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Anzahl der Publikationen: 143
Zeitschriftenartikel
Schoser, Benedikt 
ORCID: https://orcid.org/0000-0002-2757-8131; Attarian, Shahram; Graham, Ryan; Holdbrook, Fred; Goldman, Mitchell und Díaz-Manera, Jordi
(2025):
Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.
In: Journal of Neurology, Bd. 272, 103
[PDF, 844kB]
ORCID: https://orcid.org/0000-0002-2757-8131; Attarian, Shahram; Graham, Ryan; Holdbrook, Fred; Goldman, Mitchell und Díaz-Manera, Jordi
(2025):
Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.
In: Journal of Neurology, Bd. 272, 103
[PDF, 844kB]
Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Kishnani, Priya S.; Bratkovic, Drago; Byrne, Barry J.; Claeys, Kristl G.; Díaz-Manera, Jordi; Laforêt, Pascal; Roberts, Mark; Toscano, Antonio; Ploeg, Ans T. van der; Castelli, Jeff; Goldman, Mitchell; Holdbrook, Fred; Sitaraman Das, Sheela; Wasfi, Yasmine und Mozaffar, Tahseen
(28. Februar 2024):
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
In: Journal of Neurology, Bd. 271, Nr. 5: S. 2810-2823
[PDF, 944kB]
ORCID: https://orcid.org/0000-0002-2757-8131; Kishnani, Priya S.; Bratkovic, Drago; Byrne, Barry J.; Claeys, Kristl G.; Díaz-Manera, Jordi; Laforêt, Pascal; Roberts, Mark; Toscano, Antonio; Ploeg, Ans T. van der; Castelli, Jeff; Goldman, Mitchell; Holdbrook, Fred; Sitaraman Das, Sheela; Wasfi, Yasmine und Mozaffar, Tahseen
(28. Februar 2024):
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
In: Journal of Neurology, Bd. 271, Nr. 5: S. 2810-2823
[PDF, 944kB]
Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Raben, Nina; Varfaj, Fatbardha; Walzer, Mark und Toscano, Antonio
(2024):
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review.
In: Molecular Genetics and Metabolism Reports, Bd. 39, 101085
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-2757-8131; Raben, Nina; Varfaj, Fatbardha; Walzer, Mark und Toscano, Antonio
(2024):
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review.
In: Molecular Genetics and Metabolism Reports, Bd. 39, 101085
[PDF, 1MB]
Schluessel, Sabine ORCID: https://orcid.org/0000-0002-2485-8859; Zhang, Wei; Nowotny, Hanna; Bidlingmaier, Martin ORCID: https://orcid.org/0000-0002-4681-6668; Hintze, Stefan; Kunz, Sonja; Martini, Sebastian; Mehaffey, Stefan; Meinke, Peter; Neuerburg, Carl ORCID: https://orcid.org/0000-0002-1373-093X; Schmidmaier, Ralf; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Reisch, Nicole und Drey, Michael
(2023):
11-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene expression in muscle is linked to reduced skeletal muscle index in sarcopenic patients.
In: Aging Clinical and Experimental Research, Bd. 35, Nr. 12: S. 3073-3083
[PDF, 947kB]
ORCID: https://orcid.org/0000-0002-2485-8859; Zhang, Wei; Nowotny, Hanna; Bidlingmaier, Martin ORCID: https://orcid.org/0000-0002-4681-6668; Hintze, Stefan; Kunz, Sonja; Martini, Sebastian; Mehaffey, Stefan; Meinke, Peter; Neuerburg, Carl ORCID: https://orcid.org/0000-0002-1373-093X; Schmidmaier, Ralf; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Reisch, Nicole und Drey, Michael
(2023):
11-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene expression in muscle is linked to reduced skeletal muscle index in sarcopenic patients.
In: Aging Clinical and Experimental Research, Bd. 35, Nr. 12: S. 3073-3083
[PDF, 947kB]
Lukas, Katharina; Gutschmidt, Kristina ORCID: https://orcid.org/0000-0001-9891-5919; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131 und Wenninger, Stephan ORCID: https://orcid.org/0000-0001-8407-3642
(2023):
Evaluation of myotonometry for myotonia, muscle stiffness and elasticity in neuromuscular disorders.
