kristina; Massa, Roberto; Schoser, Benedikt (2020): How to capture activities of daily living in myotonic dystrophy type 2? In: Neuromuscular Disorders, Vol. 30, No. 10: pp. 796-806

Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; Kooi, A. J. van der; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel; Diaz-Manera, Jordi (2020): New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. In: Brain, Vol. 143: pp. 2696-2708

Krenovsky, Jan-Peter; Bötzel, Kai; Ceballos-Baumann, Andres; Fietzek, Urban M.; Schoser, Benedikt; Maetzler, Walter; Ferrari, Uta; Drey, Michael (2020): Interrelation between Sarcopenia and the Number of Motor Neurons in Patients with Parkinsonian Syndromes. In: Gerontology, Vol. 66, No. 4: pp. 409-415

Wenninger, Stephan; Stahl, Kristina; Montagnese, Federica; Schoser, Benedikt (2020): Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2. In: European Neurology, Vol. 83, No. 5: pp. 523-533

Kurkiewicz, Adam; Cooper, Anneli; Mcllwaine, Emily; Cumming, Sarah A.; Adam, Bent; Krahe, Ralf; Puymirat, Jack; Schoser, Benedikt ORCID: 0000-0002-2757-8131; Timchenko, Lubov; Ashizawa, Tetsuo; Thornton, Charles A.; Rogers, Simon; McClure, John D.; Monckton, Darren G. (2020): Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.
In: PLOS One 15(4), e0231000 [PDF, 1MB]

Hintze, Stefan; Limmer, Sarah; Dabrowska-Schlepp, Paulina; Berg, Birgit; Krieghoff, Nicola; Busch, Andreas; Schaaf, Andreas; Meinke, Peter; Schoser, Benedikt (2020): Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease. In: International Journal of Molecular Sciences, Vol. 21, No. 7, 2642

Wansink, Derick G.; Gourdon, Genevieve; Engelen, Baziel G. M. van; Schoser, Benedikt (2020): 248th ENMC International Workshop: Myotonic dystrophies: Molecular approaches for clinical purposes, framing a European molecular research network, Hoofddorp, the Netherlands, 11-13 October 2019. In: Neuromuscular Disorders, Vol. 30, No. 6: pp. 521-531

Stahl, Kristina; Rastelli, Emanuele; Schoser, Benedikt (2020): A systematic review on the definition of rhabdomyolysis. In: Journal of Neurology, Vol. 267, No. 4: pp. 877-882

Schlaeger, Sarah; Weidlich, Dominik; Klupp, Elisabeth; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Bublitz, Sarah; Ruschke, Stefan; Zimmer, Claus; Rummeny, Ernst J.; Kirschke, Jan S.; 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, Vol. 51, No. 6: pp. 1727-1736

Schoser, Benedikt; Hahn, Andreas; James, Emma; Gupta, Digant; Gitlin, Matthew; Prasad, Suyash (2019): A Systematic Review of the Health Economics of Pompe Disease. In: Pharmacoeconomics-Open, Vol. 3, No. 4: pp. 479-493

Feichtinger, Rene G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D'Anjou, Guy; Thi Tuyet Mai, Nguyen; Buchert, Rebecca; Jünger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fatima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M.; Ellezam, Benjamin; Mayr, Johannes A.; Schoels, Ludger; Michaud, Jacques L.; Campeau, Philippe M.; Haack, Tobias B.; Dumont, Nicolas A. (2019): Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. In: Genetics in Medicine, Vol. 21, No. 11: pp. 2521-2531

Montagnese, Federica; Stahl, Kristina; Wenninger, Stephan; 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, Vol. 267, No. 2: pp. 415-421

Cumming, Sarah A.; Jimenez-Moreno, Cecilia; Okkersen, Kees; Wenninger, Stephan; Daidj, Ferroudja; Hogarth, Fiona; Littleford, Roberta; Gorman, Grainne; Bassez, Guillaume; Schoser, Benedikt; Lochmuller, Hanns; van Engelen, Baziel G. M.; Monckton, Darren G. (2019): Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. In: Neurology, Vol. 93, No. 10, E995-E1009

