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215 results

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Page 1
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.
Májovská J, Nestrašil I, Ahmed A, Bondy MT, Klempíř J, Jahnová H, Schneider SA, Horáková D, Krásenský J, Ješina P, Vaneckova M, Nascene DR, Whitley CB, Jarnes JR, Magner M, Dušek P. Májovská J, et al. Among authors: schneider sa. J Inherit Metab Dis. 2024 Mar;47(2):327-339. doi: 10.1002/jimd.12700. Epub 2023 Dec 19. J Inherit Metab Dis. 2024. PMID: 38112342
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannová S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M. Park J, et al. Among authors: schneider sa. J Neurol. 2024 Oct;271(10):6888-6902. doi: 10.1007/s00415-024-12664-y. Epub 2024 Sep 3. J Neurol. 2024. PMID: 39225743 Free PMC article.
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: schneider sa. Sci Transl Med. 2024 Dec 4;16(776):eadl4616. doi: 10.1126/scitranslmed.adl4616. Epub 2024 Dec 4. Sci Transl Med. 2024. PMID: 39630885
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
De Giorgis V, Bhatia KP, Boespflug-Tanguy O, Gras D, Marina AD, Desurkar A, Toledo M, Miller I, Rotstein M, Schneider SA, Tarquinio DC, Weber Y, Brandabur M, Mayhew J, Koutsoukos T, De Vivo DC. De Giorgis V, et al. Among authors: schneider sa. Mov Disord. 2024 Aug;39(8):1386-1396. doi: 10.1002/mds.29822. Epub 2024 May 9. Mov Disord. 2024. PMID: 38725190 Clinical Trial.
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: schneider sa. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
215 results