In: Journal of Neurology, Bd. 270, Nr. 11: S. 5398-5407
[PDF, 922kB]
ORCID: https://orcid.org/0000-0001-9891-5919; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131 und Wenninger, Stephan ORCID: https://orcid.org/0000-0001-8407-3642
(2023):
Evaluation of myotonometry for myotonia, muscle stiffness and elasticity in neuromuscular disorders.
In: Journal of Neurology, Bd. 270, Nr. 11: S. 5398-5407
[PDF, 922kB]
Mijic, Marko; Jung, Andres; Schoser, Benedikt und Young, Peter
(18. November 2022):
Use of peripheral electrical stimulation on healthy individual and patients after stroke and its effects on the somatosensory evoked potentials. A systematic review.
In: Frontiers in Neurology, Bd. 13
[PDF, 909kB]
Watkins, Bridgette; Schuster, Hedwig M.; Gerwin, Laura; Schoser, Benedikt und Kröger, Stephan ORCID: https://orcid.org/0000-0002-4626-1690
(2022):
The effect of methocarbamol and mexiletine on murine muscle spindle function.
In: Muscle & Nerve, Bd. 66, Nr. 1: S. 96-105
[PDF, 4MB]
ORCID: https://orcid.org/0000-0002-4626-1690
(2022):
The effect of methocarbamol and mexiletine on murine muscle spindle function.
In: Muscle & Nerve, Bd. 66, Nr. 1: S. 96-105
[PDF, 4MB]
Sagerer, Elena; Wirner, Corinna; Schoser, Benedikt und Wenninger, Stephan
(2022):
Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study.
In: Journal of Neurology, Bd. 270, Nr. 1: S. 250-261
[PDF, 686kB]
Mijic, Marko; Schoser, Benedikt und Young, Peter
(2022):
Efficacy of functional electrical stimulation in rehabilitating patients with foot drop symptoms after stroke and its correlation with somatosensory evoked potentials-a crossover randomised controlled trial.
In: Neurological Sciences, Bd. 44, Nr. 4: S. 1301-1310
[PDF, 861kB]
Donandt, Tina; Hintze, Stefan; Krause, Sabine; Wolf, Eckhard; Schoser, Benedikt; Walter, Maggie C. und Meinke, Peter
(2022):
Isolation and Characterization of Primary DMD Pig Muscle Cells as an In Vitro Model for Preclinical Research on Duchenne Muscular Dystrophy.
In: Life-Basel, Bd. 12, Nr. 10
[PDF, 3MB]
Schiava, Marianela ORCID: https://orcid.org/0000-0002-2709-265X; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta ORCID: https://orcid.org/0000-0001-9850-8504; Topf, Ana; Nishino, Ichizo ORCID: https://orcid.org/0000-0001-9452-112X; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Zanoteli, Edmar ORCID: https://orcid.org/0000-0002-4991-6760; Sgobbi Souza, Paulo Victor ORCID: https://orcid.org/0000-0002-7416-7108; Tasca, Giorgio ORCID: https://orcid.org/0000-0003-0849-9144; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena ORCID: https://orcid.org/0000-0002-7740-4156; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong ORCID: https://orcid.org/0000-0002-5174-286X; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G. ORCID: https://orcid.org/0000-0001-9937-443X; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N. ORCID: https://orcid.org/0000-0002-2263-7569; Nair, Sruthi S ORCID: https://orcid.org/0000-0001-5463-5229; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan ORCID: https://orcid.org/0000-0001-9009-7261; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan ORCID: https://orcid.org/0000-0002-9033-7568; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad ORCID: https://orcid.org/0000-0002-3816-6124 und Diaz-Manera, Jordi ORCID: https://orcid.org/0000-0003-2941-7988
(2022):
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 93, Nr. 10: S. 1099-1111
