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Lluisa Vilageliu - Publications

Affiliations: 
Universitat de Barcelona, Barcelona, Cataluña, Spain 
Area:
lysosomal storage disorders, cellular and animal models, therapeutic approaches
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Year Citation  Score
2022 Andrade I, Ribeiro R, Carneiro ZA, Giugliani R, Pereira C, Cozma C, Grinberg D, Vilageliu L, Lourenco CM. Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report. Journal of Medical Case Reports. 16: 46. PMID 35078524 DOI: 10.1186/s13256-021-03240-3  0.641
2021 Griñán-Ferré C, Companys-Alemany J, Jarné-Ferrer J, Codony S, González-Castillo C, Ortuño-Sahagún D, Vilageliu L, Grinberg D, Vázquez S, Pallàs M. Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease. International Journal of Molecular Sciences. 22. PMID 33810307 DOI: 10.3390/ijms22073409  0.641
2021 Benetó N, Grinberg D, Vilageliu L, Canals I. Genome Editing Using Cas9-gRNA Ribonucleoprotein in Human Pluripotent Stem Cells for Disease Modeling. Methods in Molecular Biology (Clifton, N.J.). PMID 33755903 DOI: 10.1007/7651_2021_374  0.797
2020 Benetó N, Vilageliu L, Grinberg D, Canals I. Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches. International Journal of Molecular Sciences. 21. PMID 33105639 DOI: 10.3390/ijms21217819  0.806
2020 Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg D, Mavridou I, Michelakakis H. Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece. Molecular Genetics and Metabolism Reports. 24: 100614. PMID 32547927 DOI: 10.1016/J.Ymgmr.2020.100614  0.861
2020 Benetó N, Cozar M, Castilla-Vallmanya L, Zetterdahl OG, Sacultanu M, Segur-Bailach E, García-Morant M, Ribes A, Ahlenius H, Grinberg D, Vilageliu L, Canals I. Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development. Journal of Clinical Medicine. 9. PMID 32121121 DOI: 10.3390/Jcm9030644  0.79
2020 Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C, Drousiotou A. A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease. Molecular Genetics & Genomic Medicine. e1090. PMID 31943857 DOI: 10.1002/Mgg3.1090  0.559
2019 Benetó N, Cozar M, Gort L, Pacheco L, Vilageliu L, Grinberg D, Canals I. Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome. Stem Cell Research. 42: 101668. PMID 31825816 DOI: 10.1016/J.Scr.2019.101668  0.8
2019 Benetó N, Cozar M, García-Morant M, Creus-Bachiller E, Vilageliu L, Grinberg D, Canals I. Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome. Stem Cell Research. 41: 101616. PMID 31731183 DOI: 10.1016/J.Scr.2019.101616  0.811
2019 Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lazaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, et al. Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules. Clinical Genetics. PMID 31573083 DOI: 10.1111/Cge.13649  0.714
2019 Serra-Vinardell J, Roca-Ayats N, De-Ugarte L, Vilageliu L, Balcells S, Grinberg D. Bone development and remodeling in metabolic disorders. Journal of Inherited Metabolic Disease. PMID 30942483 DOI: 10.1002/Jimd.12097  0.756
2018 Urreizti R, Damanti S, Esteve C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Scientific Reports. 8: 694. PMID 29330474 DOI: 10.1038/S41598-017-19109-9  0.843
2018 Serra-Vinardell J, Davidson B, Aflaki E, Stubblefield BK, Lopez G, Grinberg D, Vilageliu L, Sidransky E. Patient-derived Gaucher induced pluripotent stem cells as a tool to understand common complex disorders Molecular Genetics and Metabolism. 123: S128. DOI: 10.1016/J.Ymgme.2017.12.350  0.773
2017 Stauffert F, Serra-Vinardell J, Gómez-Grau M, Michelakakis H, Mavridou I, Grinberg D, Vilageliu L, Casas J, Bodlenner A, Delgado A, Compain P. Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity. Organic & Biomolecular Chemistry. PMID 28905961 DOI: 10.1039/C7Ob90148H  0.741
2017 Stauffert F, Serra-Vinardell J, Gómez-Grau M, Michelakakis H, Mavridou I, Grinberg D, Vilageliu L, Casas J, Bodlenner A, Delgado A, Compain P. Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity. Organic & Biomolecular Chemistry. PMID 28401966 DOI: 10.1039/c7ob00443e  0.761
2017 Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Scientific Reports. 7: 44138. PMID 28281571 DOI: 10.1038/Srep44138  0.842
