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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 13
Zeitschriftenartikel
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
Bremova-Ertl, Tatiana; Claassen, Jens; Foltan, Tomas; Gascon-Bayarri, Jordi; Gissen, Paul; Hahn, Andreas; Hassan, Anhar; Hennig, Anita; Jones, Simon A.; Kolnikova, Miriam; Martakis, Kyriakos; Raethjen, Jan; Ramaswami, Uma; Sharma, Reena und Schneider, Susanne A.
(2021):
Efficacy and safety of N-acetyl-l-leucine in Niemann-Pick disease type C.
In: Journal of Neurology, Bd. 269, Nr. 3: S. 1651-1662
Brueggemann, Adriana; Bicvic, Antonela; Goeldlin, Martina; Kalla, Roger; Kerkeni, Hassen; Mantokoudis, Georgios; Abegg, Mathias; Kolnikova, Miriam; Mohaupt, Markus und Bremova-Ertl, Tatiana
(2021):
Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia.
In: Journal of Child Neurology, Bd. 37, Nr. 1, 8830738211028394: S. 20-27
Churchill, Grant C.; Strupp, Michael; Factor, Cailley; Bremova-Ertl, Tatiana; Factor, Mallory; Patterson, Marc C.; Platt, Frances M. und Galione, Antony
(2021):
Acetylation turns leucine into a drug by membrane transporter switching.
In: Scientific Reports, Bd. 11, Nr. 1, 15812
Colombo, Alessio; Dinkel, Lina; Mueller, Stephan A.; Monasor, Laura Sebastian; Schifferer, Martina; Cantuti-Castelvetri, Ludovico; Koenig, Jasmin; Vidatic, Lea; Bremova-Ertl, Tatiana; Lieberman, Andrew P.; Hecimovic, Silva; Simons, Mikael; Lichtenthaler, Stefan F.; Strupp, Michael; Schneider, Susanne A. und Tahirovic, Sabina
(2021):
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
In: Nature Communications, Bd. 12, Nr. 1, 1158
[PDF, 7MB]
Havla, Joachim; Moser, Marlene; Sztatecsny, Clara; Lotz-Havla, Amelie S.; Maier, Esther M.; Hizli, Baccara; Schinner, Regina; Kümpfel, Tania; Strupp, Michael; Bremova-Ertl, Tatiana und Schneider, Susanne A,
(2020):
Retinal axonal degeneration in Niemann–Pick type C disease.
In: Journal of Neurology, Bd. 267: S. 2070-2082
[PDF, 1MB]
Bremova-Ertl, Tatiana; Platt, Frances und Strupp, Michael
(2020):
Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report.
In: Neuropediatrics, Bd. 51, Nr. 06: S. 450-452
Bremova-Ertl, Tatiana; Sztatecsny, Clara; Brendel, Matthias; Moser, Marlene; Moeller, Bettina; Clevert, Dirk A.; Beck-Woedl, Stefanie; Kun-Rodrigues, Celia; Bras, Jose; Rominger, Axel; Ninov, Dimitar; Strupp, Michael und Schneider, Susanne A.
(2020):
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
In: Neurology, Bd. 94, Nr. 16, E1702-E1715
Kraus, Ludwig; Kremmyda, Olympia; Bremova-Ertl, Tatiana; Barceló, Sebastià; Feil, Katharina und Strupp, Michael
(2019):
An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders.
In: Orphanet Journal of Rare Diseases
14:193
[PDF, 742kB]
Schneider, Susanne A.; Tahirovic, Sabina; Hardy, John; Strupp, Michael und Bremova-Ertl, Tatiana
(2019):
Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.
In: Journal of Neurology
Goldschagg, Nicolina; Bremova-Ertl, Tatiana; Bardins, Stanislav; Dinca, Nora; Feil, Katharina; Krafczyk, Siegbert; Lorenzl, Stefan und Strupp, Michael
(2019):
No Evidence of a Contribution of the Vestibular System to Frequent Falls in Progressive Supranuclear Palsy.
In: Journal of Clinical Neurology, Bd. 15, Nr. 3: S. 339-346
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]
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]