ORCID: https://orcid.org/0000-0002-2709-265X; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta ORCID: https://orcid.org/0000-0001-9850-8504; Topf, Ana; Nishino, Ichizo ORCID: https://orcid.org/0000-0001-9452-112X; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Zanoteli, Edmar ORCID: https://orcid.org/0000-0002-4991-6760; Sgobbi Souza, Paulo Victor ORCID: https://orcid.org/0000-0002-7416-7108; Tasca, Giorgio ORCID: https://orcid.org/0000-0003-0849-9144; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena ORCID: https://orcid.org/0000-0002-7740-4156; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong ORCID: https://orcid.org/0000-0002-5174-286X; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina ORCID: https://orcid.org/0000-0001-5151-988X; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G. ORCID: https://orcid.org/0000-0001-9937-443X; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N. ORCID: https://orcid.org/0000-0002-2263-7569; Nair, Sruthi S ORCID: https://orcid.org/0000-0001-5463-5229; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan ORCID: https://orcid.org/0000-0001-9009-7261; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan ORCID: https://orcid.org/0000-0002-9033-7568; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad ORCID: https://orcid.org/0000-0002-3816-6124 und Diaz-Manera, Jordi ORCID: https://orcid.org/0000-0003-2941-7988
(2022):
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 93, Nr. 10: S. 1099-1111
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
Carrasco-Rozas, Ana; Fernandez-Simon, Esther; Suarez-Calvet, Xavier; Pinol-Jurado, Patricia; Alonso-Perez, Jorge; de Luna, Noemi; Schoser, Benedikt; Meinke, Peter; Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Paradas, Carmen; Rivas, Eloy; Illa, Isabel; Olive, Montse; Gallardo, Eduard und Diaz-Manera, Jordi
(2022):
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
In: American Journal of Pathology, Bd. 192, Nr. 8: S. 1151-1166
Hiebeler, Miriam; Reinholz, Markus; Flaig, Michael; Schmidt, Christian; Schoser, Benedikt; Herzinger, Thomas; Abicht, Angela und Reilich, Peter
(2022):
Cutaneous T-cell lymphoma mimicking myopathy with lipoatrophy.
In: Neuromuscular Disorders, Bd. 32, Nr. 1: S. 65-70
Wirner, Corinna; Thiele, Simone; Malm, Eva und Schoser, Benedikt
(2022):
Physiotherapeutische Versorgung von Erwachsenen mit Neuromuskulären Erkrankungen – Online-Befragung von Physiotherapeut*innen im Stadtgebiet München.
In: Fortschritte der Neurologie - Psychiatrie, Bd. 91, Nr. 9: S. 351-359
Guettsches, Anne-Katrin; Meyer, Nancy; Zahedi, Rene P.; Evangelista, Teresinha; Muentefering, Thomas; Ruck, Tobias; Lacene, Emmanuelle; Heute, Christoph; Gonczarowska-Jorge, Humberto; Schoser, Benedikt; Krause, Sabine; Hentschel, Andreas; Vorgerd, Matthias und Roos, Andreas
(2022):
FYCO1 Increase and Effect of Arimoclomol-Treatment in Human VCP-Pathology.
In: Biomedicines, Bd. 10, Nr. 10, 2443
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]
Hintze, Stefan; Baber, Lisa; Hofmeister, Fabian; Jarmusch, Stefanie; Todorow, Vanessa; Mehaffey, Stefan; Tanganelli, Fabiana; Ferrari, Uta; Neuerburg, Carl; Teupser, Daniel; Bidlingmaier, Martin; Marques, Jair Gonzalez; Koletzko, Berthold; Schoser, Benedikt; Drey, Michael und Meinke, Peter
(2022):
Exploration of mitochondrial defects in sarcopenic hip fracture patients.
In: Heliyon, Bd. 8, Nr. 10, e11143
Zhang, Li; Dietsche, Felicia; Seitaj, Bruno; Rojas-Charry, Liliana; Latchman, Nadina; Tomar, Dhanendra; Wust, Rob C. I.; Nickel, Alexander; Frauenknecht, Katrin B. M.; Schoser, Benedikt; Schumann, Sven; Schmeisser, Michael J.; Vom Berg, Johannes; Buch, Thorsten; Finger, Stefanie; Wenzel, Philip; Maack, Christoph; Elrod, John W.; Parys, Jan B.; Bultynck, Geert und Methner, Axel
(2022):
TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy.
In: Life Science Alliance, Bd. 5, Nr. 10, e202201478
Schoser, Benedikt
(2022):
Molecular Therapies of Hereditary Myopathies in Adulthood - a Cursive Overview.
