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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: casadei n. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice.
Casadei N, Pöhler AM, Tomás-Zapico C, Torres-Peraza J, Schwedhelm I, Witz A, Zamolo I, De Heer R, Spruijt B, Noldus LP, Klucken J, Lucas JJ, Kahle PJ, Krüger R, Riess O, Nuber S. Casadei N, et al. Hum Mol Genet. 2014 Feb 1;23(3):767-81. doi: 10.1093/hmg/ddt467. Epub 2013 Sep 24. Hum Mol Genet. 2014. PMID: 24064336
Overexpression of the calpain-specific inhibitor calpastatin reduces human alpha-Synuclein processing, aggregation and synaptic impairment in [A30P]αSyn transgenic mice.
Diepenbroek M, Casadei N, Esmer H, Saido TC, Takano J, Kahle PJ, Nixon RA, Rao MV, Melki R, Pieri L, Helling S, Marcus K, Krueger R, Masliah E, Riess O, Nuber S. Diepenbroek M, et al. Among authors: casadei n. Hum Mol Genet. 2014 Aug 1;23(15):3975-89. doi: 10.1093/hmg/ddu112. Epub 2014 Mar 11. Hum Mol Genet. 2014. PMID: 24619358 Free PMC article.
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
Pogoda M, Hilke FJ, Lohmann E, Sturm M, Lenz F, Matthes J, Muyas F, Ossowski S, Hoischen A, Faust U, Sepahi I, Casadei N, Poths S, Riess O, Schroeder C, Grundmann K. Pogoda M, et al. Among authors: casadei n. Front Neurol. 2019 Dec 18;10:1332. doi: 10.3389/fneur.2019.01332. eCollection 2019. Front Neurol. 2019. PMID: 31920950 Free PMC article.
83 results