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; Formaker, Paul (2019): Consensus-based care recommendations for adults with myotonic dystrophy type 2. In: Neurology-Clinical Practice, Vol. 9, No. 4: pp. 343-353

Schlaeger, Sarah; Weidlich, Dominik; Klupp, Elisabeth; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Bublitz, Sarah; Ruschke, Stefan; Zimmer, Claus; Rummeny, Ernst J.; Kirschke, Jan S.; Karampinos, Dimitrios C. (2019): Decreased water T-2 in fatty infiltrated skeletal muscles of patients with neuromuscular diseases. In: Nmr in Biomedicine, Vol. 32, No. 8, e4111

Hundsberger, Thomas; Schoser, Benedikt; Leupold, Daniela; Rosler, Kai Michael; Putora, Paul Martin (2019): Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale. In: Journal of Neurology, Vol. 266, No. 8: pp. 2010-2017

Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Koelbel, Heike (2019): Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. In: Orphanet Journal of Rare Diseases, Vol. 14, 179

Godefroy, Anastasia; Daurat, Morgane; Da Silva, Afitz; Basile, Ilaria; El Cheikh, Khaled; Caillaud, Catherine; Sacconi, Sabrina; Schoser, Benedikt; Charbonne, Henry-Vincent; Gary-Bobo, Magali; Morere, Alain; Garcia, Marcel; Maynadier, Marie (2019): Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease. In: Journal of Cellular and Molecular Medicine, Vol. 23, No. 9: pp. 6499-6503

Meinke, Peter; Limmer, Sarah; Hintze, Stefan; Schoser, Benedikt (2019): Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease. In: Annals of Translational Medicine, Vol. 7, No. 13, 277

Schoser, Benedikt (2019): Pompe disease: what are we missing? In: Annals of Translational Medicine, Vol. 7, No. 13, 292

Montagnese, Federica; Babacic, Haris; Eichhorn, Peter; Schoser, Benedikt (2019): Evaluating the diagnostic utility of new line immunoassays for myositis antibodies in clinical practice: a retrospective study. In: Journal of Neurology, Vol. 266, No. 6: pp. 1358-1366

Ikenberg, Elena; Reilich, Peter; Abicht, Angela; Heller, Corina; Schoser, Benedikt; Walter, Maggie C. (2019): Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family. In: Neuromuscular Disorders, Vol. 29, No. 5: pp. 392-397

Bergsma, Atze J.; In 't Groen, Stijn L. M.; van den Dorpel, Jan J. A.; van den Hout, Hannerieke J. M. P.; van der Beek, Nadine A. M. E.; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T.; Pijnappel, W. W. M. Pim (2019): A genetic modifier of symptom onset in Pompe disease. In: Ebiomedicine, Vol. 43: pp. 553-561

Babacic, Haris; Mehta, Aditi; Merkel, Olivia; Schoser, Benedikt (2019): CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review.
In: PLOS One 14(2), e0212198 [PDF, 2MB]