2017 Gómez-Grau M, Albaigès J, Casas J, Auladell C, Dierssen M, Vilageliu L, Grinberg D. New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. Scientific Reports. 7: 41931. PMID 28167839 DOI: 10.1038/Srep41931  0.845
2017 Mavridou I, Dimitriou E, Vanier MT, Vilageliu L, Grinberg D, Latour P, Xaidara A, Lycopoulou L, Bostantjopoulou S, Zafeiriou D, Michelakakis H. The Spectrum of Niemann-Pick Type C Disease in Greece. Jimd Reports. 36: 41-48. PMID 28105569 DOI: 10.1007/8904_2016_41  0.718
2017 Vilageliu L, Grinberg D. Involvement of Gaucher Disease Mutations in Parkinson Disease. Current Protein & Peptide Science. 18: 758-764. PMID 26965692 DOI: 10.2174/1389203717666160311115956  0.766
2017 Roberts R, Rodríguez-Pascau L, García AM, Cubero E, Pizcueta P, Delgado A, Revés M, Pérez N, Ruano A, Aymamí J, Higaki K, Grinberg D, Vilageliu L, Martinell M, Barril X. Allosteric, non-inhibitory pharmacological chaperones for the treatment of lysosomal diseases Molecular Genetics and Metabolism. 120: S115-S116. DOI: 10.1016/J.Ymgme.2016.11.297  0.651
2016 Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. American Journal of Medical Genetics. Part A. 170: 24-31. PMID 26768331 DOI: 10.1002/Ajmg.A.37418  0.826
2016 Dimitriou E, Cozar M, Mavridou I, Grinberg D, Vilageliu L, Michelakakis H. The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. Jimd Reports. 25: 57-64. PMID 26108647 DOI: 10.1007/8904_2015_457  0.768
2015 Canals I, Soriano J, Orlandi JG, Torrent R, Richaud-Patin Y, Jiménez-Delgado S, Merlin S, Follenzi A, Consiglio A, Vilageliu L, Grinberg D, Raya A. Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. Stem Cell Reports. 5: 546-57. PMID 26411903 DOI: 10.1016/J.Stemcr.2015.08.016  0.804
2015 Canals I, Benetó N, Cozar M, Vilageliu L, Grinberg D. EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. Scientific Reports. 5: 13654. PMID 26347037 DOI: 10.1038/Srep13654  0.792
2015 Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg D, Vilageliu L. Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases. Plos One. 10: e0135873. PMID 26287674 DOI: 10.1371/Journal.Pone.0135873  0.824
2014 Matos L, Canals I, Dridi L, Choi Y, Prata MJ, Jordan P, Desviat LR, Pérez B, Pshezhetsky AV, Grinberg D, Alves S, Vilageliu L. Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. Orphanet Journal of Rare Diseases. 9: 180. PMID 25491247 DOI: 10.1186/S13023-014-0180-Y  0.844
2014 Serra-Vinardell J, Díaz L, Guitiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J. Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease. The International Journal of Biochemistry & Cell Biology. 54: 245-54. PMID 25084554 DOI: 10.1016/J.Biocel.2014.07.017  0.845
2014 Serra-Vinardell J, Díaz L, Casas J, Grinberg D, Vilageliu L, Michelakakis H, Mavridou I, Aerts JM, Decroocq C, Compain P, Delgado A. Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of α-1-C-substituted imino-D-xylitols (DIXs) by click chemistry. Chemmedchem. 9: 1744-54. PMID 24976039 DOI: 10.1002/Cmdc.201402023  0.799
2014 Reverter M, Rentero C, Garcia-Melero A, Hoque M, Vilà de Muga S, Alvarez-Guaita A, Conway JR, Wood P, Cairns R, Lykopoulou L, Grinberg D, Vilageliu L, Bosch M, Heeren J, Blasi J, et al. Cholesterol regulates Syntaxin 6 trafficking at trans-Golgi network endosomal boundaries. Cell Reports. 7: 883-97. PMID 24746815 DOI: 10.1016/J.Celrep.2014.03.043  0.639
2014 Pérez B, Vilageliu L, Grinberg D, Desviat LR. Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. Nucleic Acid Therapeutics. 24: 48-56. PMID 24506780 DOI: 10.1089/Nat.2013.0453  0.697
2014 Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier MT, Dimitriou E, Grinberg D, Vilageliu L, Michelakakis H. Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island. Clinical Genetics. 85: 543-7. PMID 23701245 DOI: 10.1111/Cge.12200  0.773
2013 Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. Orphanet Journal of Rare Diseases. 8: 51. PMID 23557332 DOI: 10.1186/1750-1172-8-51  0.675
2012 Rodríguez-Pascau L, Coll MJ, Casas J, Vilageliu L, Grinberg D. Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference. Jimd Reports. 4: 29-37. PMID 23430894 DOI: 10.1007/8904_2011_64  0.803