In: Fortschritte der Neurologie - Psychiatrie, Bd. 91, Nr. 4: S. 164-168
Hiebeler, Miriam; Franke, Raimo; Ingenerf, Maria; Krause, Sabine; Mohassel, Payam; Pak, Katherine; Mammen, Andrew; Schoser, Benedikt; Boennemann, Carsten G. und Walter, Maggie C.
(2022):
Slowly Progressive Limb-Girdle Weakness and HyperCKemia - Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 5: S. 607-614
Dimachkie, Mazen M.; Barohn, Richard J.; Byrne, Barry; Goker-Alpan, Ozlem; Kishnani, Priya S.; Ladha, Shafeeq; Laforet, Pascal; Mengel, Karl Eugen; Pena, Loren D. M.; Sacconi, Sabrina; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Ploeg, Ans T. van der; Vissing, John; Young, Peter; Haack, Kristina An; Foster, Meredith; Gilbert, Jane M.; Miossec, Patrick; Vitse, Olivier; Zhou, Tianyue und Schoser, Benedikt
(2022):
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease.
In: Neurology, Bd. 99, Nr. 5, E536-E548
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
Pizzamiglio, Chiara; Pitceathly, Robert D. S.; Lunn, Michael P.; Brady, Stefen; De Marchi, Fabiola; Galan, Lucia; Heckmann, Jeannine M.; Horga, Alejandro; Molnar, Maria J.; Oliveira, Acary S. B.; Pinto, Wladimir B. V. R.; Primiano, Guido; Santos, Ernestina; Schoser, Benedikt; Servidei, Serenella; Souza, Paulo V. Sgobbi; Venugopalan, Vishnu; Hanna, Michael G.; Dimachkie, Mazen M. und Machado, Pedro M.
(2022):
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
In: European Journal of Neurology, Bd. 30, Nr. 2: S. 399-412
Schoser, Benedikt und Laforet, Pascal
(2022):
Therapeutic thoroughfares for adults living with Pompe disease.
In: Current Opinion in Neurology, Bd. 35, Nr. 5: S. 645-650
de las Heras, Jose I.; Todorow, Vanessa; Krecinic-Balic, Lejla; Hintze, Stefan; Czapiewski, Rafal; Webb, Shaun; Schoser, Benedikt; Meinke, Peter und Schirmer, Eric C.
(2022):
Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees.
In: Human Molecular Genetics, Bd. 32, Nr. 6: S. 1010-1031
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
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
Hintze, Stefan; Mensel, Raphaela; Knaier, Lisa; Schoser, Benedikt und Meinke, Peter
(28. Juni 2021):
CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1.
In: Frontiers in Neuroscience, Bd. 15, 686735
[PDF, 1MB]
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
[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: https://orcid.org/0000-0002-2757-8131 und Drey, Michael
(2021):
Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia.
In: BMC neurology, Bd. 21, Nr. 1, 241
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-2757-8131 und Drey, Michael
(2021):
Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia.
In: BMC neurology, Bd. 21, Nr. 1, 241
[PDF, 1MB]
Jarmusch, Stefanie; Baber, Lisa; Bidlingmaier, Martin ORCID: https://orcid.org/0000-0002-4681-6668; Ferrari, Uta; Hofmeister, Fabian; Hintze, Stefan; Mehaffey, Stefan; Meinke, Peter; Neuerburg, Carl; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Tanganelli, Fabiana und Drey, Michael
(2021):
Influence of IGF-I serum concentration on muscular regeneration capacity in patients with sarcopenia.
In: BMC musculoskeletal disorders, Bd. 22, Nr. 1, 807
[PDF, 830kB]
ORCID: https://orcid.org/0000-0002-4681-6668; Ferrari, Uta; Hofmeister, Fabian; Hintze, Stefan; Mehaffey, Stefan; Meinke, Peter; Neuerburg, Carl; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Tanganelli, Fabiana und Drey, Michael
(2021):
Influence of IGF-I serum concentration on muscular regeneration capacity in patients with sarcopenia.
In: BMC musculoskeletal disorders, Bd. 22, Nr. 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 und Hoen, Peter A. C. 't
(2021):
Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.
