Anzahl der Publikationen: 18
Zeitschriftenartikel
Kulessa, M.; Weyer-Menkhoff, I; Viergutz, L.; Kornblum, C.; Claeys, K. G.; Schneider, I; Ploeckinger, U.; Young, P.; Boentert, M.; Vielhaber, S.; Mawrin, C.; Bergmann, M.; Weis, J.; Ziagaki, A.; Stenzel, W.; Deschauer, M.; Nolte, D.; Hahn, A.; Schoser, B. und Schaenzer, A.
(2019):
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
In: Neuropathology and Applied Neurobiology, Bd. 46, Nr. 4: S. 359-374
Jimenez-Moreno, A. C.; Raaphorst, J.; Babacic, H.; Wood, L.; Engelen, B. van; Lochmüller, H.; Schoser, B. und Wenninger, S.
(2018):
Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey.
In: Neuromuscular Disorders, Bd. 28, Nr. 3: S. 229-235
Kessler, M.; Kieltsch, A.; Kayvanpour, E.; Katus, H. A.; Schoser, B.; Schessl, J.; Just, S. und Rottbauer, W.
(2018):
A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations.
In: Neuromuscular Disorders, Bd. 28, Nr. 6: S. 521-531
Catarino, C.; Grandjean, A.; Doss, S.; Mücke, M.; Tunc, S.; Schmidt, K.; Schmidt, J.; Young, P.; Bäumer, T.; Kornblum, C.; Endres, M.; Daumke, P.; Klopstock, T. und Schoser, B.
(2017):
mineRARE: Semantic text-mining of electronic medical records as diagnostic decision support tool to search for rare neurologic diseases such as Pompe disease, Fabry disease and Niemann-Pick type C disease.
In: European Journal of Neurology, Bd. 24: S. 75
Palmio, J.; Leonard, S.; Sacconi, S.; Savarese, M.; Semmler, A.; Bach, J.; Kress, W.; Mozaffar, T.; Lai, T.; Stojkovic, T.; Schoser, B.; Walter, M.; Reisin, R.; Berardo, A.; Attarian, S.; Urtizberea, A.; Fatehi, F.; Hackman, P. und Udd, B.
(2017):
Expanding importance of HMERF titinopathy: new mutations and clinical aspects.
In: Neuromuscular Disorders, Bd. 27:
S237-S237
Ploeg, A. T. van der; Kruijshaar, M. E.; Toscano, A.; Laforet, P.; Angelini, C.; Lachmann, R. H.; Pascual Pascual, S. I.; Roberts, M.; Rösler, K.; Stulnig, T.; Doorn, P. A. van; Bergh, P. Y. K. van den; Vissing, J. und Schoser, B.
(2017):
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.
In: European Journal of Neurology, Bd. 24, Nr. 6, 768-E31
Malfatti, E.; Goillot, E.; Streichenberger, N.; Leonard-Louis, S.; Brochier, G.; Madelaine, A.; Labasse, C.; Nadaj-Pakleza, A.; Sacconi, S.; Schoser, B.; Oldfors, A.; Eymard, B.; Romero, N.; Vissing, J. und Laforet, P.
(2017):
Autophagy impairment in muscle biopsies from debranching enzyme deficiency (GSDIII) patients: pinpointing novel therapeutic perspectives.
In: Neuromuscular Disorders, Bd. 27:
S205-S206
Krause, S.; Reichert, S.; Donandt, T.; Kalbe, C.; Schmuck, M.; Klymiuk, N.; Kessler, B.; Blutke, A.; Wolf, E.; Schoser, B. und Walter, M.
(2017):
Molecular therapy in a novel translational large animal model for Duchenne muscular dystrophy.
In: Neuromuscular Disorders, Bd. 27:
S188-S189
Maerkens, A.; Olive, M.; Schreiner, A.; Feldkirchner, S.; Schessl, J.; Uszkoreit, J.; Barkovits, K.; Güttsches, A. K.; Theis, V.; Eisenacher, M.; Tegenthoff, M.; Goldfarb, L. G.; Schröder, R.; Schoser, B.; Ven, P. F. M. van der; Fürst, D. O.; Vorgerd, M.; Marcus, K. und Kley, R. A.
(2016):
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.
In: Acta Neuropathologica Communications
4:8
[PDF, 8MB]
Deschauer, M.; Müller-Reible, C. R.; Rösler, K. M.; Schoser, B.; Wanschitz, J.; Weis, J. und Zierz, S.
(2016):
Diagnostik von Myopathien.
In: Aktuelle Neurologie, Bd. 43, Nr. 10: S. 599-607
Diese Liste wurde am
Sat Dec 21 19:54:49 2024 CET
erstellt.