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Page 1
Predicting and Recognizing Drug-Induced Type I Brugada Pattern Using ECG-Based Deep Learning.
Călburean PA, Pannone L, Monaco C, Rocca DD, Sorgente A, Almorad A, Bala G, Aglietti F, Ramak R, Overeinder I, Ströker E, Pappaert G, Măru'teri M, Harpa M, La Meir M, Brugada P, Sieira J, Sarkozy A, Chierchia GB, de Asmundis C. Călburean PA, et al. Among authors: sarkozy a. J Am Heart Assoc. 2024 May 10:e033148. doi: 10.1161/JAHA.123.033148. Online ahead of print. J Am Heart Assoc. 2024. PMID: 38726893 Free article.
SCN5A gene variants and arrhythmic risk in Brugada syndrome: An updated systematic review and meta-analysis.
Doundoulakis I, Pannone L, Chiotis S, Della Rocca DG, Sorgente A, Tsioufis P, Del Monte A, Vetta G, Piperis C, Overeinder I, Bala G, Almorad A, Ströker E, Sieira J, La Meir M, Brugada P, Tsiachris D, Sarkozy A, Chierchia GB, de Asmundis C. Doundoulakis I, et al. Among authors: sarkozy a. Heart Rhythm. 2024 Apr 16:S1547-5271(24)02374-9. doi: 10.1016/j.hrthm.2024.04.047. Online ahead of print. Heart Rhythm. 2024. PMID: 38614189
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Doherty CM, Howard P, O'Donnell LF, Zuccarino R, Wastling S, Milev E, Banks T, Shah S, Zafeiropoulos N, Stephens KJ, Sarkozy A, Grider T, Feely SME, Manzur A, Shy RR, Skorupinska M, Pipis M, Nicolaisen E, McDowell A, Dilek N, Rossor AM, Laura M, Clark C, Muntoni F, Thedens D, Thornton J, Morrow JM, Shy ME, Reilly MM. Doherty CM, et al. Among authors: sarkozy a. Ann Neurol. 2024 Apr 13. doi: 10.1002/ana.26934. Online ahead of print. Ann Neurol. 2024. PMID: 38613459
Oral anticoagulation in device-detected atrial fibrillation: effects of age, sex, cardiovascular comorbidities, and kidney function on outcomes in the NOAH-AFNET 6 trial.
Lip GYH, Nikorowitsch J, Sehner S, Becher N, Bertaglia E, Blomstrom-Lundqvist C, Brandes A, Beuger V, Calvert M, Camm AJ, Chlouverakis G, Dan GA, Dichtl W, Diener HC, Fierenz A, Goette A, de Groot JR, Hermans A, Lubinski A, Marijon E, Merkely B, Mont L, Ozga AK, Rajappan K, Sarkozy A, Scherr D, Schnabel RB, Schotten U, Simantirakis E, Toennis T, Vardas P, Wichterle D, Zapf A, Kirchhof P. Lip GYH, et al. Among authors: sarkozy a. Eur Heart J. 2024 Apr 9:ehae225. doi: 10.1093/eurheartj/ehae225. Online ahead of print. Eur Heart J. 2024. PMID: 38591192 No abstract available.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: sarkozy a. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Pericarditis prophylactic therapy after sinus node-sparing hybrid ablation for inappropriate sinus tachycardia/postural orthostatic sinus tachycardia.
de Asmundis C, Marcon L, Pannone L, Della Rocca DG, Lakkireddy D, Beaver TM, Brodt CR, Monaco C, Sorgente A, Audiat C, Vetta G, Ramak R, Overeinder I, Kronenberger R, Bala G, Almorad A, Ströker E, Sieira J, Sarkozy A, Brugada P, Chierchia GB, La Meir M. de Asmundis C, et al. Among authors: sarkozy a. Heart Rhythm O2. 2024 Jan 10;5(2):137-144. doi: 10.1016/j.hroo.2024.01.001. eCollection 2024 Feb. Heart Rhythm O2. 2024. PMID: 38545325 Free PMC article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: sarkozy a. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
Practical approach for atrial cardiomyopathy characterization in patients with atrial fibrillation.
La Rosa G, Morillo CA, Quintanilla JG, Doltra A, Mont L, Rodríguez-Mañero M, Sarkozy A, Merino JL, Vivas D, Datino T, Calvo D, Pérez-Castellano N, Pérez-Villacastín J, Fauchier L, Lip G, Hatem SN, Jalife J, Sanchis L, Marín F, Filgueiras-Rama D. La Rosa G, et al. Among authors: sarkozy a. Rev Esp Cardiol (Engl Ed). 2024 Feb 29:S1885-5857(24)00072-0. doi: 10.1016/j.rec.2024.02.009. Online ahead of print. Rev Esp Cardiol (Engl Ed). 2024. PMID: 38428580 Free article. English, Spanish.
Genetic Testing in Brugada Syndrome: A 30-Year Experience.
Pannone L, Bisignani A, Osei R, Gauthey A, Sorgente A, Monaco C, Della Rocca DG, Del Monte A, Strazdas A, Mojica J, Al Housari M, Miraglia V, Mouram S, Vetta G, Paparella G, Ramak R, Overeinder I, Bala G, Almorad A, Ströker E, Pappaert G, Sieira J, de Ravel T, La Meir M, Sarkozy A, Brugada P, Chierchia GB, Van Dooren S, de Asmundis C. Pannone L, et al. Among authors: sarkozy a. Circ Arrhythm Electrophysiol. 2024 Apr;17(4):e012374. doi: 10.1161/CIRCEP.123.012374. Epub 2024 Mar 1. Circ Arrhythm Electrophysiol. 2024. PMID: 38426305
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Smeets H, Verbrugge B, Bulbena X, Hristova L, Vogt J, van Beckhoven I; all participants; Patient organizations/patient representatives: LAMA2-Europe, Voor Sara-the Netherlands, ImpulsaT-Spain, LAMA2-France, CMD-Turkey, LAMA2-Bulgaria, Cure-CMD. Smeets H, et al. Neuromuscul Disord. 2024 Mar;36:16-22. doi: 10.1016/j.nmd.2024.01.001. Epub 2024 Jan 9. Neuromuscul Disord. 2024. PMID: 38306718
341 results