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Page 1
Myeloid cell-specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.
Dinkel L, Hummel S, Zenatti V, Malara M, Tillmann Y, Colombo A, Monasor LS, Suh JH, Logan T, Roth S, Paeger L, Hoffelner P, Bludau O, Schmidt A, Müller SA, Schifferer M, Nuscher B, Njavro JR, Prestel M, Bartos LM, Wind-Mark K, Slemann L, Hoermann L, Kunte ST, Gnörich J, Lindner S, Simons M, Herms J, Paquet D, Lichtenthaler SF, Bartenstein P, Franzmeier N, Liesz A, Grosche A, Bremova-Ertl T, Catarino C, Beblo S, Bergner C, Schneider SA, Strupp M, Di Paolo G, Brendel M, Tahirovic S. Dinkel L, et al. Among authors: strupp m. Sci Transl Med. 2024 Dec 4;16(776):eadl4616. doi: 10.1126/scitranslmed.adl4616. Epub 2024 Dec 4. Sci Transl Med. 2024. PMID: 39630885
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: strupp m. Nat Commun. 2021 Feb 24;12(1):1158. doi: 10.1038/s41467-021-21428-5. Nat Commun. 2021. PMID: 33627648 Free PMC article.
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: strupp m. 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: strupp m. Neurology. 2020 Apr 21;94(16):e1702-e1715. doi: 10.1212/WNL.0000000000009290. Epub 2020 Mar 31. Neurology. 2020. PMID: 32234823
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM. Cortina-Borja M, et al. Among authors: strupp m. Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9. Orphanet J Rare Dis. 2018. PMID: 30115089 Free PMC article.
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.
Bremova-Ertl T, Abel L, Walterfang M, Salsano E, Ardissone A, Malinová V, Kolníková M, Gascón Bayarri J, Reza Tavasoli A, Reza Ashrafi M, Amraoui Y, Mengel E, Kolb SA, Brecht A, Bardins S, Strupp M. Bremova-Ertl T, et al. Among authors: strupp m. Eur J Neurol. 2021 Sep;28(9):3040-3050. doi: 10.1111/ene.14955. Epub 2021 Jul 12. Eur J Neurol. 2021. PMID: 34096670 Free PMC article.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: strupp m. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
479 results