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Page 1
Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe.
Horber V, Andersen GL, Arnaud C, De La Cruz J, Dakovic I, Greitane A, Hensey O, Himmelmann K, Hollody K, Horridge K, Künzle CT, Marcelli M, Ortibus E, Papavasiliou A, Perra O, Platt MJ, Rackauskaite G, Sigurdardottir S, Troha Gergeli A, Virella D, Krägeloh-Mann I, Sellier E. Horber V, et al. Among authors: papavasiliou a. Neurology. 2023 Dec 12;101(24):e2509-e2521. doi: 10.1212/WNL.0000000000207851. Epub 2023 Oct 19. Neurology. 2023. PMID: 37857495
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: papavasiliou a. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
Heart Failure Post-SARS-CoV-2 Infection in Children with Duchenne Muscular Dystrophy: The Additive Value of Cardiovascular Magnetic Resonance.
Markousis-Mavrogenis G, Belegrinos A, Giannakopoulou A, Karanasios E, Vartela V, Patsilinakou E, Samantis P, Pons RM, Papavasiliou A, Mavrogeni SI. Markousis-Mavrogenis G, et al. Among authors: papavasiliou a. Children (Basel). 2023 May 17;10(5):894. doi: 10.3390/children10050894. Children (Basel). 2023. PMID: 37238442 Free PMC article.
Cardiovascular Magnetic Resonance Demonstrates Myocardial Inflammation of Differing Etiologies and Acuities in Patients with Genetic and Inflammatory Myopathies.
Markousis-Mavrogenis G, Belegrinos A, Giannakopoulou A, Papavasiliou A, Koulouri V, Marketos N, Patsilinakou E, Lazarioti F, Bacopoulou F, Mavragani CP, Chrousos GP, Mavrogeni SI. Markousis-Mavrogenis G, et al. Among authors: papavasiliou a. J Clin Med. 2023 Feb 16;12(4):1575. doi: 10.3390/jcm12041575. J Clin Med. 2023. PMID: 36836108 Free PMC article.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D, Tilemis FN, Marinakis NM, Svingou M, Mitrakos A, Kosma K, Tsoutsou I, Makrythanasis P, Theodorou V, Katsalouli M, Vorgia P, Niotakis G, Vartzelis G, Dinopoulos A, Evangeliou A, Mouskou S, Korona A, Mastroyianni S, Papavasiliou A, Tzetis M, Pons R, Traeger-Synodinos J, Sofocleous C. Veltra D, et al. Among authors: papavasiliou a. Expert Rev Mol Diagn. 2023 Jan;23(1):85-103. doi: 10.1080/14737159.2023.2173578. Epub 2023 Feb 14. Expert Rev Mol Diagn. 2023. PMID: 36714946
Clinical and Radiographic Criteria Define "Acceptable" Surgical Correction of Hip Femoroacetabular Impingement Syndrome as Well as Postoperative Complications: An International Modified Delphi Study.
Defining Parameters for Surgical Correction and Outcomes for Femoroacetabular Impingement Through Consensus (DEFINE) Investigators. Defining Parameters for Surgical Correction and Outcomes for Femoroacetabular Impingement Through Consensus (DEFINE) Investigators. Arthroscopy. 2023 May;39(5):1198-1210. doi: 10.1016/j.arthro.2022.11.023. Epub 2022 Dec 8. Arthroscopy. 2023. PMID: 36621448
Cardiovascular Magnetic Resonance Imaging Patterns in Rare Cardiovascular Diseases.
Markousis-Mavrogenis G, Giannakopoulou A, Belegrinos A, Pons MR, Bonou M, Vartela V, Papavasiliou A, Christidi A, Kourtidou S, Kolovou G, Bacopoulou F, Chrousos GP, Mavrogeni SI. Markousis-Mavrogenis G, et al. Among authors: papavasiliou a. J Clin Med. 2022 Oct 29;11(21):6403. doi: 10.3390/jcm11216403. J Clin Med. 2022. PMID: 36362632 Free PMC article. Review.
114 results