Dorst, Maud van; Okkersen, Kees; Kessels, Roy P. C.; Meijer, Frederick J. A.; Monckton, Darren G.; van Engelen, Baziel G. M.; Tuladhar, Anil M.; Raaphorst, Joost; Nikolaus, Stephanie; Cornelissen, Yvonne; Nimwegen, Marlies van; Maas, Daphne; Klerks, Ellen; Bouman, Sacha; Knoop, Hans; Heskamp, Linda; Heerschap, Arend; Rahmadi, Ridho; Groot, Perry; Heskes, Tom; Kapusta, Katarzyna; Glennon, Jeffrey; Abghari, Shaghayegh; Aschrafi, Armaz; Poelmans, Geert; Lochmüller, Hanns; Gorman, Grainne; Moreno, Aura Cecilia Jimenez; Trenell, Michael; Laar, Sandra van; Wood, Libby; Cassidy, Sophie; Newman, Jane; Charman, Sarah; Steffaneti, Renae; Taylor, Louise; Brownrigg, Allan; Day, Sharon; Atalaia, Antonio; Schoser, Benedikt; Wenninger, Stephan; Schueller, Angela; Stahl, Kristina; Kuenzel, Heike; Wolf, Martin; Jelinek, Anna; Bassez, Guillaume; Daidj, Ferroudja; Lignier, Baptiste; Couppey, Florence; Delmas, Stephanie; Deux, Jean-Francois; Hankiewicz, Karolina; Dogan, Celine; Minier, Lisa; Chevalier, Pascale; Hamadouche, Amira; Cumming, Sarah A.; Donnan, Peter; Hapca, Adrian; Hannah, Michael; Hogarth, Fiona; Littleford, Roberta; McKenzie, Emma; Rauchhaus, Petra; Catt, Michael; Hees, Vincent van; Catt, Sharon; Schwalber, Ameli; Dittrich, Juliane; Treweek, Shaun; Faber, Catharina; Merkies, Ingemar; Kierkegaard, Marie (2019): Structural white matter networks in myotonic dystrophy type 1. In: Neuroimage-Clinical, Vol. 21, UNSP 101615

Wenninger, Stephan; Greckl, Eva; Babacic, Haris; Stahl, Kristina; Schoser, Benedikt (2019): Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study. In: Journal of Neurology, Vol. 266, No. 1: pp. 133-147

Stangl, Michaela Katja; Böcker, Wolfgang; Chubanov, Vladimir; Ferrari, Uta; Fischereder, Michael; Gudermann, Thomas; Hesse, Eric; Meinke, Peter; Reincke, Martin; Reisch, Nicole; Saller, Maximilian M.; Seissler, Jochen; Schmidmaier, Ralf; Schoser, Benedikt; Then, Cornelia; Thorand, Barbara; Drey, Michael (2019): Sarcopenia - Endocrinological and Neurological Aspects. In: Experimental and Clinical Endocrinology & Diabetes, Vol. 127, No. 1: pp. 8-22

Laforet, Pascal; Inoue, Michio; Goillot, Evelyne; Lefeuvre, Claire; Cagin, Umut; Streichenberger, Nathalie; Leonard-Louis, Sarah; Brochier, Guy; Madelaine, Angeline; Labasse, Clemence; Hedberg-Oldfors, Carola; Krag, Thomas; Jauze, Louisa; Fabregue, Julien; Labrune, Philippe; Milisenda, Jose; Nadaj-Pakleza, Aleksandra; Sacconi, Sabrina; Mingozzi, Federico; Ronzitti, Giuseppe; Petit, Francois; Schoser, Benedikt; Oldfors, Anders; Vissing, John; Romero, Norma B.; Nishino, Ichizo; Malfatti, Edoardo (2019): Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment. In: Acta Neuropathologica Communications, Vol. 7, No. 1, 167

Pena, Loren D. M.; Barohn, Richard J.; Byrne, Barry J.; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Karl Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Van Damme, Philip; Vissing, John; Young, Peter; Kacena, Katherine; Shafi, Raheel; Thurberg, Beth L.; Culm-Merdek, Kerry; van der Ploeg, Ans T. (2019): Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naive and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study. In: Neuromuscular Disorders, Vol. 29, No. 3: pp. 167-186

Babačić, Haris; Goldina, Olga; Stahl, Kristina; Montagnese, Federica; Jurinovic, Vindi; Schoser, Benedikt; Wenninger, Stephan (2018): How to Interpret Abnormal Findings of Spirometry and Manometry in Myotonic Dystrophies? In: Journal of Neuromuscular Diseases, Vol. 5, No. 4: pp. 451-459

