| Year |
Citation |
Score |
| 2022 |
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martínez-Cabrera R, Prat-Planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-Fuentes AJ, Marfany G, Artuch R, Grinberg D, Rabionet R, et al. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. Journal of Medical Genetics. PMID 36243518 DOI: 10.1136/jmg-2022-108690 |
0.799 |
|
| 2022 |
Ovejero D, Garcia-Giralt N, Martínez-Gil N, Rabionet R, Balcells S, Grinberg D, Pérez-Jurado LA, Nogués X, Foronda IE. Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions. Bone. 161: 116450. PMID 35623613 DOI: 10.1016/j.bone.2022.116450 |
0.801 |
|
| 2022 |
López-Márquez A, Morín M, Fernández-Peñalver S, Badosa C, Hernández-Delgado A, Natera-de Benito D, Ortez C, Nascimento A, Grinberg D, Balcells S, Roldán M, Moreno-Pelayo MÁ, Jiménez-Mallebrera C. CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts. International Journal of Molecular Sciences. 23. PMID 35457228 DOI: 10.3390/ijms23084410 |
0.312 |
|
| 2022 |
Martínez-Gil N, Ovejero D, Garcia-Giralt N, Bruque CD, Mellibovsky L, Nogués X, Rabionet R, Grinberg D, Balcells S. Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci. Jbmr Plus. 6: e10602. PMID 35434450 DOI: 10.1002/jbm4.10602 |
0.814 |
|
| 2022 |
Martínez-Gil N, Mellibovsky L, Manzano-López González D, Patiño JD, Cozar M, Rabionet R, Grinberg D, Balcells S. On the association between Chiari malformation type 1, bone mineral density and bone related genes. Bone Reports. 16: 101181. PMID 35313637 DOI: 10.1016/j.bonr.2022.101181 |
0.74 |
|
| 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 |
0.72 |
|
| 2022 |
Garcia-Giralt N, Roca-Ayats N, Abril JF, Martinez-Gil N, Ovejero D, Castañeda S, Nogues X, Grinberg D, Balcells S, Rabionet R. Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment. Genes. 13. PMID 35052486 DOI: 10.3390/genes13010146 |
0.815 |
|
| 2022 |
Martínez-Gil N, Ugartondo N, Grinberg D, Balcells S. Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. Genes. 13. PMID 35052478 DOI: 10.3390/genes13010138 |
0.736 |
|
| 2021 |
Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg D, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, et al. A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders. Frontiers in Endocrinology. 12: 709711. PMID 34539568 DOI: 10.3389/fendo.2021.709711 |
0.598 |
|
| 2021 |
Ugartondo N, Martínez-Gil N, Esteve M, Garcia-Giralt N, Roca-Ayats N, Ovejero D, Nogués X, Díez-Pérez A, Rabionet R, Grinberg D, Balcells S. Functional Analyses of Four Missense Mutations Present in Patients with Atypical Femoral Fractures. International Journal of Molecular Sciences. 22. PMID 34299011 DOI: 10.3390/ijms22147395 |
0.827 |
|
| 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 |
0.725 |
|
| 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 |
0.793 |
|
| 2021 |
Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, Prat-Planas A, Bullich G, Matalonga L, Centeno-Pla M, Rabionet R, Grinberg D, Balcells S, Urreizti R. and Mutations in a Highly Consanguineous Family. International Journal of Molecular Sciences. 22. PMID 33557041 DOI: 10.3390/ijms22041549 |
0.843 |
|
| 2021 |
Martínez-Gil N, Roca-Ayats N, Cozar M, Garcia-Giralt N, Ovejero D, Nogués X, Grinberg D, Balcells S. Genetics and Genomics of : Functional Analysis of Variants and Genomic Regulation in Osteoblasts. International Journal of Molecular Sciences. 22. PMID 33419004 DOI: 10.3390/ijms22020489 |
0.805 |
|
| 2020 |
