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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 9
2021
Bremova-Ertl, Tatiana; Abel, Larry; Walterfang, Mark; Salsano, Ettore; Ardissone, Anna; Malinova, Vera; Kolnikova, Miriam; Bayarri, Jordi Gascon; Tavasoli, Ali Reza; Ashrafi, Mahmoud Reza; Amraoui, Yasmina; Mengel, Eugen; Kolb, Stefan A.; Brecht, Andreas; Bardins, Stanislavs und Strupp, Michael
(2021):
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.
In: European Journal of Neurology, Bd. 28, Nr. 9: S. 3040-3050
2020
Hahn, Andreas; Hennermann, Julia B.; Huemer, Martina; Kampmann, Christoph; Marquardt, Thorsten; Mengel, Eugen; Müller-Felber, Wolfgang; Muschol, Nicole Maria; Rohrbach, Marianne und Stehling, Florian
(2020):
Diagnosis and Care of Infants and Children with Pompe Disease.
In: Klinische Pädiatrie, Bd. 232, Nr. 2: S. 55-61
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas und i Dali, Christine
(2020):
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
In: Orphanet Journal of Rare Diseases, Bd. 15, Nr. 1, 328
2018
Cortina-Borja, Mario; te Vruchte, Danielle; Mengel, Eugen; Amraoui, Yasmin; Imrie, Jackie; Jones, Simon A.; Dali, Christine I.; Fineran, Paul; Kirkegaard, Thomas; Runz, Heiko; Lachmann, Robin; Bremova-Ertl, Tatiana; Strupp, Michael und Platt, Frances M.
(2018):
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
In: Orphanet Journal of Rare Diseases
13:143
[PDF, 3MB]
2017
Bremova-Ertl, Tatiana; Schiffmann, Raphael; Patterson, Marc C.; Belmatoug, Nadia; Billette de Villemeur, Thierry; Bardins, Stanislavs; Frenzel, Claudia; Malinová, Věra; Naumann, Silvia; Arndt, Juliane; Mengel, Eugen; Reinke, Jörg; Strobl, Ralf und Strupp, Michael
(2017):
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.
In: Frontiers in Neurology, Bd. 8: S. 1-19
[PDF, 2MB]
2016
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
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