Chamova, Teodora; Bichev, Stoyan; Todorov, Tihomir; Gospodinova, Mariana; Taneva, Ani; Kastreva, Kristina; Zlatareva, Dora; Krupev, Martin; Hadjiivanov, Rosen; Guergueltcheva, Velina; Grozdanova, Liliana; Tzoneva, Dochka; Hübner, Angela; Hagen, Maja von der; Schoser, Benedikt; Lochmüller, Hanns; Todorova, Albena; Tournev, Ivailo (2018): Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G > A, p.Trp25X mutation. In: Neuromuscular Disorders, Vol. 28, No. 8: pp. 625-632

Shashi, Vandana; Magiera, Maria M.; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Neto, Osorio Lopes Abath; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A.; Marom, Ronit; Arold, Stefan T.; Guzman-Vega, Francisco J.; Pena, Loren D. M.; Smith, Edward C.; Steinlin, Maja; Babiker, Mohamed O. E.; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S.; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y.; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G.; Wentzensen, Ingrid M.; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S.; Goldstein, David B.; Schoser, Benedikt; Rosler, Kai M.; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M.; Kamsteeg, Erik-Jan; Bonnemann, Carsten G.; Gleeson, Joseph G.; Martini, Rudolf; Janke, Carsten; Senderek, Jan (2018): Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. In: EMBO Journal, Vol. 37, No. 23, e100540

Meinke, Peter; Hintze, Stefan; Limmer, Sarah; Schoser, Benedikt (2018): Myotonic Dystrophy-A Progeroid Disease? In: Frontiers in Neurology, Vol. 9, 601 [PDF, 1MB]

Hintze, Stefan; Knaier, Lisa; Limmer, Sarah; Schoser, Benedikt; Meinke, Peter (2018): Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1. In: Frontiers in Physiology, Vol. 9, 1532 [PDF, 1MB]

Sommer, Claudia; Geber, Christian; Young, Peter; Forst, Raimund; Birklein, Frank; Schoser, Benedikt (2018): Polyneuropathies. Etiology, Diagnosis, and Treatment Options. In: Deutsches Ärzteblatt International, Vol. 115, No. 6: pp. 83-90

Okkersen, Kees; Jimenez-Moreno, Cecilia; Wenninger, Stephan; Daidj, Ferroudja; Glennon, Jeffrey; Cumming, Sarah; Littleford, Roberta; Monckton, Darren G.; Lochmüller, Hanns; Catt, Michael; Faber, Catharina G.; Hapca, Adrian; Donnan, Peter T.; Gorman, Grainne; Bassez, Guillaume; Schoser, Benedikt; Knoop, Hans; Treweek, Shaun; Engelen, Baziel G. M. van (2018): Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. In: Lancet Neurology, Vol. 17, No. 8: pp. 671-680

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.; 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]

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

Wenninger, Stephan; Schoser, Benedikt (2018): Das Anti-IgLON5-Syndrom – Was ist unser aktueller Wissensstand? In: Fortschritte der Neurologie, Psychiatrie, Vol. 86, No. 9: pp. 559-565

Montagnese, Federica; Schoser, Benedikt (2018): Dystrophische und nicht-dystrophische Myotonien. In: Fortschritte der Neurologie, Psychiatrie, Vol. 86, No. 9: pp. 575-583

Schneider-Gold, Christiane; Schoser, Benedikt; Ellrichmann, Gisa; Quasthoff, Stefan; Lehmann-Horn, Frank; Sinnreich, Michael (2018): Myotone Dystrophien, nicht dystrophe Myotonien und periodische Paralysen. In: Aktuelle Neurologie, Vol. 45, No. 3: pp. 167-177

Wenninger, Stephan; Schoser, Benedikt (2018): Myasthenia gravis: aktuelle Antikörperdiagnostik und Aspekte zum therapierefraktären Verlauf. In: Fortschritte der Neurologie, Psychiatrie, Vol. 86, No. 9: pp. 551-558

Walter, Maggie C.; Schoser, Benedikt (2018): Neue Therapien der spinalen Muskelatrophie. In: Aktuelle Neurologie, Vol. 45, No. 8: pp. 617-624