Martínez-Gil N, Roca-Ayats N, Atalay N, Pineda-Moncusí M, Garcia-Giralt N, Van Hul W, Boudin E, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells S. Functional Assessment of Coding and Regulatory Variants From the Locus. Jbmr Plus. 4: e10423. PMID 33354644 DOI: 10.1002/jbm4.10423 |
0.821 |
|
| 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 |
0.8 |
|
| 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 |
0.841 |
|
| 2020 |
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, ... ... Grinberg D, et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32376980 DOI: 10.1038/S41436-020-0792-7 |
0.812 |
|
| 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 |
0.781 |
|
| 2020 |
Urreizti R, Lopez-Martin E, Martinez-Monseny A, 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 M, Grinberg D, Bermejo-Sánchez E, et al. Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. Orphanet Journal of Rare Diseases. 15: 44. PMID 32041641 DOI: 10.1186/S13023-020-1317-9 |
0.819 |
|
| 2020 |
De-Ugarte L, Balcells S, Guerri-Fernandez R, Grinberg D, Diez-Perez A, Nogues X, Garcia-Giralt N. Effect of the Tumor Suppressor miR-320a on Viability and Functionality of Human Osteosarcoma Cell Lines Compared to Primary Osteoblasts Applied Sciences. 10: 2852. DOI: 10.3390/App10082852 |
0.562 |
|
| 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 |
0.793 |
|
| 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 |
0.8 |
|
| 2019 |
Leon E, Diaz J, Castilla-Vallmanya L, Grinberg D, Balcells S, Urreizti R. Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. American Journal of Medical Genetics. Part A. PMID 31692235 DOI: 10.1002/Ajmg.A.61397 |
0.815 |
|
| 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 |
0.772 |
|
| 2019 |
Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg. PMID 31477843 DOI: 10.1038/s41431-019-0394-5 |
0.786 |
|
| 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 |
0.78 |
|
| 2019 |
Roca-Ayats N, Martínez-Gil N, Cozar M, Gerousi M, Garcia-Giralt N, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells S. Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3. Bone. 123: 39-47. PMID 30878523 DOI: 10.1016/J.Bone.2019.03.014 |
0.799 |
|
| 2019 |
Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg. PMID 30877278 DOI: 10.1038/S41431-019-0374-9 |
0.807 |
|
| 2019 |
Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg D, Kirk EP, Urreizti R. Case report of a child bearing a novel deleterious splicing variant in PIGT. Medicine. 98: e14524. PMID 30813157 DOI: 10.1097/Md.0000000000014524 |
0.8 |
|
| 2019 |
Urreizti R, Grinberg D, Balcells S. C syndrome - what do we know and what could the future hold? Expert Opinion On Orphan Drugs. 7: 91-94. DOI: 10.1080/21678707.2019.1589448 |
0.65 |
|
| 2018 |
De-Ugarte L, Balcells S, Nogues X, Grinberg D, Diez-Perez A, Garcia-Giralt N. Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress. Plos One. 13: e0208131. PMID 30485349 DOI: 10.1371/Journal.Pone.0208131 |
0.712 |
|
| 2018 |
Roca-Ayats N, Ng PY, Garcia-Giralt N, Falcó-Mascaró M, Cozar M, Abril JF, Quesada Gómez JM, Prieto-Alhambra D, Nogués X, Dunford JE, Russell RG, Baron R, Grinberg D, Balcells S, Díez-Pérez A. Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 30184270 DOI: 10.1002/Jbmr.3580 |
0.77 |
|
| 2018 |
Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet R, Erçal D, Grinberg D, Balcells S. The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. Clinical Case Reports. 6: 1452-1456. PMID 30147881 DOI: 10.1002/Ccr3.1603 |
0.83 |
|
| 2018 |
