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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 27

Zeitschriftenartikel

Lukas, Katharina; Gutschmidt, Kristina ORCID logoORCID: https://orcid.org/0000-0001-9891-5919; Schoser, Benedikt ORCID logoORCID: https://orcid.org/0000-0002-2757-8131 und Wenninger, Stephan ORCID logoORCID: 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]

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]

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]

Wenninger, Stephan und Jones, Harrison N. (2021): Hypoventilation syndrome in neuromuscular disorders. In: Current Opinion in Neurology, Bd. 34, Nr. 5: S. 686-696

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

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

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

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

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

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

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

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

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

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

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

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]

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

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

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

Böntert, Matthias; Wenninger, Stephan und Sansone, Valeria A. (2017): Respiratory involvement in neuromuscular disorders. In: Current Opinion in Neurology, Bd. 30, Nr. 5: S. 529-537

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

Boentert, Matthias; Prigent, Helene; Várdi, Katalin; Jones, Harrison N.; Mellies, Uwe; Simonds, Anita K.; Wenninger, Stephan; Barrot Cortés, Emilia und Confalonieri, Marco (2016): Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease. In: International Journal of Molecular Sciences, Bd. 17, Nr. 10, 1735 [PDF, 1MB]

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

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

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

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

Diese Liste wurde am Sat Dec 21 21:22:36 2024 CET erstellt.