In: Journal of Neuromuscular Diseases, Bd. 8, Nr. 6: S. 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. und 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, Bd. 20, Nr. 12: S. 1012-1026
Ferrari, Uta; Schmidmaier, Ralf; Jung, Theresa; Reincke, Martin; Martini, Sebastian; Schoser, Benedikt; Bidlingmaier, Martin und 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, Bd. 106, Nr. 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. 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
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
Hahn, Andreas; Lampe, Christina; Boentert, Matthias; Hundsberger, Thomas; Loescher, Wolfgang; Wenninger, Stephan; Ziegler, Andreas; Lagler, Florian; Ballhausen, Diana; Schlegel, Thomas und Schoser, Benedikt
(2021):
Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum.
In: Fortschritte der Neurologie Psychiatrie, Bd. 89, Nr. 12: S. 630-636
Hofmeister, Fabian; Baber, Lisa; Ferrari, Uta; Hintze, Stefan; Jarmusch, Stefanie; Krause, Sabine; Meinke, Peter; Mehaffey, Stefan; Neuerburg, Carl; Tangenelli, Fabiana; Schoser, Benedikt und Drey, Michael
(2021):
Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia.
In: BMC Neurology, Bd. 21, Nr. 1, 241
Jarmusch, Stefanie; Baber, Lisa; Bidlingmaier, Martin; Ferrari, Uta; Hofmeister, Fabian; Hintze, Stefan; Mehaffey, Stefan; Meinke, Peter; Neuerburg, Carl; Schoser, Benedikt; Tanganelli, Fabiana und Drey, Michael
(2021):
Influence of IGF-I serum concentration on muscular regeneration capacity in patients with sarcopenia.
In: BMC Musculoskeletal Disorders, Bd. 22, Nr. 1, 807
Korinthenberg, Rudolf; Trollmann, Regina; Plecko, Barbara; Stettner, Georg M.; Blankenburg, Markus; Weis, Joachim; Schoser, Benedikt; Mueller-Felber, Wolfgang; Lochbuehler, Nina; Hahn, Gabriele und Rudnik-Schoeneborn, Sabine
(2021):
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines.
In: Children-Basel, Bd. 8, Nr. 8, 687
Lehmann, Helmar C.; Schoser, Benedikt; Wunderlich, Gilbert; Berlit, Peter und Fink, Gereon R.
(2021):
Neuromuskuläre Komplikationen einer SARS-CoV-2-Infektion – Teil 2: Erkrankungen der Muskulatur.
In: Nervenarzt, Bd. 92, Nr. 6: S. 548-555
Lehmann, Helmar C.; Schoser, Benedikt; Wunderlich, Gilbert; Berlit, Peter und Fink, Gereon R.
(2021):
Neuromuskuläre Komplikationen einer SARS-CoV-2-Infektion – Teil 1: periphere Nerven.
In: Nervenarzt, Bd. 92, Nr. 6: S. 540-547
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
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
Schoser, Benedikt
(2021):
Welche Therapieversuche sollten bei Einschlusskörpermyositis unternommen werden?
In: Zeitschrift für Rheumatologie, Bd. 80, Nr. 4: S. 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 und 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, Bd. 20, Nr. 12: S. 1027-1037
Tanganelli, Fabiana; Meinke, Peter; Hofmeister, Fabian; Jarmusch, Stefanie; Baber, Lisa; Mehaffey, Stefan; Hintze, Stefan; Ferrari, Uta; Neuerburg, Carl; Kammerlander, Christian; Schoser, Benedikt und Drey, Michael
(2021):
Type-2 muscle fiber atrophy is associated with sarcopenia in elderly men with hip fracture.
In: Experimental Gerontology, Bd. 144, 111171
Todorow, Vanessa; Hintze, Stefan; Kerr, Alastair R. W.; Hehr, Andreas; Schoser, Benedikt und Meinke, Peter
(2021):
Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1.
In: International Journal of Molecular Sciences, Bd. 22, Nr. 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 und Schoser, Benedikt
(2021):
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1.
In: Neurology-Genetics, Bd. 7, Nr. 2, e572
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
Hintze, Stefan; Dabrowska‐Schlepp, Paulina; Berg, Birgit; Graupner, Alexandra; Busch, Andreas; Schaaf, Andreas; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131 und Meinke, Peter ORCID: https://orcid.org/0000-0003-3359-3837
(2021):
Uptake of moss‐derived human recombinant GAA in Gaa−/− mice.