Martínez-Gil N, Roca-Ayats N, Monistrol-Mula A, García-Giralt N, Díez-Pérez A, Nogués X, Mellibovsky L, Grinberg D, Balcells S. Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density. Scientific Reports. 8: 10951. PMID 30026596 DOI: 10.1038/S41598-018-29242-8 |
0.805 |
|
| 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 |
0.825 |
|
| 2018 |
De-Ugarte L, Serra-Vinardell J, Nonell L, Balcells S, Arnal M, Nogues X, Mellibovsky L, Grinberg D, Diez-Perez A, Garcia-Giralt N. Expression profiling of microRNAs in human bone tissue from postmenopausal women. Human Cell. 31: 33-41. PMID 28933035 DOI: 10.1007/S13577-017-0181-Y |
0.77 |
|
| 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 |
0.769 |
|
| 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 |
0.751 |
|
| 2017 |
Herrera S, Soriano R, Nogués X, Güerri-Fernandez R, Grinberg D, García-Giralt N, Martínez-Gil N, Castejón S, González-Lizarán A, Balcells S, Diez-Perez A. Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. PMID 28842728 DOI: 10.1007/S00198-017-4198-6 |
0.782 |
|
| 2017 |
De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg D, García-Giralt N, Díez-Pérez A. Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones. Bmc Medical Genomics. 10: 36. PMID 28535813 DOI: 10.1186/s12920-017-0272-3 |
0.768 |
|
| 2017 |
Roca-Ayats N, Balcells S, Garcia-Giralt N, Falcó-Mascaró M, Martínez-Gil N, Abril JF, Urreizti R, Dopazo J, Quesada-Gómez JM, Nogués X, Mellibovsky L, Prieto-Alhambra D, Dunford JE, Javaid MK, Russell RG, ... Grinberg D, et al. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. The New England Journal of Medicine. 376: 1794-1795. PMID 28467865 DOI: 10.1056/Nejmc1612804 |
0.794 |
|
| 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 |
0.765 |
|
| 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, ... ... Grinberg D, 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 |
0.831 |
|
| 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 |
0.826 |
|
| 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 |
0.768 |
|
| 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 |
0.796 |
|
| 2017 |
Roca-Ayats N, Cozar Morillo M, Gerousi M, Czwan E, Urreizti R, Martínez-Gil N, García-Giralt N, Mellibovsky L, Nogués X, Díez-Pérez A, Balcells S, Grinberg D. Identificación de variantes genéticas asociadas con la densidad mineral ósea (DMO) en el gen FLJ42280 Revista De Osteoporosis Y Metabolismo Mineral. 9: 28-34. DOI: 10.4321/S1889-836X2017000100005 |
0.792 |
|
| 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 |
0.727 |
|
| 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 |
0.814 |
|
| 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 |
0.797 |
|
| 2016 |
García-Giralt N, De-Ugarte L, Yoskovitz G, Güerri R, Grinberg D, Nogués X, Mellibovsky L, Balcells S, Díez-Pérez S. Estudio del patrón de expresión de microRNAs en el hueso osteoporótico Revista De Osteoporosis Y Metabolismo Mineral. 8: 5-14. DOI: 10.4321/S1889-836X2016000100002 |
0.717 |
|
| 2016 |
Martinez-Gil N, Roca-Ayats N, Urreizti R, Franco-Valls H, Garcia-Giralt N, Mellibovsky L, Nogues X, Diez-Perez A, Grinberg D, Balcells S. Search for BMD-related variants of DKK1 and SOST by resequencing in the BARCOS cohort Bone Abstracts. DOI: 10.1530/Boneabs.5.P239 |
0.772 |
|
| 2015 |
De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg D, García-Giralt N, Díez-Pérez A. MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones. Bmc Medical Genomics. 8: 75. PMID 26555194 DOI: 10.1186/S12920-015-0149-2 |
0.77 |
|
| 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 |
