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Page 1
Post COVID-19 irritable bowel syndrome.
Marasco G, Cremon C, Barbaro MR, Cacciari G, Falangone F, Kagramanova A, Bordin D, Drug V, Miftode E, Fusaroli P, Mohamed SY, Ricci C, Bellini M, Rahman MM, Melcarne L, Santos J, Lobo B, Bor S, Yapali S, Akyol D, Sapmaz FP, Urun YY, Eskazan T, Celebi A, Kacmaz H, Ebik B, Binicier HC, Bugdayci MS, Yağcı MB, Pullukcu H, Kaya BY, Tureyen A, Hatemi İ, Koc ES, Sirin G, Calıskan AR, Bengi G, Alıs EE, Lukic S, Trajkovska M, Hod K, Dumitrascu D, Pietrangelo A, Corradini E, Simren M, Sjölund J, Tornkvist N, Ghoshal UC, Kolokolnikova O, Colecchia A, Serra J, Maconi G, De Giorgio R, Danese S, Portincasa P, Di Sabatino A, Maggio M, Philippou E, Lee YY, Salvi D, Venturi A, Borghi C, Zoli M, Gionchetti P, Viale P, Stanghellini V, Barbara G; GI-COVID19 study group. Marasco G, et al. Gut. 2022 Dec 9:gutjnl-2022-328483. doi: 10.1136/gutjnl-2022-328483. Online ahead of print. Gut. 2022. PMID: 36591612
Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation.
Hoffmann S, Paone C, Sumer SA, Diebold S, Weiss B, Roeth R, Clauss S, Klier I, Kääb S, Schulz A, Wild PS, Ghrib A, Zeller T, Schnabel RB, Just S, Rappold GA. Hoffmann S, et al. Among authors: paone c. Front Genet. 2019 Jul 11;10:648. doi: 10.3389/fgene.2019.00648. eCollection 2019. Front Genet. 2019. PMID: 31354791 Free PMC article.
Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo.
Kustermann M, Manta L, Paone C, Kustermann J, Lausser L, Wiesner C, Eichinger L, Clemen CS, Schröder R, Kestler HA, Sandri M, Rottbauer W, Just S. Kustermann M, et al. Among authors: paone c. Autophagy. 2018;14(11):1911-1927. doi: 10.1080/15548627.2018.1491491. Epub 2018 Aug 16. Autophagy. 2018. PMID: 30010465 Free PMC article.
Genetics of Cardiovascular Disease: Fishing for Causality.
Paone C, Diofano F, Park DD, Rottbauer W, Just S. Paone C, et al. Front Cardiovasc Med. 2018 Jun 1;5:60. doi: 10.3389/fcvm.2018.00060. eCollection 2018. Front Cardiovasc Med. 2018. PMID: 29911105 Free PMC article. Review.
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH. Brockmann SJ, et al. Among authors: paone c. Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436. Hum Mol Genet. 2018. PMID: 29315381
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