In: JIMD Reports, Bd. 59, Nr. 1: S. 81-89
[PDF, 9MB]
ORCID: https://orcid.org/0000-0002-2757-8131 und Meinke, Peter ORCID: https://orcid.org/0000-0003-3359-3837
(2021):
Uptake of moss‐derived human recombinant GAA in Gaa−/− mice.
In: JIMD Reports, Bd. 59, Nr. 1: S. 81-89
[PDF, 9MB]
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]
Gutschmidt, K.; Wenninger, S.; Montagnese, F. und Schoser, Benedikt
(2020):
Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis.
In: Journal of neurology, Bd. 268: S. 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. 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
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
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 und 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, Bd. 51, 102587
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
Wenninger, Stephan; Stahl, Kristina; Wirner, Corinna; Einvag, Krisztina; Thiele, Simone; Walter, Maggie C. und 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, Bd. 30, Nr. 8: S. 640-648
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
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 und Diaz-Manera, Jordi
(2020):
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
In: Brain, Bd. 143: S. 2696-2708
Krenovsky, Jan-Peter; Bötzel, Kai; Ceballos-Baumann, Andres; Fietzek, Urban M.; Schoser, Benedikt; Maetzler, Walter; Ferrari, Uta und Drey, Michael
(2020):
Interrelation between Sarcopenia and the Number of Motor Neurons in Patients with Parkinsonian Syndromes.
In: Gerontology, Bd. 66, Nr. 4: S. 409-415
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
Kurkiewicz, Adam; Cooper, Anneli; Mcllwaine, Emily; Cumming, Sarah A.; Adam, Bent; Krahe, Ralf; Puymirat, Jack; Schoser, Benedikt ORCID: https://orcid.org/0000-0002-2757-8131; Timchenko, Lubov; Ashizawa, Tetsuo; Thornton, Charles A.; Rogers, Simon; McClure, John D. und 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]
ORCID: https://orcid.org/0000-0002-2757-8131; Timchenko, Lubov; Ashizawa, Tetsuo; Thornton, Charles A.; Rogers, Simon; McClure, John D. und 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 und 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, Bd. 21, Nr. 7, 2642
Wansink, Derick G.; Gourdon, Genevieve; Engelen, Baziel G. M. van und 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, Bd. 30, Nr. 6: S. 521-531
Stahl, Kristina; Rastelli, Emanuele und Schoser, Benedikt
(2020):
A systematic review on the definition of rhabdomyolysis.
In: Journal of Neurology, Bd. 267, Nr. 4: S. 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. 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
Schoser, Benedikt; Hahn, Andreas; James, Emma; Gupta, Digant; Gitlin, Matthew und Prasad, Suyash
(2019):
A Systematic Review of the Health Economics of Pompe Disease.
In: Pharmacoeconomics-Open, Bd. 3, Nr. 4: S. 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. und Dumont, Nicolas A.
(2019):
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
In: Genetics in Medicine, Bd. 21, Nr. 11: S. 2521-2531
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
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. und Monckton, Darren G.
(2019):
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.
In: Neurology, Bd. 93, Nr. 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 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
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
Hundsberger, Thomas; Schoser, Benedikt; Leupold, Daniela; Rosler, Kai Michael und 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, Bd. 266, Nr. 8: S. 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 und 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, Bd. 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 und Maynadier, Marie
(2019):
Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease.
In: Journal of Cellular and Molecular Medicine, Bd. 23, Nr. 9: S. 6499-6503
Meinke, Peter; Limmer, Sarah; Hintze, Stefan und Schoser, Benedikt
(2019):
Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease.
In: Annals of Translational Medicine, Bd. 7, Nr. 13, 277
Schoser, Benedikt
(2019):
Pompe disease: what are we missing?
In: Annals of Translational Medicine, Bd. 7, Nr. 13, 292
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
Ikenberg, Elena; Reilich, Peter; Abicht, Angela; Heller, Corina; Schoser, Benedikt und 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, Bd. 29, Nr. 5: S. 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. und Pijnappel, W. W. M. Pim
(2019):
A genetic modifier of symptom onset in Pompe disease.
In: Ebiomedicine, Bd. 43: S. 553-561
Babacic, Haris; Mehta, Aditi; Merkel, Olivia und 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]
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 und Kierkegaard, Marie
(2019):
Structural white matter networks in myotonic dystrophy type 1.