0.795 |
|
| 2015 |
Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, ... ... Grinberg D, et al. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. PMID 26367794 DOI: 10.1038/Nature14878 |
0.632 |
|
| 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 |
0.794 |
|
| 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 |
0.817 |
|
| 2015 |
Rodríguez-Sanz M, García-Giralt N, Prieto-Alhambra D, Servitja S, Balcells S, Pecorelli R, Díez-Pérez A, Grinberg D, Tusquets I, Nogués X. CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss. Journal of Molecular Endocrinology. 55: 69-79. PMID 26108486 DOI: 10.1530/Jme-15-0079 |
0.753 |
|
| 2015 |
Cammarata-Scalisi F, Cozar M, Grinberg D, Balcells S, Asteggiano CG, Martínez-Domenech G, Bracho A, Sánchez Y, Stock F, Delgado-Luengo W, Zara-Chirinos C, Chacín JA. [Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses]. Archivos Argentinos De PediatríA. 113: e109-12. PMID 25727835 DOI: 10.5546/Aap.2015.E109 |
0.667 |
|
| 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 |
0.826 |
|
| 2014 |
Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg D, Asteggiano CG. A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. Scientific Reports. 4: 6407. PMID 25230886 DOI: 10.1038/Srep06407 |
0.828 |
|
| 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 |
0.825 |
|
| 2014 |
Serra-Vinardell J, DÃaz 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 |
0.789 |
|
| 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 |
0.722 |
|
| 2014 |
Sarrión P, Mellibovsky L, Urreizti R, Civit S, Cols N, García-Giralt N, Yoskovitz G, Aranguren A, Malouf J, Di Gregorio S, Río LD, Güerri R, Nogués X, Díez-Pérez A, Grinberg D, et al. Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women. Plos One. 9: e94607. PMID 24736728 DOI: 10.1371/Journal.Pone.0094607 |
0.825 |
|
| 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 |
0.757 |
|
| 2014 |
Soriano JB, Fernández Vázquez S, Carretero S, Puga González MD, Soriano C, Romaguera D, Alonso-Fernández A, Busquets X, Balcells S, Grinberg D, Poulain M. Description of extreme longevity in the Balearic Islands: Exploring a potential Blue Zone in Menorca, Spain. Geriatrics & Gerontology International. 14: 620-7. PMID 24112374 DOI: 10.1111/Ggi.12148 |
0.57 |
|
| 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 |
0.802 |
|
| 2014 |
Rodriguez-Sanz M, Garcia-Giralt N, Torres-del PE, Prieto-Alhambra D, Servitja S, Balcells S, Mellibovsky L, Grinberg D, Tusquets I, Diez-Perez A, Nogues X. Genetic determinants of bone mineral density loss in aromatase inhibitors treatment in the B-ABLE Cohort Bone Abstracts. DOI: 10.1530/Boneabs.3.Pp192 |
0.727 |
|
| 2014 |
Garcia-Giralt N, De-Ugarte L, Balcells S, Arino-Ballester S, Yoskovitz G, Guerri R, Mellibovsky L, Urreizti R, Nogues X, Grinberg D, Diez-Perez A. MiR-320a and miR-483-5p are over-expressed in osteoblasts from osteoporotic fractured hips Bone Abstracts. DOI: 10.1530/Boneabs.3.Pp124 |
0.76 |
|
| 2013 |
Carreño O, Corominas R, Serra SA, Sintas C, Fernández-Castillo N, Vila-Pueyo M, Toma C, Gené GG, Pons R, Llaneza M, Sobrido MJ, Grinberg D, Valverde MÁ, Fernández-Fernández JM, Macaya A, et al. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies. Molecular Genetics & Genomic Medicine. 1: 206-22. PMID 24498617 DOI: 10.1186/1129-2377-14-S1-P26 |
0.827 |
|
| 2013 |
