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Lopez-Ayala JM, Gimeno-Blanes J, Lopez-Cuenca D, Molina MS, Gimeno-Blanes JR. Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives. Front Cardiovasc Med. 2021 May 7;8:646391. doi: 10.3389/fcvm.2021.646391. eCollection 2021. PubMed PMID: 34026867; PubMed Central PMCID: PMC8137826.
AÑO: 2021; IF: 5.846
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34026867
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Akhtar MM, Lorenzini M, Pavlou M, Ochoa JP, O'Mahony C, Restrepo-Cordoba MA, Segura-Rodriguez D, Bermudez-Jimenez F, Molina P, Cuenca S, Ader F, Larranaga-Moreira JM, Sabater-Molina M, Garcia-Alvarez MI, Arantzamendi LG, Truszkowska G, Ortiz-Genga M, Ruiz IS, Nielsen SK, Rasmussen TB, Robles Mezcua A, Alvarez-Rubio J, Eiskjaer H, Gautel M, Garcia-Pinilla JM, Ripoll-Vera T, Mogensen J, Limeres Freire J, Rodriguez-Palomares JF, Pena-Pena ML, Rangel-Sousa D, Palomino-Doza J, Arana Achaga X, Bilinska Z, Zamarreno Golvano E, Climent V, Penalver MN, Barriales-Villa R, Charron P, Yotti R, Zorio E, Jimenez-Jaimez J, Garcia-Pavia P, Elliott PM; European Genetic Cardiomyopathies Initiative Investigators. Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure. JAMA Cardiol. 2021 Aug 1;6(8):891-901. doi: 10.1001/jamacardio.2021.1106. Erratum In: JAMA Cardiol. 2021 Aug 1;6(8):980. PubMed PMID: 33978673; PubMed Central PMCID: PMC8117057.
AÑO: 2021; IF: 30.154
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Suay-Corredera C, Pricolo MR, Herrero-Galan E, Velazquez-Carreras D, Sanchez-Ortiz D, Garcia-Giustiniani D, Delgado J, Galano-Frutos JJ, Garcia-Cebollada H, Vilches S, Dominguez F, Molina MS, Barriales-Villa R, Frisso G, Sancho J, Serrano L, Garcia-Pavia P, Monserrat L, Alegre-Cebollada J. Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy. J Biol Chem. 2021 Jul;297(1):100854. doi: 10.1016/j.jbc.2021.100854. Epub 2021 Jun 5. PubMed PMID: 34097875; PubMed Central PMCID: PMC8260873.
AÑO: 2021
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de la Morena-Barrio ME, Sabater M, de la Morena-Barrio B, Ruhaak RL, Minano A, Padilla J, Toderici M, Roldan V, Gimeno JR, Vicente V, Corral J. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant. Mol Genet Genomic Med. 2020 Aug;8(8):e1304. doi: 10.1002/mgg3.1304. Epub 2020 Jun 12. PubMed PMID: 32530140; PubMed Central PMCID: PMC7434597.
AÑO: 2020; IF: 2.183
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Hall CL, Gurha P, Sabater-Molina M, Asimaki A, Futema M, Lovering RC, Suarez MP, Aguilera B, Molina P, Zorio E, Coarfa C, Robertson MJ, Cheedipudi SM, Ng KE, Delaney P, Hernandez JP, Pastor F, Gimeno JR, McKenna WJ, Marian AJ, Syrris P. RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy. Int J Cardiol. 2020 Mar 1;302:124-130. doi: 10.1016/j.ijcard.2019.12.002. Epub 2019 Dec 6. PubMed PMID: 31843279; PubMed Central PMCID: PMC6940594.
AÑO: 2020; IF: 4.164
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