In: Neuroimage-Clinical, Bd. 21, UNSP 101615
Wenninger, Stephan; Greckl, Eva; Babacic, Haris; Stahl, Kristina und 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, Bd. 266, Nr. 1: S. 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 und Drey, Michael
(2019):
Sarcopenia - Endocrinological and Neurological Aspects.
In: Experimental and Clinical Endocrinology & Diabetes, Bd. 127, Nr. 1: S. 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 und 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, Bd. 7, Nr. 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 und 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, Bd. 29, Nr. 3: S. 167-186
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
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 und 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, Bd. 28, Nr. 8: S. 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 und Senderek, Jan
(2018):
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
In: EMBO Journal, Bd. 37, Nr. 23, e100540
Meinke, Peter; Hintze, Stefan; Limmer, Sarah und Schoser, Benedikt
(2018):
Myotonic Dystrophy-A Progeroid Disease?
In: Frontiers in Neurology, Bd. 9, 601
[PDF, 1MB]
Hintze, Stefan; Knaier, Lisa; Limmer, Sarah; Schoser, Benedikt und Meinke, Peter
(2018):
Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1.
In: Frontiers in Physiology, Bd. 9, 1532
[PDF, 1MB]
Sommer, Claudia; Geber, Christian; Young, Peter; Forst, Raimund; Birklein, Frank und Schoser, Benedikt
(2018):
Polyneuropathies. Etiology, Diagnosis, and Treatment Options.
In: Deutsches Ärzteblatt International, Bd. 115, Nr. 6: S. 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 und 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, Bd. 17, Nr. 8: S. 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. 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]
Wenninger, Stephan; Montagnese, Federica und Schoser, Benedikt
(2018):
Core Clinical Phenotypes in Myotonic Dystrophies.
In: Frontiers in Neurology, Bd. 9, 303
[PDF, 663kB]
Wenninger, Stephan und Schoser, Benedikt
(2018):
Das Anti-IgLON5-Syndrom – Was ist unser aktueller Wissensstand?
In: Fortschritte der Neurologie, Psychiatrie, Bd. 86, Nr. 9: S. 559-565
Montagnese, Federica und Schoser, Benedikt
(2018):
Dystrophische und nicht-dystrophische Myotonien.
In: Fortschritte der Neurologie, Psychiatrie, Bd. 86, Nr. 9: S. 575-583
Schneider-Gold, Christiane; Schoser, Benedikt; Ellrichmann, Gisa; Quasthoff, Stefan; Lehmann-Horn, Frank und Sinnreich, Michael
(2018):
Myotone Dystrophien, nicht dystrophe Myotonien und periodische Paralysen.
In: Aktuelle Neurologie, Bd. 45, Nr. 3: S. 167-177
Wenninger, Stephan und Schoser, Benedikt
(2018):
Myasthenia gravis: aktuelle Antikörperdiagnostik und Aspekte zum therapierefraktären Verlauf.
In: Fortschritte der Neurologie, Psychiatrie, Bd. 86, Nr. 9: S. 551-558
Walter, Maggie C. und Schoser, Benedikt
(2018):
Neue Therapien der spinalen Muskelatrophie.
In: Aktuelle Neurologie, Bd. 45, Nr. 8: S. 617-624
Wood, Libby; Bassez, Guillaume; Engelen, Baziel van; Lochmüller, Harms und 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, Bd. 28, Nr. 5: S. 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 und Winblad, Stefan
(2018):
Consensus-based care recommendations for adults with myotonic dystrophy type 1.
In: Neurology - Clinical Practice, Bd. 8, Nr. 6: S. 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 und Baumann, Matthias
(2018):
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.
In: Neurology, Bd. 91, Nr. 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 und Charlet-Berguerand, Nicolas
(2018):
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.
In: Nature Communications, Bd. 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. 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]
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
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 und 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 und Schröder, Rolf
(2018):
Einschlusskörpermyopathie, Paget-Krankheit und frontotemporale Demenz: eine VCP-bedingte, multisystemische Proteinopathie.
In: Fortschritte der Neurologie Psychiatrie, Bd. 86, Nr. 7: S. 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 und Edbauer, Dieter
(2017):
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.