Garcia-Giralt N, Rodríguez-Sanz M, Prieto-Alhambra D, Servitja S, Torres-Del Pliego E, Balcells S, Albanell J, Grinberg D, Diez-Perez A, Tusquets I, Nogués X. Genetic determinants of aromatase inhibitor-related arthralgia: the B-ABLE cohort study. Breast Cancer Research and Treatment. 140: 385-95. PMID 23868189 DOI: 10.1007/S10549-013-2638-3 |
0.741 |
|
| 2013 |
Yoskovitz G, Garcia-Giralt N, Rodriguez-Sanz M, Urreizti R, Guerri R, Ariño-Ballester S, Prieto-Alhambra D, Mellibovsky L, Grinberg D, Nogues X, Balcells S, Diez-Perez A. Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 2550-60. PMID 23744843 DOI: 10.1002/Jbmr.2001 |
0.807 |
|
| 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 |
0.749 |
|
| 2013 |
Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Scientific Reports. 3: 1346. PMID 23439489 DOI: 10.1038/Srep01346 |
0.84 |
|
| 2013 |
García-Giralt N, Yoskovitz G, Rodríguez-Sanz M, Urreizti R, Guerri R, Prieto-Alhambra D, Mellibovsky L, Grinberg D, Balcells S, Nogués X, Díez-Pérez A. SNPs en el 3'UTR de gen RANK determinan la fractura osteoporótica sitio-dependiente Revista De Osteoporosis Y Metabolismo Mineral. 5: 85-92. DOI: 10.4321/S1889-836X2013000200005 |
0.798 |
|
| 2013 |
Garcia-Giralt N, Yoskovitz G, Rodriguez-Sanz M, Urreizti R, Guerri R, Arino-Ballester S, Prieto-Alhambra D, Mellibovsky L, Grinberg D, Nogues X, Balcells S, Diez-Perez A. Gene-wide association study of RANK and RANKL genes in the bone context: functional study of BMD-associated SNPs Bone Abstracts. DOI: 10.1530/Boneabs.1.Pp278 |
0.802 |
|
| 2013 |
Sarrion P, Mellibovsky L, Urreizti R, Civit S, Cols N, Garcia-Giralt N, Yoskovitz G, Aranguren A, Malouf J, del RL, Guerri R, Nogues X, Diez-Perez A, Grinberg D, Balcells S. A genomic and transcriptomic approach to the high bone mass phenotype: evidences of heterogeneity and of additive effects of TWIST1, IL6R, DLX3, and PPARG Bone Abstracts. DOI: 10.1530/Boneabs.1.Pp277 |
0.78 |
|
| 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 |
0.791 |
|
| 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 |
0.839 |
|
| 2012 |
Delgado MA, Sarrión P, Azar N, Zecchini L, Robledo HH, Segura F, Balcells S, Grinberg D, Dodelson de Kremer R, Asteggiano CG. A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report. The Journal of Bone and Joint Surgery. American Volume. 94: e76. PMID 22637216 DOI: 10.2106/Jbjs.J.01920 |
0.667 |
|
| 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 |
0.742 |
|
| 2012 |
Urreizti R, Garcia-Giralt N, Riancho JA, González-Macías J, Civit S, Güerri R, Yoskovitz G, Sarrion P, Mellivobsky L, Díez-Pérez A, Nogués X, Balcells S, Grinberg D. COL1A1 haplotypes and hip fracture. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 27: 950-3. PMID 22190259 DOI: 10.1002/Jbmr.1536 |
0.787 |
|
| 2012 |
Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A, Antón-Aguirre S, MartÃn 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 |
0.778 |
|
| 2012 |
Yoskovitz⁎ G, Garcia-Giralt N, Prieto-Alhambra D, Urreizti R, Sarrion P, Sole E, Güerri R, Balcells S, Grinberg D, Mellibovsky L, Diez-Perez A, Nogues X. Genotyping putative functional polymorphisms of rank in BARCOS cohort of postmenopausal women Bone. 50: S107-S108. DOI: 10.1016/J.Bone.2012.02.327 |
0.775 |
|
| 2012 |
Soler-Sala M, Cols N, Yoskovitz G, Urreizti R, Sarrión P, García-Giralt N, Güerri R, Mellivobsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells⁎ S. Identification of fused in sarcoma protein (FUS) as a factor binding to the PCOL1 site in the COL1A1 upstream regulatory region Bone. 50: S85. DOI: 10.1016/J.Bone.2012.02.249 |
0.761 |
|
| 2012 |
