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211 results

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Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.
Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA. Bremova-Ertl T, et al. Among authors: schneider sa. J Neurol. 2022 Mar;269(3):1651-1662. doi: 10.1007/s00415-021-10717-0. Epub 2021 Aug 13. J Neurol. 2022. PMID: 34387740 Free PMC article. Clinical Trial.
Retinal axonal degeneration in Niemann-Pick type C disease.
Havla J, Moser M, Sztatecsny C, Lotz-Havla AS, Maier EM, Hizli B, Schinner R, Kümpfel T, Strupp M, Bremova-Ertl T, Schneider SA. Havla J, et al. Among authors: schneider sa. J Neurol. 2020 Jul;267(7):2070-2082. doi: 10.1007/s00415-020-09796-2. Epub 2020 Mar 28. J Neurol. 2020. PMID: 32222928 Free PMC article.
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
Bremova-Ertl T, Sztatecsny C, Brendel M, Moser M, Möller B, Clevert DA, Beck-Wödl S, Kun-Rodrigues C, Bras J, Rominger A, Ninov D, Strupp M, Schneider SA. Bremova-Ertl T, et al. Among authors: schneider sa. Neurology. 2020 Apr 21;94(16):e1702-e1715. doi: 10.1212/WNL.0000000000009290. Epub 2020 Mar 31. Neurology. 2020. PMID: 32234823
Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome.
Magrinelli F, Mulroy E, Schneider SA, Latorre A, Di Lazzaro G, Hennig A, Grünewald S, De Vivo DC, Bhatia KP. Magrinelli F, et al. Among authors: schneider sa. Neurology. 2020 Sep 15;95(11):500-501. doi: 10.1212/WNL.0000000000010502. Epub 2020 Aug 4. Neurology. 2020. PMID: 32753446 No abstract available.
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
Colombo A, Dinkel L, Müller SA, Sebastian Monasor L, Schifferer M, Cantuti-Castelvetri L, König J, Vidatic L, Bremova-Ertl T, Lieberman AP, Hecimovic S, Simons M, Lichtenthaler SF, Strupp M, Schneider SA, Tahirovic S. Colombo A, et al. Among authors: schneider sa. Nat Commun. 2021 Feb 24;12(1):1158. doi: 10.1038/s41467-021-21428-5. Nat Commun. 2021. PMID: 33627648 Free PMC article.
Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T. Martakis K, et al. Neurology. 2023 Mar 7;100(10):e1072-e1083. doi: 10.1212/WNL.0000000000201660. Epub 2022 Dec 1. Neurology. 2023. PMID: 36456200 Free PMC article. Clinical Trial.
211 results