Publicacions
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Palau F.
Fenotipos, genes y moléculas: la necesidad de investigar en enfermedades raras
SEBBM. Sociedad Española de Bioquímica y Biología Molecular . 195: 12-16.
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Olivares M, Walker AW, Capilla A, Benítez-Páez A, Palau F, Parkhill J, Castillejo G and Sanz Y.
Gut microbiota trajectory in early life may predict development of celiac disease.
Microbiome . 6(1): 36-36. Nº de cites: 94
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Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 19(2): 619. Nº de cites: 39
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de Pinho Favaro MT, Sanchez-Garcia L, Sanchez-Chardi A, Roldan-Molina M, Unzueta U, Serna N, Cano-Garrido O, Azzoni AR, Ferrer-Miralles N, Villaverde A and Vazquez E.
Protein nanoparticles are nontoxic, tuneable cell stressors.
NANOMEDICINE . 13(3): 255-268. Nº de cites: 10
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Soto D, Olivella M, Grau C, Armstrong-Moron J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.
RETRACTED: Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement (Retracted article. See vol. 83, pg. 715, 2018)
BIOLOGICAL PSYCHIATRY . 83(2): 160-172. Nº de cites: 5
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Hector, RD, Kalscheuer, VM, Hennig, F, Leonard, H, Downs, J, Clarke, A, Benke, TA, Armstrong-Moron J, Pineda M, Bailey, MES and Cobb, SR.
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
NEUROLOGY-GENETICS . 3(6): 200. Nº de cites: 55
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Unzueta U, Serna N, Sánchez-García L, Roldan-Molina M, Sánchez-Chardi A, Mangues R, Villaverde AV and Vázquez E.
Engineering multifunctional protein nanoparticles by in vitro disassembling and reassembling of heterologous building blocks
Nanotechnology . 28(50): 505102-505102. Nº de cites: 12
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Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell-Sampol L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza-Escobar JD, Marti-Sanchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras-Palleja D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T and Pérez-Dueñas B.
Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study
MOVEMENT DISORDERS . 32(11): 1620-1630. Nº de cites: 18
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Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
SCIENTIFIC REPORTS . 7: 12288-12288. Nº de cites: 19
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Serrano NL, De Diego V, Cuadras-Palleja D, Martinez-Monseny T, Velázquez-Fragua R, López L, Felipe-Villalobos A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M and CDG Spanish Consortium.
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
ORPHANET JOURNAL OF RARE DISEASES . 12: 155-155. Nº de cites: 19