Publications
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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. Number of citations: 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. Number of citations: 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. Number of citations: 4
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Guelfi S, D'Sa K, Botía JA, Vandrovcova J, Reynolds RH, Zhang D, Trabzuni D, Collado-Torres L, Thomason A, Quijada Leyton P, Gagliano Taliun SA, Nalls MA, Small KS, Smith C, Ramasamy A, Hardy J, Weale ME, Ryten M, International Parkinson’s Disease Genomics Consortium (IPDGC) and UK Brain Expression Consortium (UKBEC).
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
NATURE COMMUNICATIONS . 11(1): 1041-1041. Number of citations: 14
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Casanova X, Roldan-Molina M and Subirà ME.
Analysis of cut marks on ancient human remains using confocal profilometer
Journal of Historical Archaeology & Antropological Sciences . 5(1): 8-26.
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Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Number of citations: 19
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Unzueta U, Roldan-Molina M, Pesarrodona M, Benítez R, Sánchez-Chardi A, Conchillo-Solé O, Mangues R, Villaverde A and Vázquez E.
Self-assembling as regular nanoparticles dramatically minimizes photobleaching of tumour-targeted GFP.
ACTA BIOMATERIALIA . 103: 272-280. Number of citations: 11
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De Oyarzabal-Sanz AL, Xiol-Viñas C, Castells AA, Grau-Páez C, O'Callaghan-Gordo M, Fernandez-Isern G, Alcántara S, Pineda M, Armstrong-Moron J, Altafaj X and Garcia-Cazorla A.
Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(2): 518. Number of citations: 10
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Martinez-Monseny T, Casas-Alba D, Arjona-Fernandez C, Bolasell M, Casano-Sancho P, Muchart-Lopez J, Ramos F, Martorell-Sampol L, Palau F, García-Alix A and Serrano M.
Okur-Chung neurodevelopmental syndrome in a patient from Spain
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 20-24. Number of citations: 16
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Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell-Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B and Kohl S.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
HUMAN MUTATION . 41(1): 255-264. Number of citations: 26