Publicaciones
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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 citas: 41
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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 citas: 21
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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 citas: 11
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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 citas: 11
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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 citas: 13
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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 citas: 13
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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 citas: 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 citas: 3
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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. Nº de citas: 8
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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.