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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.
Driedger JH, Schröter J; PROTECT-Study Group; Syrbe S, Saffari A. Driedger JH, et al. Among authors: saffari a. Orphanet J Rare Dis. 2025 Jan 6;20(1):2. doi: 10.1186/s13023-024-03495-1. Orphanet J Rare Dis. 2025. PMID: 39762914 Free PMC article.
STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.
Agianda HAP, Tam A, Kunta A, Zubair U, Saffari A, Rong J, Crough M, Srouji R, Quiroz V, Yang K, Schierbaum L, Ebrahimi-Fakhari D. Agianda HAP, et al. Among authors: saffari a. Mov Disord Clin Pract. 2024 Dec 27. doi: 10.1002/mdc3.14322. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 39728009 No abstract available.
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.
Saffari A, Niesert M, Cannet C, Blaschek A, Hahn A, Johannsen J, Kockaya M, Kölbel H, Hoffmann GF, Claus P, Kölker S, Müller-Felber W, Roos A, Schara-Schmidt U, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A. Saffari A, et al. Int J Mol Sci. 2024 Nov 12;25(22):12123. doi: 10.3390/ijms252212123. Int J Mol Sci. 2024. PMID: 39596191 Free PMC article.
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
An update on autophagy disorders.
Dafsari HS, Martinelli D, Saffari A, Ebrahimi-Fakhari D, Fanto M, Dionisi-Vici C, Jungbluth H. Dafsari HS, et al. Among authors: saffari a. J Inherit Metab Dis. 2025 Jan;48(1):e12798. doi: 10.1002/jimd.12798. Epub 2024 Oct 17. J Inherit Metab Dis. 2025. PMID: 39420677 Free PMC article. Review.
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.
Wiseman JP, Scarrott JM, Alves-Cruzeiro J, Saffari A, Böger C, Karyka E, Dawes E, Davies AK, Marchi PM, Graves E, Fernandes F, Yang ZL, Coldicott I, Hirst J, Webster CP, Highley JR, Hackett N, Angyal A, Silva T, Higginbottom A, Shaw PJ, Ferraiuolo L, Ebrahimi-Fakhari D, Azzouz M. Wiseman JP, et al. Among authors: saffari a. EMBO Mol Med. 2024 Nov;16(11):2882-2917. doi: 10.1038/s44321-024-00148-5. Epub 2024 Oct 2. EMBO Mol Med. 2024. PMID: 39358605 Free PMC article.
The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy.
Tapken I, Schweitzer T, Paganin M, Schüning T, Detering NT, Sharma G, Niesert M, Saffari A, Kuhn D, Glynn A, Cieri F, Santonicola P, Cannet C, Gerstner F, Faller KME, Huang YT, Kothary R, Gillingwater TH, Di Schiavi E, Simon CM, Hensel N, Ziegler A, Viero G, Pich A, Claus P. Tapken I, et al. Among authors: saffari a. Brain. 2024 Aug 26:awae272. doi: 10.1093/brain/awae272. Online ahead of print. Brain. 2024. PMID: 39183150
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
Quiroz V, Planas-Serra L, Sveden A, Tam A, Kim HM, Zubair U, Resch D, Saffari A, Danzi MC, Züchner S, Chopra M, Schierbaum L, Pujol A, Eklund EA, Ebrahimi-Fakhari D. Quiroz V, et al. Among authors: saffari a. J Clin Invest. 2024 Jul 11;134(17):e178919. doi: 10.1172/JCI178919. J Clin Invest. 2024. PMID: 38990652 Free PMC article. No abstract available.
114 results