Anzahl der Publikationen: 27
2023
2022
2021
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
2020
2019
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
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
2018
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]
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
2017
2016
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
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
Sun Aug 4 02:38:59 2024 CEST
erstellt.