2012 Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L. Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Molecular Genetics and Metabolism. 107: 716-20. PMID 23142039 DOI: 10.1016/J.Ymgme.2012.10.004  0.85
2012 Giraldo P, Alfonso P, Irún P, Gort L, Chabás A, Vilageliu L, Grinberg D, Sá Miranda CM, Pocovi M. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet Journal of Rare Diseases. 7: 17. PMID 22429443 DOI: 10.1186/1750-1172-7-17  0.673
2012 Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A, Antón-Aguirre S, Martín I, Muñoz L, Bufill E, Vilageliu L, Grinberg D, Cozar M, et al. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 393-9. PMID 22173904 DOI: 10.1002/Mds.24045  0.731
2011 Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassilatis D, Vilageliu L, Grinberg D, Xiromerisiou G, Stefanis L, Michelakakis H. β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease. Molecular Genetics and Metabolism. 104: 149-52. PMID 21745757 DOI: 10.1016/J.Ymgme.2011.06.015  0.732
2011 Cozar M, Bembi B, Dominissini S, Zampieri S, Vilageliu L, Grinberg D, Dardis A. Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event. Molecular Genetics and Metabolism. 102: 226-8. PMID 21036086 DOI: 10.1016/J.Ymgme.2010.10.004  0.728
2011 Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabás A, Coll MJ, Grinberg D, Vilageliu L. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clinical Genetics. 80: 367-74. PMID 20825431 DOI: 10.1111/J.1399-0004.2010.01525.X  0.849
2011 Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ. Molecular analysis of 30 Niemann-Pick type C patients from Spain. Clinical Genetics. 80: 39-49. PMID 20718790 DOI: 10.1111/J.1399-0004.2010.01504.X  0.787
2010 Michelakakis H, Dimitriou E, Moraitou M, Valari M, Yatrakou E, Mitsiadi V, Cozar M, Vilageliu L, Grinberg D, Karachristou K. Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case. Blood Cells, Molecules & Diseases. 44: 82-3. PMID 20005137 DOI: 10.1016/J.Bcmd.2009.11.007  0.658
2009 Rodríguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. Human Mutation. 30: E993-E1001. PMID 19718781 DOI: 10.1002/Humu.21119  0.858
2009 Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Human Mutation. 30: 1117-22. PMID 19405096 DOI: 10.1002/Humu.21018  0.849
2009 Sánchez-Ollé G, Duque J, Egido-Gabás M, Casas J, Lluch M, Chabás A, Grinberg D, Vilageliu L. Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease. Blood Cells, Molecules & Diseases. 42: 159-66. PMID 19167250 DOI: 10.1016/J.Bcmd.2008.11.002  0.751
2008 Santamaria R, Vilageliu L, Grinberg D. SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing. Bmc Research Notes. 1: 137. PMID 19114006 DOI: 10.1186/1756-0500-1-137  0.781
2008 Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D. Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. Human Mutation. 29: E58-67. PMID 18429048 DOI: 10.1002/Humu.20776  0.852
2008 Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Molecular Genetics and Metabolism. 94: 305-12. PMID 18406185 DOI: 10.1016/J.Ymgme.2008.02.012  0.826
2008 Atrian S, López-Viñas E, Gómez-Puertas P, Chabás A, Vilageliu L, Grinberg D. An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease. Proteins. 70: 882-91. PMID 17803231 DOI: 10.1002/Prot.21554  0.796
2007 Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. Journal of Lipid Research. 48: 2275-82. PMID 17664528 DOI: 10.1194/Jlr.M700308-Jlr200  0.835
2007 Gort L, Santamaria R, Grinberg D, Vilageliu L, Chabás A. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. Clinical Genetics. 72: 109-11. PMID 17661814 DOI: 10.1111/J.1399-0004.2007.00843.X  0.828
2007 Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Molecular Genetics and Metabolism. 92: 122-30. PMID 17643332 DOI: 10.1016/J.Ymgme.2007.06.002  0.835
2006 Diaz-Font A, Chabás A, Grinberg D, Vilageliu L. RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases. Blood Cells, Molecules & Diseases. 37: 197-203. PMID 16959503 DOI: 10.1016/J.Bcmd.2006.07.002  0.795
2006 Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. Human Mutation. 27: 1060. PMID 16941474 DOI: 10.1002/Humu.9451  0.85
