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Publicaciones

  • Ramon-Krauel M, Amat-Bou M, Serrano M, Martinez-Monseny T and Lerin C.

    Targeting the Gut Microbiome in Prader-Willi Syndrome.

    Journal of Clinical Medicine . 10(22): 5328. Nº de citas: 1

    [doi:10.3390/jcm10225328]

  • Tamura N, Sakai S, Martorell-Sampol L, Colomé-Roura R, Mizuike A, Goto A, Ortigoza-Escobar JD and Hanada K.

    Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution

    JOURNAL OF BIOLOGICAL CHEMISTRY . 297(5): 101338-101338. Nº de citas: 7

    [doi:10.1016/j.jbc.2021.101338]

  • Rossetti, M, Stella, L, Morla-Folch, J, Bobone, S, Boloix, A, Baranda, L, Moscone, D, Roldan-Molina M, Veciana, J, Segura, MF, Kober, M, Ventosa, N and Porchetta, A.

    Engineering DNA-Grafted Quatsomes as Stable Nucleic Acid-Responsive Fluorescent Nanovesicles

    ADVANCED FUNCTIONAL MATERIALS . 31(46): . Nº de citas: 8

    [doi:10.1002/adfm.202103511]

  • Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.

    The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

    GENES . 12(10): 1590. Nº de citas: 8

    [doi:10.3390/genes12101590]

  • Tenorio-Castaño J, Arias P, Fernández-Jaén A, Lay-Son G, Bueno-Lozano G, Bayat A, Faivre L, Gallego N, Ramos S, Butler KM, Morel C, Hadjiyannakis S, Lespinasse J, Tran-Mau-Them F, Santos-Simarro F, Pinson L, Martinez-Monseny T, O'Callaghan-Gordo M, Álvarez S, Stolerman ES, Washington C, Ramos FJ, Consortium TS and Lapunzina P.

    Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

    CLINICAL GENETICS . 100(4): 405-411. Nº de citas: 2

    [doi:10.1111/cge.14020]

  • Picó S, Parras A, Santos-Galindo M, Pose-Utrilla J, Castro M, Fraga E, Hernández IH, Elorza A, Anta H, Wang N, Marti-Sanchez L, Belloc E, Garcia-Esparcia P, Garrido JJ, Ferrer I, Macías-García D, Mir P, Artuch-Iriberri R, Pérez B, Hernández F, Navarro P, López-Sendón JL, Iglesias T, Yang XW, Méndez R and Lucas JJ.

    CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease

    SCIENCE TRANSLATIONAL MEDICINE . 13(613): . Nº de citas: 9

    [doi:10.1126/scitranslmed.abe7104]

  • Pascual-Alonso A, Martinez-Monseny T, Xiol-Viñas C and Armstrong-Moron J.

    MECP2 Related Disorders in Males

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(17): 9610. Nº de citas: 10

    [doi:10.3390/ijms22179610]

  • Paredes-Fuentes AJ, César-Díaz S, Montero-Sanchez R, Latre C, Genovés-Escarré J, Martorell-Sampol L, Cuadras-Palleja D, Colom H, Pineda M, O'Callaghan-Gordo M, Sarquella-Brugada G, Darling A and Artuch-Iriberri R.

    Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

    BIOMEDICINE & PHARMACOTHERAPY . 143: 112143-112143. Nº de citas: 5

    [doi:10.1016/j.biopha.2021.112143]

  • Yahya G, Hashem Mohamed N, Pijuan-Marquilles J, Seleem NM, Mosbah R, Hess S, Abdelmoaty AA, Almeer R, Abdel-Daim MM, Shulaywih Alshaman H, Juraiby I, Metwally K and Storchova Z.

    Profiling the physiological pitfalls of anti-hepatitis C direct-acting agents in budding yeast.

    Microbial Biotechnology . 14(5): 2199-2213. Nº de citas: 6

    [doi:10.1111/1751-7915.13904]

  • Casas G, Limeres J, Oristrell G, Gutierrez-Garcia L, Andreini D, Borregán M, Larrañaga-Moreira JM, Lopez-Sainz A, Codina-Solà M, Teixido-Tura G, Sorolla-Romero JA, Fernández-Álvarez P, González-Carrillo J, Guala A, La Mura L, Soler-Fernández R, Sao Avilés A, Santos-Mateo JJ, Marsal JR, Ribera A, de la Pompa JL, Villacorta E, Jiménez-Jáimez J, Ripoll-Vera T, Bayes-Genis A, Garcia-Pinilla JM, Palomino-Doza J, Tiron C, Pontone G, Bogaert J, Aquaro GD, Gimeno-Blanes JR, Zorio E, Garcia-Pavia P, Barriales-Villa R, Evangelista A, Masci PG, Ferreira-González I and Rodríguez-Palomares JF.

    Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.

    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY . 78(7): 643-662. Nº de citas: 28

    [doi:10.1016/j.jacc.2021.06.016]