Garcia-Giralt⁎ N, Urreizti R, Yoskivitz G, Cols N, Güerri R, Sarrion P, Balcells S, Mellibovsky L, Nogues X, Grinberg D, Esbrit P, Diez-Perez A. High glucose activates the Wnt/β-catenin pathway and reduces matrix mineralization in human osteoblastic cells Bone. 50: S81-S82. DOI: 10.1016/J.Bone.2012.02.237 |
0.762 |
|
| 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 |
0.781 |
|
| 2011 |
Agueda L, Velázquez-Cruz R, Urreizti R, Yoskovitz G, Sarrión P, Jurado S, Güerri R, Garcia-Giralt N, Nogués X, Mellibovsky L, DÃez-Pérez A, Marie PJ, Balcells S, Grinberg D. Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 26: 1133-44. PMID 21542013 DOI: 10.1002/Jbmr.293 |
0.803 |
|
| 2011 |
Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S. Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. Human Mutation. 32: 835-42. PMID 21520339 DOI: 10.1002/Humu.21514 |
0.814 |
|
| 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 |
0.784 |
|
| 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 |
0.833 |
|
| 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 |
0.814 |
|
| 2011 |
Urreizti R, Bustamante M, Sarrion P, Cols N, García-Giralt N, Yoskovitz G, Güerri R, Mellibovsky L, Nogués X, Diez-Pérez A, Grinberg D, Balcells S. Effects of BMP2 treatment and CIZ/NMP overexpression on the transcription of several genes in osteoblasts Bone. 48: S158. DOI: 10.1016/J.Bone.2011.03.346 |
0.781 |
|
| 2011 |
Sarrion P, Sangorrin A, Urreizti R, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca M, Balcells S, Grinberg D. Mutations in the EXT1 and EXT2 genes in patients with multiple osteochondromas from Spain Bone. 48: S157. DOI: 10.1016/J.Bone.2011.03.343 |
0.83 |
|
| 2010 |
Pérez B, Rodríguez-Pascau L, Vilageliu L, Grinberg D, Ugarte M, Desviat LR. Present and future of antisense therapy for splicing modulation in inherited metabolic disease. Journal of Inherited Metabolic Disease. 33: 397-403. PMID 20577904 DOI: 10.1007/S10545-010-9135-1 |
0.812 |
|
| 2010 |
Agueda L, Urreizti R, Bustamante M, Jurado S, Garcia-Giralt N, DÃez-Pérez A, Nogués X, Mellibovsky L, Grinberg D, Balcells S. Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort. Calcified Tissue International. 87: 14-24. PMID 20390408 DOI: 10.1007/S00223-010-9361-4 |
0.804 |
|
| 2010 |
Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou A, Vilarinho L, ... ... Grinberg D, et al. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clinical Genetics. 78: 441-8. PMID 20236116 DOI: 10.1111/J.1399-0004.2010.01391.X |
0.81 |
|
| 2010 |
Jurado S, Garcia-Giralt N, DÃez-Pérez A, Esbrit P, Yoskovitz G, Agueda L, Urreizti R, Pérez-Edo L, Saló G, Mellibovsky L, Balcells S, Grinberg D, Nogués X. Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts. Journal of Cellular Biochemistry. 110: 304-10. PMID 20225238 DOI: 10.1002/Jcb.22538 |
0.776 |
|
| 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 |
0.734 |
|
| 2010 |
Jurado S, Nogués X, Agueda L, Garcia-Giralt N, Urreizti R, Yoskovitz G, Pérez-Edo L, Saló G, Carreras R, Mellibovsky L, Balcells S, Grinberg D, DÃez-Pérez A. Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. 21: 287-96. PMID 19436932 DOI: 10.1007/S00198-009-0956-4 |
0.794 |
|
| 2010 |
Giraldo P, Alfonso P, Irún P, Chabas A, Villageliu L, Grinberg D, Miranda CS, Pocovi M. Clinical, Genetic Characteristics and Geographical Distribution of Gaucher Disease In Iberian Peninsulae and Islands Blood. 116: 4729-4729. DOI: 10.1182/Blood.V116.21.4729.4729 |
0.411 |
|
| 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 |
0.839 |
|