2006 Michelakakis H, Moraitou M, Dimitriou E, Santamaria R, Sanchez G, Gort L, Chabas A, Grinberg D, Dassopoulou M, Fotopoulos S, Vilageliu L. Homozygosity for the double D409H+H255Q allele in type II Gaucher disease. Journal of Inherited Metabolic Disease. 29: 591. PMID 16830265 DOI: 10.1007/S10545-006-0316-X  0.838
2006 Montfort M, Chabás A, Vilageliu L, Grinberg D. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients. Blood Cells, Molecules & Diseases. 36: 46-52. PMID 16326120 DOI: 10.1016/J.Bcmd.2005.10.002  0.761
2005 Díaz-Font A, Santamaría R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabás A, Vilageliu L, Grinberg D. Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation. Molecular Genetics and Metabolism. 86: 206-11. PMID 16125993 DOI: 10.1016/J.Ymgme.2005.07.004  0.853
2005 Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. Blood Cells, Molecules & Diseases. 35: 253-8. PMID 15967693 DOI: 10.1016/J.Bcmd.2005.04.007  0.84
2005 Diaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Human Genetics. 117: 275-7. PMID 15856305 DOI: 10.1007/S00439-005-1288-X  0.843
2005 Montfort M, Chabás A, Vilageliu L, Grinberg D. A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy Human Mutation. 26: 274-275. DOI: 10.1002/Humu.20218  0.687
2004 Montfort M, Garrido E, Hopwood JJ, Grinberg D, Chabás A, Vilageliu L. Expression and functional characterization of human mutant sulfamidase in insect cells. Molecular Genetics and Metabolism. 83: 246-51. PMID 15542396 DOI: 10.1016/J.Ymgme.2004.07.001  0.812
2004 Montfort M, Chabás A, Vilageliu L, Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. Human Mutation. 23: 567-75. PMID 15146461 DOI: 10.1002/Humu.20043  0.698
2003 Diaz-Font A, Cormand B, Chabás A, Vilageliu L, Grinberg D. Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells, Molecules & Diseases. 31: 183-6. PMID 12972023 DOI: 10.1016/S1079-9796(03)00157-8  0.842
2003 Díaz-Font A, Cormand B, Blanco M, Chamoles N, Chabás A, Grinberg D, Vilageliu L. Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients. Human Genetics. 112: 426-9. PMID 12589426 DOI: 10.1007/S00439-002-0894-0  0.829
2002 Paloma E, Coco R, Martínez-Mir A, Vilageliu L, Balcells S, Gonzàlez-Duarte R. Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies. Human Mutation. 20: 476. PMID 12442277 DOI: 10.1002/Humu.9086  0.664
2002 Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. Journal of Medical Genetics. 39: E66. PMID 12362048 DOI: 10.1136/Jmg.39.10.E66  0.57
2001 Rodríguez-Marí A, Díaz-Font A, Chabás A, Pastores GM, Grinberg D, Vilageliu L. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms. Blood Cells, Molecules & Diseases. 27: 950-9. PMID 11783960 DOI: 10.1006/Bcmd.2001.0468  0.754
2001 Paloma E, Martínez-Mir A, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. Human Mutation. 17: 504-10. PMID 11385708 DOI: 10.1002/Humu.1133  0.742
2001 Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. American Journal of Medical Genetics. 100: 223-8. PMID 11343308 DOI: 10.1002/Ajmg.1248  0.785
2000 Cormand B, Díaz A, Grinberg D, Chabás A, Vilageliu L. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. Blood Cells, Molecules & Diseases. 26: 409-16. PMID 11112377 DOI: 10.1006/Bcmd.2000.0317  0.838
2000 Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, Vilageliu L, Grinberg D. On the age of the most prevalent Gaucher disease-causing mutation, N370S. American Journal of Human Genetics. 66: 2014-5. PMID 10801390 DOI: 10.1086/302935  0.822
1999 Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, Vilageliu L, Grinberg D. Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago. American Journal of Human Genetics. 64: 1233-8. PMID 10090913 DOI: 10.1086/302341  0.793
1998 Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation. American Journal of Medical Genetics. 80: 343-51. PMID 9856561 DOI: 10.1002/(Sici)1096-8628(19981204)80:4<343::Aid-Ajmg8>3.0.Co;2-W  0.857
1998 Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D. Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. Human Mutation. 12: 274-9. PMID 9744479 DOI: 10.1002/(Sici)1098-1004(1998)12:4<274::Aid-Humu9>3.0.Co;2-F  0.776
