Publicacions
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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 cites: 11
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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 cites: 8
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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 cites: 9
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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 cites: 10
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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 cites: 3
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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 cites: 12
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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 cites: 16
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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 cites: 6
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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 cites: 44
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Alamar AM, Candela-Cantó SA, Flor-Goikoetxea A, Salvador-Hernandez H, Martinez-Monseny T, Muchart-Lopez J and Hinojosa J.
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature
CHILDS NERVOUS SYSTEM . 37(8): 2441-2449. Nº de cites: 1