Publicacions
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Rey-Barroso L, Roldan-Molina M, Burgos-Fernández FJ, Gassiot S, Ruiz-Llobet A, Isola I and Vilaseca MA.
Spectroscopic Evaluation of Red Blood Cells of Thalassemia Patients with Confocal Microscopy: A Pilot Study
SENSORS . 20(14): . Nº de cites: 6
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Moncunill G, Scholzen A, Mpina M, Nhabomba A, Hounkpatin AB, Osaba L, Valls R, Campo JJ, Sanz H, Jairoce C, Williams NA, Pasini EM, Arteta D, Maynou-Fernández J, Palacios L, Duran-Frigola M, Aponte JJ, Kocken CHM, Agnandji ST, Mas JM, Mordmüller B, Daubenberger C, Sauerwein R and Dobaño C.
Antigen-stimulated PBMC transcriptional protective signatures for malaria immunization.
SCIENCE TRANSLATIONAL MEDICINE . 12(543): . Nº de cites: 29
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Iwaki H, Blauwendraat C, Makarious MB, Bandrés-Ciga S, Leonard HL, Gibbs JR, Hernandez DG, Scholz SW, Faghri F, Nalls MA, Singleton AB and International Parkinson's Disease Genomics Consortium (IPDGC).
Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score
MOVEMENT DISORDERS . 35(5): 774-780. Nº de cites: 48
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Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z and International Parkinson's Disease Genomic Consortium (IPDGC).
Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease
JOURNAL OF MEDICAL GENETICS . 57(5): 331-338. Nº de cites: 39
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Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization
Epilepsia . 61(5): 971-983. Nº de cites: 17
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Koeneke A, Ponce G, Troya-Balseca J, Palomo T and Hoenicka J.
Ankyrin Repeat and Kinase Domain Containing 1 Gene, and Addiction Vulnerability
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(7): . Nº de cites: 17
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Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
CLINICAL GENETICS . 97(4): 610-620. Nº de cites: 18
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Gutiérrez-Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell-Sampol L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G and Gutiérrez-Rivas E.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Neurologia . 35(3): 185-206. Nº de cites: 26
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Muñoz-Lasso DC, Mollá B, Calap-Quintana P, García-Giménez JL, Pallardo FV, Palau F and Gonzalez-Cabo P.
Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.
SCIENTIFIC REPORTS . 10(1): 5207-5207. Nº de cites: 12
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Ruiz-Llobet A, Isola I, Gassiot S, Català-Temprano A, Díaz-Ricart M, Martinez-Monseny T, Serrano M and Berrueco R.
Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood
THROMBOSIS AND HAEMOSTASIS . 120(3): 457-465. Nº de cites: 5