| 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 |
0.832 |
|
| 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 |
0.783 |
|
| 2009 |
Jurado⁎ S, Garcia-Giralt N, Díez-Pérez A, Yoskovitz G, Águeda L, Urreizti R, Sarrión P, Pérez-Edo L, Saló G, Carreras R, Mellibovsky L, Balcells S, Grinberg D, Nogues X. Effect of IL-1B, PGE2 and TGF-B1 treatments on OPG and RANKL gene expression and protein synthesis in osteoporotic and normal HOB Bone. 44: S350. DOI: 10.1016/J.Bone.2009.03.166 |
0.766 |
|
| 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 |
0.787 |
|
| 2008 |
Grinberg D. Recent patents relating to siRNAs and therapeutic strategies for genetic diseases. Recent Patents On Dna & Gene Sequences. 2: 40-3. PMID 19075944 DOI: 10.2174/187221508783406530 |
0.317 |
|
| 2008 |
Agueda L, Bustamante M, Jurado S, Garcia-Giralt N, Ciria M, Saló G, Carreras R, Nogués X, Mellibovsky L, DÃez-Pérez A, Grinberg D, Balcells S. A haplotype-based analysis of the LRP5 gene in relation to osteoporosis phenotypes in Spanish postmenopausal women. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 23: 1954-63. PMID 18684085 DOI: 10.1359/Jbmr.080806 |
0.803 |
|
| 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 |
0.843 |
|
| 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 |
0.818 |
|
| 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 |
0.771 |
|
| 2007 |
Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, ... ... Grinberg D, et al. Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. Journal of Human Genetics. 52: 388-389. PMID 32033511 DOI: 10.1007/S10038-006-0103-4 |
0.812 |
|
| 2007 |
Bustamante M, Nogués X, Mellibovsky L, Agueda L, Jurado S, Cáceres E, Blanch J, Carreras R, DÃez-Pérez A, Grinberg D, Balcells S. Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women. European Journal of Endocrinology / European Federation of Endocrine Societies. 157: 677-84. PMID 17984249 DOI: 10.1530/Eje-07-0389 |
0.786 |
|
| 2007 |
Bustamante M, Nogués X, Agueda L, Jurado S, Wesselius A, Cáceres E, Carreras R, Ciria M, Mellibovsky L, Balcells S, DÃez-Pérez A, Grinberg D. Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck bmd in Spanish postmenopausal women. Calcified Tissue International. 81: 327-32. PMID 17878995 DOI: 10.1007/S00223-007-9069-2 |
0.808 |
|
| 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 |
0.829 |
|
| 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 |
0.824 |
|
| 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 |
0.823 |
|
| 2007 |
Mellibovsky L, Bustamante M, Lluch P, Nogues X, Grinberg D, Balcells S, Diez-Perez A. Bone mass of a 113-year-old man. The Journals of Gerontology. Series a, Biological Sciences and Medical Sciences. 62: 794-5. PMID 17634329 DOI: 10.1093/Gerona/62.7.794 |
0.744 |
|
| 2007 |
Urreizti R, Asteggiano C, Vilaseca MA, Corbella E, Pintó X, Grinberg D, Balcells S. A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study. Clinical Biochemistry. 40: 864-8. PMID 17553479 DOI: 10.1016/J.Clinbiochem.2007.04.008 |
0.772 |
|
| 2007 |
Santamaria R, Blanco M, Chabás A, Grinberg D, Vilageliu L. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. Clinical Genetics. 71: 273-9. PMID 17309651 DOI: 10.1111/J.1399-0004.2007.00767.X |
0.823 |
|
| 2007 |
Ruiz-Gaspa S, Nogues X, Enjuanes A, Monllau JC, Blanch J, Carreras R, Mellibovsky L, Grinberg D, Balcells S, Díez-Perez A, Pedro-Botet J. Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures. Journal of Cellular Biochemistry. 101: 1430-8. PMID 17252541 DOI: 10.1002/Jcb.21259 |
0.63 |
|
