Anzahl der Publikationen: 5
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
Prukop, T.; Garcia-Angarita, N.; König, L. S.; Pieper, D.; Draeger, B.; Thiele, S.; Hüttemann, D.; Schlotter-Weigel, B.; Walter, M. C.; Young, P. und Sereda, M. W.
(2017):
The German Charcot-Marie-Tooth Disease Network (CMT-Net): Disease Severity and Prognostic Biomarkers from Blood and Skin of Cmt1a Patients.
In: Journal of the Peripheral Nervous System, Bd. 22, Nr. 3: S. 363-364
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
Fledrich, R.; Mannil, M.; Leha, A.; Solari, A.; Pelayo-Negro, A. L.; Berciano, J.; Schlotter-Weigel, B.; Schnizer, T. J.; Angarita, N. G.; Haberlova, J.; Mazanec, R.; Paulus, Walter; Beissbarth, T.; Walter, M. C.; Hogrel, J.; Dubourg, O.; Schenone, A.; Baets, J.; De Jonghe, P.; Shy, M. E.; Horvath, R.; Pareyson, D.; Seeman, P.; Young, P. und Sereda, M. W.
(2016):
Biomarkers in Charcot-Marie-tooth disease 1a.
In: Journal of the Peripheral Nervous System, Bd. 21, Nr. 3: S. 256-257
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