1998 Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome. Human Mutation. 11: 295-305. PMID 9554746 DOI: 10.1002/(Sici)1098-1004(1998)11:4<295::Aid-Humu7>3.0.Co;2-6  0.843
1998 Bayés M, Goldaracena B, Martínez-Mir A, Iragui-Madoz MI, Solans T, Chivelet P, Bussaglia E, Ramos-Arroyo MA, Baiget M, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Grinberg D. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. Journal of Medical Genetics. 35: 141-5. PMID 9507394 DOI: 10.1136/Jmg.35.2.141  0.754
1998 Martínez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature Genetics. 18: 11-2. PMID 9425888 DOI: 10.1038/Ng0198-11  0.705
1997 Cormand B, Montfort M, Chabás A, Vilageliu L, Grinberg D. Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. Human Genetics. 100: 75-9. PMID 9225972 DOI: 10.1007/S004390050468  0.797
1997 Martínez-Mir A, Vilela C, Bayés M, Valverde D, Dain L, Beneyto M, Marco M, Baiget M, Grinberg D, Balcells S, Gonzàlez-Duarte R, Vilageliu L. Putative association of a mutant ROM1 allele with retinitis pigmentosa. Human Genetics. 99: 827-30. PMID 9187681 DOI: 10.1007/S004390050456  0.804
1997 Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A. Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. American Journal of Medical Genetics. 70: 437-43. PMID 9182788 DOI: 10.1002/(Sici)1096-8628(19970627)70:4<437::Aid-Ajmg19>3.0.Co;2-I  0.853
1997 Martínez-Mir A, Bayés M, Vilageliu L, Grinberg D, Ayuso C, del Río T, García-Sandoval B, Bussaglia E, Baiget M, Gonzàlez-Duarte R, Balcells S. A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics. 40: 142-6. PMID 9070931 DOI: 10.1006/Geno.1996.4528  0.791
1997 Bayés M, Martínez-Mir A, Valverde D, del Río E, Vilageliu L, Grinberg D, Balcells S, Ayuso C, Baiget M, Gonzàlez-Duarte R. Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease. Clinical Genetics. 50: 380-7. PMID 9007328 DOI: 10.1111/J.1399-0004.1996.Tb02392.X  0.799
1996 Cormand B, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Chabás A, Grinberg D. Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients. Human Mutation. 7: 272-4. PMID 8829663 DOI: 10.1002/(Sici)1098-1004(1996)7:3<272::Aid-Humu14>3.0.Co;2-#  0.836
1996 Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu L, Bayés M, Chivelet P, Besmond C, Goossens M, González-Duarte R, Baiget M. A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Human Genetics. 97: 35-8. PMID 8557257 DOI: 10.1007/Bf00218829  0.788
1995 Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzàlez-Duarte R, Vilageliu L. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. Journal of Medical Genetics. 32: 740-2. PMID 8544197 DOI: 10.1136/Jmg.32.9.740  0.816
1995 Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A. Gaucher disease in Spanish patients: analysis of eight mutations. Human Mutation. 5: 303-9. PMID 7627184 DOI: 10.1002/Humu.1380050406  0.853
1995 Bayés M, Valverde D, Balcells S, Grinberg D, Vilageliu L, Benítez J, Ayuso C, Beneyto M, Baiget M, Gonzàlez-Duarte R. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Human Genetics. 96: 89-94. PMID 7607661 DOI: 10.1007/Bf00214192  0.787
1994 Valverde D, Bayés M, Martínez I, Grinberg D, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Baiget M. Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Human Genetics. 94: 193-4. PMID 8045567 DOI: 10.1007/Bf00202869  0.744
1993 Chabas A, Castellvi S, Bayes M, Balcells S, Grinberg D, Vilageliu LI, Marfany G, Lissens W, Gonzalez-Duarte R. Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population Clinical Genetics. 44: 320-323. PMID 8131304 DOI: 10.1111/J.1399-0004.1993.Tb03908.X  0.742
1992 Cobo A, Grinberg D, Balcells S, Vilageliu L, Gonzàlez-Duarte R, Baiget M. Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. Human Genetics. 89: 287-91. PMID 1351033 DOI: 10.1007/Bf00220541  0.751
1991 Visa N, Marfany G, Vilageliu L, Albalat R, Atrian S, Gonzàlez-Duarte R. The Adh in Drosophila: chromosomal location and restriction analysis in species with different phylogenetic relationships. Chromosoma. 100: 315-22. PMID 1860376 DOI: 10.1007/Bf00360530  0.757
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