In: Acta Neuropathologica, Bd. 134, Nr. 2: S. 241-254
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
Schoser, Benedikt; Bilder, Deborah A.; Dimmock, David; Gupta, Digant; James, Emma S. und 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, Bd. 30, Nr. 5: S. 521-522
Schoser, Benedikt; Eymard, Bruno; Datt, Joe und Mantegazza, Renato
(2017):
Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.
In: Journal of Neurology, Bd. 264, Nr. 9: S. 1854-1863
Schoser, Benedikt; Eymard, Bruno; Datt, Joe und 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, Bd. 264, Nr. 9: S. 1864
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
Stenzel, Werner und Schoser, Benedikt
(2017):
Inherited and Acquired Muscle Weakness: A Moving Target for Diagnostic Muscle Biopsy.
In: Neuropediatrics, Bd. 48, Nr. 4: S. 226-232
Schoser, Benedikt; Stewart, Andrew; Kanters, Steve; Hamed, Alaa; Jansen, Jeroen; Chan, Keith; Karamouzian, Mohammad und 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, Bd. 264, Nr. 4: S. 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. und 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 und 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, Bd. 100, Nr. 3: S. 523-536
[PDF, 2MB]
Schrank, Bertold; Schoser, Benedikt; Klopstock, Thomas; Schneiderat, Peter; Horvath, Rita; Abicht, Angela; Holinski-Feder, Elke und 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, Bd. 27, Nr. 5: S. 473-476
Leger, Jean-Marc und Schoser, Benedikt
(2017):
Editorial introductions.
In: Current Opinion in Neurology, Bd. 30, Nr. 5:
V-VI
Ikenberg, Elena; Karin, Ivan; Ertl-Wagner, Birgit; Abicht, Angela; Bulst, Stefanie; Sabine, Krause; Schoser, Benedikt; Reilich, Peter und Walter, Maggie C.
(2017):
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.
In: Neuromuscular Disorders, Bd. 27, Nr. 9: S. 856-860
Thanh, Phu Le; Meinke, Peter; Korfali, Nadia; Srsen, Vlastimil; Robson, Michael I.; Wehnert, Manfred; Schoser, Benedikt; Sewry, Caroline A. und 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, Bd. 27, Nr. 4: S. 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 und 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 und 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, Bd. 117, Nr. 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 und 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, Bd. 117, Nr. 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 und 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, Bd. 119, Nr. 1-2: S. 115-123
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
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
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
Xue, Yuan; Schoser, Benedikt; Rao, Aliz R.; Quadrelli, Roberto; Vaglio, Alicia; Rupp, Verena; Beichler, Christine; Nelson, Stanley F.; Schapacher-Tilp, Gudrun; Windpassinger, Christian und 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, Bd. 9, Nr. 2: S. 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 und Sewry, Caroline A.
(2016):
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.
In: Journal of Neuropathology and Experimental Neurology, Bd. 75, Nr. 2: S. 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, Bd. 29, Nr. 5: S. 602-605
Larsen, Mirjam; Kress, Wolfram; Schoser, Benedikt; Hehr, Ute; Müller, Clemens R. und Rost, Simone
(2016):
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.
In: European Journal of Human Genetics, Bd. 24, Nr. 10: S. 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 und 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, Bd. 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 und 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, Bd. 86
Lukacs, Zoltan und Schoser, Benedikt
(2016):
Meta-opinion: from screening to diagnosis of Pompe disease - a European perspective.
In: Expert Opinion On Orphan Drugs, Bd. 4, Nr. 10: S. 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 und So, Yuen
(2016):
Amifampridine phosphate (Firdapse((R))) is effective and safe in a phase 3 clinical trial in LEMS.
In: Muscle & Nerve, Bd. 53, Nr. 5: S. 717-725
Schreiber, Olivia; Schneiderat, Peter; Kress, Wolfram; Rautenstrauss, Bernd; Senderek, Jan; Schoser, Benedikt und 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 und Malle, Ernst
(2011):
Four and a half LIM protein 1C (FHL1C). A binding partner for voltage-gated potassium channel K(v1.5).
In: PLOS ONE 6(10), e26524 [PDF, 1MB]
In: PLOS ONE 6(10), e26524 [PDF, 1MB]