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Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460
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
Fields, T; Bremova, T M; Billington, I; Churchill, G C; Evans, W; Fields, C; Galione, A; Kay, R; Mathieson, T; Martakis, K; Patterson, M; Platt, F; Factor, M; Strupp, M (2023). N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study. Trials, 24(1), p. 361. BioMed Central 10.1186/s13063-023-07399-6
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
Schneider, Susanne A; Tahirovic, Sabina; Hardy, John; Strupp, Michael; Brémovà-Ertl, Tatiana (2021). Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature. Journal of neurology, 268(6), pp. 2055-2064. Springer-Medizin-Verlag 10.1007/s00415-019-09621-5
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
Fields, T; Patterson, M; Bremova-Ertl, T; Belcher, G; Billington, I; Churchill, G C; Davis, W; Evans, W; Flint, S; Galione, A; Granzer, U; Greenfield, J; Karl, R; Kay, R; Lewi, D; Mathieson, T; Meyer, T; Pangonis, D; Platt, F M; Tsang, L; ... (2021). A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Trials, 22(1), p. 84. BioMed Central 10.1186/s13063-020-05009-3
Brémovà-Ertl, Tatiana; Platt, Frances; Strupp, Michael (2020). Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report. Neuropediatrics, 51(6), pp. 450-452. Thieme 10.1055/s-0040-1715486
Kaya, Ecem; Smith, David A; Smith, Claire; Morris, Lauren; Brémovà-Ertl, Tatiana; Cortina-Borja, Mario; Fineran, Paul; Morten, Karl J; Poulton, Joanna; Boland, Barry; Spencer, John; Strupp, Michael; Platt, Frances M (2020). Acetyl-leucine slows disease progression in lysosomal storage disorders. Brain Communications, 3(1) Oxford University Press 10.1093/braincomms/fcaa148
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
Gandini, J; Manto, Mario; Brémovà-Ertl, T.; Feil, K; Strupp, M (2020). The neurological update: therapies for cerebellar ataxias in 2020. Journal of neurology, 267(4), pp. 1211-1220. Springer-Medizin-Verlag 10.1007/s00415-020-09717-3
Bremova-Ertl, T.; Schankin, C. J. (2020). Visuelle Phänomene bei Migräne: Spektrum, Komplikationen und die wichtigsten Differentialdiagnosen. neuro aktuell, 2020(1), pp. 38-44. Mediengruppe Oberfranken - Fachverlage GmbH & Co. KG
Kraus, Ludwig; Kremmyda, Olympia; Brémovà-Ertl, Tatiana; Barceló, Sebastià; Feil, Katharina; Strupp, Michael (2019). An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders. Orphanet journal of rare diseases, 14(1), p. 193. BioMed Central 10.1186/s13023-019-1164-8