Wood, Libby; Bassez, Guillaume; Engelen, Baziel van; Lochmüller, Harms; Schoser, Benedikt (2018): 222nd ENMC International Workshop: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016. In: Neuromuscular Disorders, Vol. 28, No. 5: pp. 463-469

Ashizawa, Tetsuo; Gagnon, Cynthia; Groh, William J.; Gutmann, Laurie; Johnson, Nicholas E.; Meola, Giovanni; Moxley, Richard; Pandya, Shree; Rogers, Mark T.; Simpson, Ericka; Angeard, Nathalie; Bassez, Guillaume; Berggren, Kiera N.; Bhakta, Deepak; Bozzali, Marco; Broderick, Ann; Byrne, Janice L. B.; Campbell, Craig; Cup, Edith; Day, John W.; De Mattia, Elisa; Duboc, Denis; Duong, Tina; Eichinger, Katy; Ekstrom, Anne-Berit; Engelen, Baziel van; Esparis, Belen; Eymard, Bruno; Ferschl, Marla; Gadalla, Shahinaz M.; Gallais, Benjamin; Goodglick, Todd; Heatwole, Chad; Hilbert, James; Holland, Venessa; Kierkegaard, Marie; Koopman, Wilma J.; Lane, Kari; Maas, Daphne; Mankodi, Ami; Mathews, Katherine D.; Monckton, Darren G.; Moser, David; Nazarian, Saman; Nguyen, Linda; Nopoulos, Peg; Petty, Richard; Phetteplace, Janel; Puymirat, Jack; Raman, Subha; Richer, Louis; Roma, Elisabetta; Sampson, Jacinda; Sansone, Valeria; Schoser, Benedikt; Sterling, Laurie; Statland, Jeffrey; Subramony, S. H.; Tian, Cuixia; Trujillo, Carenina; Tomaselli, Gordon; Turner, Chris; Venance, Shannon; Verma, Aparajitha; White, Molly; Winblad, Stefan (2018): Consensus-based care recommendations for adults with myotonic dystrophy type 1. In: Neurology - Clinical Practice, Vol. 8, No. 6: pp. 507-520 [PDF, 2MB]

Schatz, Ulrich A.; Weiss, Simone; Wenninger, Stephan; Schoser, Benedikt; Muss, Wolfgang H.; Bittner, Reginald E.; Schmidt, Wolfgang M.; Schossig, Anna S.; Rudnik-Schöneborn, Sabine; Baumann, Matthias (2018): Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. In: Neurology, Vol. 91, No. 18, E1690-E1694 [PDF, 539kB]

Sellier, Chantal; Cerro-Herreros, Estefania; Blatter, Markus; Freyermuth, Fernande; Gaucherot, Angeline; Ruffenach, Frank; Sarkar, Partha; Puymirat, Jack; Udd, Bjarne; Day, John W.; Meola, Giovanni; Bassez, Guillaume; Fujimura, Harutoshi; Takahashi, Masanori P.; Schoser, Benedikt; Furling, Denis; Artero, Ruben; Allain, Frederic H. T.; Llamusi, Beatriz; Charlet-Berguerand, Nicolas (2018): rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. In: Nature Communications, Vol. 9, 2009 [PDF, 3MB]

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.; 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, Vol. 42, No. 4: pp. 574-579 [PDF, 985kB]

Rastelli, Emanuele; Montagnese, Federica; Massa, Roberto; Schoser, Benedikt (2018): Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review. In: Current Opinion in Neurology, Vol. 31, No. 5: pp. 599-609

