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Page 1
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Frezatti RSS, Tomaselli PJ, Record CJ, Wilson LA, Alves GM, Dominik N, Efthymiou S, Patel K, Vandrovcova J, Männikkö R, Pitceathly RDS, Sobreira CFDR, McFarland R, Taylor RW, Houlden H, Hanna MG, Reilly MM, Marques W. Frezatti RSS, et al. Among authors: dominik n. Brain Commun. 2024 Nov 14;6(6):fcae342. doi: 10.1093/braincomms/fcae342. eCollection 2024. Brain Commun. 2024. PMID: 39544699 Free PMC article.
Letter: The Prognostic Role of IGF-1 in Chronic Liver Disease-Authors' Reply.
Hartl L, Schwarz M, Simbrunner B, Jachs M, Wolf P, Bauer DJM, Scheiner B, Balcar L, Semmler G, Hofer BS, Dominik N, Marculescu R, Trauner M, Mandorfer M, Reiberger T. Hartl L, et al. Among authors: dominik n. Aliment Pharmacol Ther. 2024 Nov 3. doi: 10.1111/apt.18368. Online ahead of print. Aliment Pharmacol Ther. 2024. PMID: 39491332 No abstract available.
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: dominik n. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
Letter: Zinc and Selenium-Potential Biomarkers for Chronic Liver Disease? Authors' Reply.
Dominik N, Balcar L, Semmler G, Simbrunner B, Schwarz M, Hofer BS, Hartl L, Jachs M, Scheiner B, Pinter M, Trauner M, Mandorfer M, Pilger A, Reiberger T. Dominik N, et al. Aliment Pharmacol Ther. 2024 Nov;60(10):1497-1498. doi: 10.1111/apt.18324. Epub 2024 Oct 9. Aliment Pharmacol Ther. 2024. PMID: 39380454 No abstract available.
Insulin-like growth factor-1 in cirrhosis is linked to hepatic dysfunction and fibrogenesis and predicts liver-related mortality.
Hartl L, Schwarz M, Simbrunner B, Jachs M, Wolf P, Bauer DJM, Scheiner B, Balcar L, Semmler G, Hofer BS, Dominik N, Marculescu R, Trauner M, Mandorfer M, Reiberger T. Hartl L, et al. Among authors: dominik n. Aliment Pharmacol Ther. 2024 Sep 21. doi: 10.1111/apt.18289. Online ahead of print. Aliment Pharmacol Ther. 2024. PMID: 39305115
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Zarouchlioti C, Efthymiou S, Facchini S, Dominik N, Bhattacharyya N, Liu S, Costa MA, Szabo A, Sadan AN, Jun AS, Bugiardini E, Houlden H, Cortese A, Skalicka P, Dudakova L, Muthusamy K, Cheetham ME, Hardcastle AJ, Liskova P, Tuft SJ, Davidson AE. Zarouchlioti C, et al. Among authors: dominik n. EBioMedicine. 2024 Oct;108:105328. doi: 10.1016/j.ebiom.2024.105328. Epub 2024 Sep 14. EBioMedicine. 2024. PMID: 39278108 Free PMC article.
Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.
Henning F, Naidu K, Record CJ, Dominik N, Vandrovcova J, Lubbe F, Dercksen M; ICGNMD Consortium; Wilson LA, Van Der Westhuizen F, Reilly MM, Houlden H, Hanna MG, Carr J. Henning F, et al. Among authors: dominik n. Mov Disord Clin Pract. 2024 Oct;11(10):1298-1300. doi: 10.1002/mdc3.14178. Epub 2024 Aug 2. Mov Disord Clin Pract. 2024. PMID: 39092477 Free PMC article. No abstract available.
Rapid improvement of hepatic steatosis and liver stiffness after metabolic/bariatric surgery: a prospective study.
Nixdorf L, Hartl L, Ströhl S, Felsenreich DM, Mairinger M, Jedamzik J, Richwien P, Mozayani B, Semmler G, Balcar L, Schwarz M, Jachs M, Dominik N, Bichler C, Trauner M, Mandorfer M, Reiberger T, Langer FB, Bauer DJM, Prager G. Nixdorf L, et al. Among authors: dominik n. Sci Rep. 2024 Jul 30;14(1):17558. doi: 10.1038/s41598-024-67415-w. Sci Rep. 2024. PMID: 39080285 Free PMC article.
48 results