Acceder

MARIA SABATER MOLINA

Buscador

de la Morena-Barrio ME, Sabater M, de la Morena-Barrio B, Ruhaak RL, Miñano A, Padilla J, Toderici M, Roldán 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: 1.995
Hall CL, Gurha P, Sabater-Molina M, Asimaki A, Futema M, Lovering RC, Suárez MP, Aguilera B, Molina P, Zorio E, Coarfa C, Robertson MJ, Cheedipudi SM, Ng KE, Delaney P, Hernández 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: 3.471
Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum Genet. 2020 Nov;139(11):1443-1454. doi: 10.1007/s00439-020-02188-6. Epub 2020 Jun 8. PubMed PMID: 32514796; PubMed Central PMCID: PMC7519902.
AÑO: 2020; IF: 5.743
Hall CL, Akhtar MM, Sabater-Molina M, Futema M, Asimaki A, Protonotarios A, Dalageorgou C, Pittman AM, Suarez MP, Aguilera B, Molina P, Zorio E, Hernández JP, Pastor F, Gimeno JR, Syrris P, McKenna WJ. Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype. Int J Cardiol. 2020 May 15;307:101-108. doi: 10.1016/j.ijcard.2019.09.048. Epub 2019 Oct 8. PubMed PMID: 31627847.
AÑO: 2020; IF: 3.471
López Cuenca D, Orenes Moreno M, Olmo Conesa MC, Pastor Moreno A, Santos Mateo JJ, Muñoz Esparza C, Navarro Peñalver M, Castro García FJ, Sabater Molina M, Gimeno Blanes JR. Reasons for refusing diagnostic tests and therapeutic recommendations and associated complications in inherited heart diseases. The RELUCTANT study. Rev Esp Cardiol (Engl Ed). 2020 Jul 21. pii: S1885-5857(20)30279-6. doi: 10.1016/j.rec.2020.06.014. [Epub ahead of print] English, Spanish. PubMed PMID: 32709565.
AÑO: 2020; IF: 4.642

Instituto de Investigación Sanitaria Acreditado

ISCII