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Page 1
Selective thyroid hormone receptor-beta activation: a strategy for reduction of weight, cholesterol, and lipoprotein (a) with reduced cardiovascular liability.
Grover GJ, Mellström K, Ye L, Malm J, Li YL, Bladh LG, Sleph PG, Smith MA, George R, Vennström B, Mookhtiar K, Horvath R, Speelman J, Egan D, Baxter JD. Grover GJ, et al. Among authors: horvath r. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):10067-72. doi: 10.1073/pnas.1633737100. Epub 2003 Jul 29. Proc Natl Acad Sci U S A. 2003. PMID: 12888625 Free PMC article.
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: horvath r. Nat Med. 2025 Jan 17. doi: 10.1038/s41591-024-03420-w. Online ahead of print. Nat Med. 2025. PMID: 39825153
Biomarkers in Ataxia-Telangiectasia: a Systematic Review.
Tiet MY, Guțu BI, Springall-Jeggo P, Coman D, Willemsen M, Van Os N, Doria M, Donath H, Schubert R, Dineen RA, Biagiotti S, Prayle AP, Group ATBW, Hensiek AE, Horvath R. Tiet MY, et al. Among authors: horvath r. J Neurol. 2025 Jan 15;272(2):110. doi: 10.1007/s00415-024-12766-7. J Neurol. 2025. PMID: 39812834 Free PMC article. Review.
Frequency and categorization of presleep fantasies.
Szente A, Alhour HA, Áfra E, Arató Á, Dudás B, Szűcs A, Horváth R, Kovács N, Darnai G, Janszky J. Szente A, et al. Among authors: horvath r. Sci Rep. 2024 Dec 30;14(1):31975. doi: 10.1038/s41598-024-83642-7. Sci Rep. 2024. PMID: 39738659 Free PMC article.
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Folland C, Perić S, Fahmy N, Udd B, Horakova M, Łusakowska A, Manoj R, Nalini A, Karcagi V, Polavarapu K, Lochmüller H, Horvath R, Bönnemann CG, Donkervoort S, Haliloğlu G, Herguner O, Kang PB, Ravenscroft G, Laing N, Scott HS, Töpf A, Straub V, Pajusalu S, Õunap K, Tiao G, Rehm HL, O'Donnell-Luria A. Weisburd B, et al. Among authors: horvath r. Genet Med. 2024 Dec 9:101336. doi: 10.1016/j.gim.2024.101336. Online ahead of print. Genet Med. 2024. PMID: 39670433
OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution.
Macuada J, Molina-Riquelme I, Vidal G, Pérez-Bravo N, Vásquez-Trincado C, Aedo G, Lagos D, Yu-Wai-Man P, Horvath R, Rudge TJ, Cartes-Saavedra B, Eisner V. Macuada J, et al. Among authors: horvath r. Cell Death Dis. 2024 Nov 30;15(11):870. doi: 10.1038/s41419-024-07165-9. Cell Death Dis. 2024. PMID: 39616197 Free PMC article.
777 results