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Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; Hahn, Andreas; Jones, Simon; Kay, Richard; Kolnikova, Miriam; Arash-Kaps, Laila; Marquardt, Thorsten; Mengel, Eugen; Park, Julien H; Reichmannová, Stella; Schneider, Susanne A; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; ... (2024). Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C. The New England journal of medicine, 390(5), pp. 421-431. Massachusetts Medical Society 10.1056/NEJMoa2310151
Bremova-Ertl, Tatiana; Hofmann, Jan; Stucki, Janine; Vossenkaul, Anja; Gautschi, Matthias (2023). Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. Cells, 12(18) MDPI 10.3390/cells12182314
Bremova-Ertl, Tatiana; Schneider, Susanne (2023). Current advancements in therapy for Niemann-Pick disease: progress and pitfalls. Expert opinion on pharmacotherapy, 24(11), pp. 1229-1247. Informa Healthcare 10.1080/14656566.2023.2215386
Martakis, Kyriakos; Claassen, Jens; Gascon-Bayari, Jordi; Goldschagg, Nicolina; Hahn, Andreas; Hassan, Anhar; Hennig, Anita; Jones, Simon; Kay, Richard; Lau, Heather; Perlman, Susan; Sharma, Reena; Schneider, Susanne; Bremova-Ertl, Tatiana (2023). Efficacy and Safety of N-Acetyl-L-Leucine in Children and Adults With GM2 Gangliosidoses. Neurology, 100(10), e1072-e1083. American Academy of Neurology 10.1212/WNL.0000000000201660
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; Schneider, Susanne A (2022). Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C. Journal of neurology, 269(3), pp. 1651-1662. Springer 10.1007/s00415-021-10717-0
Brueggemann, Adriana; Bicvic, Antonela; Goeldlin, Martina; Kalla, Roger; Kerkeni, Hassen; Mantokoudis, Georgios; Abegg, Mathias; Kolníková, Miriam; Mohaupt, Markus; Bremova-Ertl, Tatiana (2022). Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia. Journal of child neurology, 37(1), pp. 20-27. Sage 10.1177/08830738211028394
Colombo, Alessio; Dinkel, Lina; Müller, Stephan A; Sebastian Monasor, Laura; Schifferer, Martina; Cantuti-Castelvetri, Ludovico; König, Jasmin; Vidatic, Lea; Bremova-Ertl, Tatiana; Lieberman, Andrew P; Hecimovic, Silva; Simons, Mikael; Lichtenthaler, Stefan F; Strupp, Michael; Schneider, Susanne A; Tahirovic, Sabina (2021). Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia. Nature Communications, 12(1), p. 1158. Springer Nature 10.1038/s41467-021-21428-5
Havla, Joachim; Moser, Marlene; Sztatecsny, Clara; Lotz-Havla, Amelie S; Maier, Esther M; Hizli, Baccara; Schinner, Regina; Kümpfel, Tania; Strupp, Michael; Bremova-Ertl, Tatiana; Schneider, Susanne A (2020). Retinal axonal degeneration in Niemann-Pick type C disease. Journal of neurology, 267(7), pp. 2070-2082. Springer-Medizin-Verlag 10.1007/s00415-020-09796-2
Bremova-Ertl, Tatiana; Sztatecsny, Clara; Brendel, Matthias; Moser, Marlene; Möller, Bettina; Clevert, Dirk A; Beck-Wödl, Stefanie; Kun-Rodrigues, Celia; Bras, Jose; Rominger, Axel; Ninov, Dimitar; Strupp, Michael; Schneider, Susanne A (2020). Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity. Neurology, 94(16), e1702-e1715. American Academy of Neurology 10.1212/WNL.0000000000009290
