Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options by Tatiana Bremova-Ertl, Jan Hofmann, Janine Stucki, Anja Vossenkaul, Matthias Gautschi

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An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders by Ludwig Kraus, Olympia Kremmyda, Tatiana Bremova-Ertl, Sebastià Barceló, Katharina Feil, Michael Strupp

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Acetylation turns leucine into a drug by membrane transporter switching by Grant C. Churchill, Michael Strupp, Cailley Factor, Tatiana Bremova-Ertl, Mallory Factor, Marc C. Patterson, Frances M. Platt, Antony Galione

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Acetyl-Leucine slows disease progression in lysosomal storage disorders by Kaya, E, Smith, DE, Smith, C, Morris, L, Bremova-Ertl, T, Cortina-Borja, M, Fineran, P, Morten, KJ, Poulton, J, Spencer, J, Strupp, ML, Platt, F

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials by Cortina-Borja, M, Vruchte, D, Mengel, E, Amraoui, Y, Imrie, J, Jones, SA, Dali, C, Fineran, P, Kirkegaard, T, Runz, H, Lachman, R, Bremova-Ertl, T, Strupp, M, Platt, FM

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials by Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp, Frances M. Platt

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Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia by Alessio Colombo, Lina Dinkel, Stephan A. Müller, Laura Sebastian Monasor, Martina Schifferer, Ludovico Cantuti-Castelvetri, Jasmin König, Lea Vidatic, Tatiana Bremova-Ertl, Andrew P. Lieberman, Silva Hecimovic, Mikael Simons, Stefan F. Lichtenthaler, Michael Strupp, Susanne A. Schneider, Sabina Tahirovic

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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 telangiec... by Fields, T, Patterson, M, Bremova-Ertl, T, Belcher, G, Billington, I, Churchill, GC, 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, FM, Tsang, L, Verburg, C, Factor, M, Strupp, M

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 telangiec... by T. Fields, M. Patterson, T. Bremova-Ertl, G. Belcher, I. Billington, G. C. Churchill, W. Davis, W. Evans, S. Flint, A. Galione, U. Granzer, J. Greenfield, R. Karl, R. Kay, D. Lewi, T. Mathieson, T. Meyer, D. Pangonis, F. M. Platt, L. Tsang, C. Verburg, M. Factor, M. Strupp

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