Wood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne; Campbell, Craig; Cossette, Louise; Jimenez-Moreno, Aura Cecilia; Dai, Yi; Dawkins, Hugh; Diaz Manera, Jorge Alberto; Dogan, Celine; El Sherif, Rasha; Fossati, Barbara; Graham, Caroline; Hilbert, James; Kastreva, Kristinia; Kimura, En; Korngut, Lawrence; Kostera-Pruszczyk, Anna; Lindberg, Christopher; Lindvall, Björn; Luebbe, Elizabeth; Lusakowska, Anna; Mazanec, Radim; Meola, Giovani; Orlando, Liannna; Takahashi, Masanori P.; Peric, Stojan; Puymirat, Jack; Rakocevic-Stojanovic, Vidosava; Rodrigues, Miriam; Roxburgh, Richard; Schoser, Benedikt; Segovia, Sonia; Shatillo, Andriy; Thiele, Simone; Tournev, Ivailo; Engelen, Baziel van; Vohanka, Stanislav; Lochmüller, Hanns (2018): Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. In: Orphanet Journal of Rare Diseases 13:155 [PDF, 1MB]

Mengel, David; Librizzi, Damiano; Schoser, Benedikt; Gläser, Dieter; Clemen, Christoph S.; Dodel, Richard; Schröder, Rolf (2018): Einschlusskörpermyopathie, Paget-Krankheit und frontotemporale Demenz: eine VCP-bedingte, multisystemische Proteinopathie. In: Fortschritte der Neurologie Psychiatrie, Vol. 86, No. 7: pp. 434-438

Schludi, Martin H.; Becker, Lore; Garrett, Lillian; Gendron, Tania F.; Zhou, Qihui; Schreiber, Franziska; Popper, Bastian; Dimou, Leda; Strom, Tim M.; Winkelmann, Juliane; Thaden, Anne von; Rentzsch, Kristin; May, Stephanie; Michaelsen, Meike; Schwenk, Benjamin M.; Tan, Jing; Schoser, Benedikt; Dieterich, Marianne; Petrucelli, Leonard; Hölter, Sabine M.; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Klopstock, Thomas; Arzberger, Thomas; Edbauer, Dieter (2017): Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss. In: Acta Neuropathologica, Vol. 134, No. 2: pp. 241-254

Montagnese, Federica; Mondello, Stefania; Wenninger, Stephan; Kress, Wolfram; Schoser, Benedikt (2017): Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. In: Journal of Neurology, Vol. 264, No. 12: pp. 2472-2480

Schoser, Benedikt; Bilder, Deborah A.; Dimmock, David; Gupta, Digant; James, Emma S.; Prasad, Suyash (2017): The humanistic burden of Pompe disease: are there still unmet needs? A systematic review. In: BMC Neurology 17:202 [PDF, 873kB]

Schoser, Benedikt (2017): Editorial: a viewpoint on European standards for neuromuscular training, qualification, and certification. In: Current Opinion in Neurology, Vol. 30, No. 5: pp. 521-522

Schoser, Benedikt; Eymard, Bruno; Datt, Joe; Mantegazza, Renato (2017): Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer. In: Journal of Neurology, Vol. 264, No. 9: pp. 1854-1863

Schoser, Benedikt; Eymard, Bruno; Datt, Joe; Mantegazza, Renato (2017): Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer (vol 264, pg 1854, 2017). In: Journal of Neurology, Vol. 264, No. 9: p. 1864

Montagnese, Federica; Klupp, Elisabeth; Karampinos, Dimitrios C.; Biskup, Saskia; Gläser, Dieter; Kirschke, Jan S.; 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, Vol. 56, No. 2: pp. 334-340

Stenzel, Werner; Schoser, Benedikt (2017): Inherited and Acquired Muscle Weakness: A Moving Target for Diagnostic Muscle Biopsy. In: Neuropediatrics, Vol. 48, No. 4: pp. 226-232

Schoser, Benedikt; Stewart, Andrew; Kanters, Steve; Hamed, Alaa; Jansen, Jeroen; Chan, Keith; Karamouzian, Mohammad; Toscano, Antonio (2017): Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. In: Journal of Neurology, Vol. 264, No. 4: pp. 621-630

Schoser, Benedikt; Fong, Edward; Geberhiwot, Tarekegn; Hughes, Derralynn; Kissel, John T.; Madathil, Shyam C.; Orlikowski, David; Polkey, Michael I.; Roberts, Mark; Tiddens, Harm A. W. M.; Young, Peter (2017): Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature. In: Orphanet Journal of Rare Diseases 12:52 [PDF, 459kB]

Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns; Senderek, Jan (2017): Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. In: American Journal of Human Genetics, Vol. 100, No. 3: pp. 523-536 [PDF, 2MB]

Schrank, Bertold; Schoser, Benedikt; Klopstock, Thomas; Schneiderat, Peter; Horvath, Rita; Abicht, Angela; Holinski-Feder, Elke; Augustis, Sarunas (2017): Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency. In: Neuromuscular Disorders, Vol. 27, No. 5: pp. 473-476

Leger, Jean-Marc; Schoser, Benedikt (2017): Editorial introductions. In: Current Opinion in Neurology, Vol. 30, No. 5: V-VI

Ikenberg, Elena; Karin, Ivan; Ertl-Wagner, Birgit; Abicht, Angela; Bulst, Stefanie; Sabine, Krause; Schoser, Benedikt; Reilich, Peter; Walter, Maggie C. (2017): Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient. In: Neuromuscular Disorders, Vol. 27, No. 9: pp. 856-860

Thanh, Phu Le; Meinke, Peter; Korfali, Nadia; Srsen, Vlastimil; Robson, Michael I.; Wehnert, Manfred; Schoser, Benedikt; Sewry, Caroline A.; Schirmer, Eric C. (2017): Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. In: Neuromuscular Disorders, Vol. 27, No. 4: pp. 338-351

Preuße, Corinna; Allenbach, Yves; Hoffmann, Olaf; Goebel, Hans-Hilmar; Pehl, Debora; Radke, Josefine; Doeser, Alexandra; Schneider, Udo; Alten, Rieke H. E.; Kallinich, Tilmann; Benveniste, Olivier; Moers, Arpad von; Schoser, Benedikt; Schara, Ulrike; Stenzel, Werner (2016): Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis. In: Acta Neuropathologica Communications 4:45 [PDF, 2MB]

Pena, Loren; Baron, Richard; Byrne, Barry; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronki, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Vissing, John; Young, Peter; Thurberg, Beth; Culm-Merdek, Kerry; Short, Gerard; Ploeg, Ans van der (2016): Phase 1 exploratory efficacy of the novel enzyme replacement therapy neoGAA in treatment-naive and alglucosidase alfa-treated late-onset Pompe disease patients. In: Molecular Genetics and Metabolism, Vol. 117, No. 2: S92-S92

Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Vissing, John; Young, Peter; Shafi, Raheel; Culm-Merdek, Kerry; Short, Gerard; Pena, Loren (2016): Phase 1 safety and pharmacokinetics of the novel enzyme replacement therapy neoGAA in treatment-naive and alglucosidase alfa-treated late-onset Pompe disease patients. In: Molecular Genetics and Metabolism, Vol. 117, No. 2: S117-S118

Ploeg, Ans van der; Carlier, Pierre G.; Carlier, Robert-Yves; Kissel, John T.; Schoser, Benedikt; Wenninger, Stephan; Pestronk, Alan; Barohn, Richard J.; Dimachkie, Mazen M.; Goker-Alpan, Ozlem; Mozaffar, Tahseen; Pena, Loren D. M.; Simmons, Zachary; Straub, Volker; Guglieri, Michela; Young, Peter; Boentert, Matthias; Baudin, Pierre-Yves; Wens, Stephan; Shafi, Raheel; Bjartmar, Carl; Thurberg, Beth L. (2016): Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. In: Molecular Genetics and Metabolism, Vol. 119, No. 1-2: pp. 115-123

Kuhn, Marius; Gläser, Dieter; Joshi, Pushpa Raj; Zierz, Stephan; Wenninger, Stephan; Schoser, Benedikt; 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, Vol. 263, No. 4: pp. 743-750

Montagnese, Federica; Thiele, Simone; Wenninger, Stephan; Schoser, Benedikt (2016): Long-term whole-body vibration training in two late-onset Pompe disease patients. In: Neurological Sciences, Vol. 37, No. 8: pp. 1357-1360

