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Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.
Marais A, Bertoli-Avella AM, Beetz C, Altunoglu U, Alhashem A, Mohamed S, Alghamdi A, Willems P, Tsoutsou E, Fryssira H, Pons R, Almarzooq R, Karatoprak EY, Ayaz A, Ünverengil G, Calvo M, Yüksel Z, Bauer P. Marais A, et al. Among authors: pons r. Eur J Med Genet. 2022 Aug;65(8):104537. doi: 10.1016/j.ejmg.2022.104537. Epub 2022 Jun 9. Eur J Med Genet. 2022. PMID: 35690317
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations.
Valari M, Theodoraki M, Loukas I, Gkantseva-Patsoura S, Karavana G, Falaina V, Lykopoulou L, Pons R, Athanasiou I, Wertheim-Tysarowska K, Kanaka-Gantenbein C, Kiritsi D. Valari M, et al. Among authors: pons r. Acta Derm Venereol. 2019 Dec 1;99(13):1309-1310. doi: 10.2340/00015555-3317. Acta Derm Venereol. 2019. PMID: 31513275 Free article. Review. No abstract available.
A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.
Kekou K, Sofocleous C, Papadimas G, Petichakis D, Svingou M, Pons RM, Vorgia P, Gika A, Kitsiou-Tzeli S, Kanavakis E. Kekou K, et al. Mol Cell Probes. 2016 Aug;30(4):254-260. doi: 10.1016/j.mcp.2016.07.001. Epub 2016 Jul 12. Mol Cell Probes. 2016. PMID: 27417533
The Emerging Role of Combined Brain/Heart Magnetic Resonance Imaging for the Evaluation of Brain/Heart Interaction in Heart Failure.
Markousis-Mavrogenis G, Noutsias M, Rigopoulos AG, Giannakopoulou A, Gatzonis S, Pons RM, Papavasiliou A, Vartela V, Bonou M, Kolovou G, Aggeli C, Christidi A, Bacopoulou F, Tousoulis D, Mavrogeni S. Markousis-Mavrogenis G, et al. J Clin Med. 2022 Jul 11;11(14):4009. doi: 10.3390/jcm11144009. J Clin Med. 2022. PMID: 35887772 Free PMC article. Review.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: pons r. J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18. J Inherit Metab Dis. 2024. PMID: 38499966
The implications of the COVID-19 pandemic on eating disorder features and comorbid psychopathology among adolescents with anorexia nervosa and matched controls: a comparative cohort design study.
Bracké K, Steegers C, van der Harst T, Pons R, Legerstee J, Dierckx B, de Nijs P, Bax-van Berkel M, van Elburg A, Hekkelaan M, Hokke J, de Jong-Zuidema H, Korthals Altes L, Lengton-van der Spil F, Luijkx J, Schuurmans F, Smeets C, van Wijk L, Woltering C, Vernooij M, Hillegers M, White T, Dieleman G. Bracké K, et al. Among authors: pons r. Eat Weight Disord. 2024 Feb 12;29(1):13. doi: 10.1007/s40519-024-01640-0. Eat Weight Disord. 2024. PMID: 38347293 Free PMC article.
279 results