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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
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
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