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; Schoser, Benedikt (2016): Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. In: Neurology, Vol. 87, No. 3: pp. 295-298

Xue, Yuan; Schoser, Benedikt; Rao, Aliz R.; Quadrelli, Roberto; Vaglio, Alicia; Rupp, Verena; Beichler, Christine; Nelson, Stanley F.; Schapacher-Tilp, Gudrun; Windpassinger, Christian; Wilcox, William R. (2016): Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death. In: Circulation-Cardiovascular Genetics, Vol. 9, No. 2: pp. 130-135

Lawlor, Michael W.; Beggs, Alan H.; Buj-Bello, Ana; Childers, Martin K.; Dowling, James J.; James, Emma S.; Meng, Hui; Moore, Steven A.; Prasad, Suyash; Schoser, Benedikt; Sewry, Caroline A. (2016): Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. In: Journal of Neuropathology and Experimental Neurology, Vol. 75, No. 2: pp. 102-110

Schoser, Benedikt (2016): Diagnostic muscle biopsy: is it still needed on the way to a liquid muscle pathology? In: Current Opinion in Neurology, Vol. 29, No. 5: pp. 602-605

Larsen, Mirjam; Kress, Wolfram; Schoser, Benedikt; Hehr, Ute; Müller, Clemens R.; Rost, Simone (2016): Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype. In: European Journal of Human Genetics, Vol. 24, No. 10: pp. 1467-1472

Pena, Loren; Barohn, Richard; Byme, Barry; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Vissing, John; Young, Peter; Thurberg, Beth; Culm-Nlerdek, Kerry; Short, Gerard; Ploeg, Ans van der (2016): Phase 1 Exploratory Efficacy of the Novel Enzyme Replacement Therapy NeoGAA in Treatment-Naive and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients. In: Neurology, Vol. 86

Trivedi, Jaya; Ploeg, Ans van der; Barohn, Richard; Byrne, Barry; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Damme, Philip van; Vissing, John; Young, Peter; Shafi, Raheel; Culm-Merdek, Kerry; Short, Gerard; Pena, Loren (2016): Phase 1 Safety and Pharmacokinetics of the Novel Enzyme Replacement Therapy neoGAA in Treatment-Naive and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients. In: Neurology, Vol. 86

Lukacs, Zoltan; Schoser, Benedikt (2016): Meta-opinion: from screening to diagnosis of Pompe disease - a European perspective. In: Expert Opinion On Orphan Drugs, Vol. 4, No. 10: pp. 1075-1078

Oh, Shin J.; Shcherbakova, Natalya; Kostera-Pruszczyk, Anna; Alsharabati, Mohammad; Dimachkie, Mazen; Munoz Blanco, Jose; Brannagan, Thomas; Lavrnic, Dragana; Shieh, Perry B.; Vial, Christophe; Meisel, Andreas; Komoly, Samuel; Schoser, Benedikt; Sivakumar, Kumaraswamy; So, Yuen (2016): Amifampridine phosphate (Firdapse((R))) is effective and safe in a phase 3 clinical trial in LEMS. In: Muscle & Nerve, Vol. 53, No. 5: pp. 717-725

Schreiber, Olivia; Schneiderat, Peter; Kress, Wolfram; Rautenstrauss, Bernd; Senderek, Jan; Schoser, Benedikt; Walter, Maggie C. (2013): Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A-evidence for "double trouble" overlapping syndromes. In: BMC Medical Genetics 14:92 [PDF, 1MB]

Poparic, Ivana; Schreibmayer, Wolfgang; Schoser, Benedikt; Desoye, Gernot; Gorischek, Astrid; Miedl, Heidi; Hochmeister, Sonja; Binder, Josepha; Quasthoff, Stefan; Wagner, Klaus; Windpassinger, Christian; Malle, Ernst (2011): Four and a half LIM protein 1C (FHL1C). A binding partner for voltage-gated potassium channel K(v1.5).
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