| 2006 |
Bustamante M, Nogués X, Enjuanes A, Elosua R, García-Giralt N, Pérez-Edo L, Cáceres E, Carreras R, Mellibovsky L, Balcells S, Díez-Pérez A, Grinberg D. COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. 18: 235-43. PMID 17021946 DOI: 10.1007/S00198-006-0225-8 |
0.803 |
|
| 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 |
0.792 |
|
| 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 |
0.836 |
|
| 2006 |
Uitterlinden AG, Ralston SH, Brandi ML, Carey AH, Grinberg D, Langdahl BL, Lips P, Lorenc R, Obermayer-Pietsch B, Reeve J, Reid DM, Amedei A, Amidei A, Bassiti A, Bustamante M, et al. The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis. Annals of Internal Medicine. 145: 255-64. PMID 16908916 DOI: 10.7326/0003-4819-145-4-200608150-00005 |
0.581 |
|
| 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 |
0.83 |
|
| 2006 |
Stewart TL, Jin H, McGuigan FEA, Albagha OME, Garcia-Giralt N, Bassiti A, Grinberg D, Balcells S, Reid DM, Ralston SH. Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women Journal of Clinical Endocrinology and Metabolism. 91: 3575-3583. PMID 16804049 DOI: 10.1210/Jc.2005-2651 |
0.756 |
|
| 2006 |
Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, MartÃnez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, ... ... Grinberg D, et al. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. Journal of Human Genetics. 51: 305-13. PMID 16479318 DOI: 10.1007/S10038-006-0362-0 |
0.809 |
|
| 2006 |
Bermúdez M, Frank N, Bernal J, Urreizti R, Briceño I, Merinero B, Perez-Cerdá C, Ugarte M, Grinberg D, Balcells S, Kraus JP. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. Human Mutation. 27: 296. PMID 16470595 DOI: 10.1002/Humu.9416 |
0.82 |
|
| 2006 |
Urreizti R, Asteggiano C, Cozar M, Frank N, Vilaseca MA, Grinberg D, Balcells S. Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. Human Mutation. 27: 211. PMID 16429402 DOI: 10.1002/Humu.9395 |
0.786 |
|
| 2006 |
Enjuanes A, Garcia-Giralt N, Supervía A, Nogués X, Ruiz-Gaspà S, Bustamante M, Mellibovsky L, Grinberg D, Balcells S, Díez-Pérez A. A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women. Bone. 38: 738-43. PMID 16344016 DOI: 10.1016/J.Bone.2005.10.010 |
0.807 |
|
| 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 |
0.795 |
|
| 2005 |
Enjuanes A, Garcia-Giralt N, Supervía A, Nogués X, Ruiz-Gaspà S, Bustamante M, Mellibovsky L, Grinberg D, Balcells S, Díez-Pérez A. Functional analysis of the I.3, I.6, pII and I.4 promoters of CYP19 (aromatase) gene in human osteoblasts and their role in vitamin D and dexamethasone stimulation. European Journal of Endocrinology. 153: 981-8. PMID 16322405 DOI: 10.1530/Eje.1.02032 |
0.79 |
|
| 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 |
0.839 |
|
| 2005 |
Pintó X, Vilaseca MA, Balcells S, Artuch R, Corbella E, Meco JF, Vila R, Pujol R, Grinberg D. A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations. International Journal of Medical Sciences. 2: 58-63. PMID 15968341 DOI: 10.7150/Ijms.2.58 |
0.581 |
|
| 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 |
0.828 |
|
| 2005 |
Also-Rallo E, Lopez-Quesada E, Urreizti R, Vilaseca MA, Lailla JM, Balcells S, Grinberg D. Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies. European Journal of Obstetrics, Gynecology, and Reproductive Biology. 120: 45-52. PMID 15866085 DOI: 10.1016/J.Ejogrb.2004.08.008 |
0.761 |
|
| 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 |
0.834 |
|
| 2005 |
García-Giralt N, Enjuanes A, Bustamante M, Mellibovsky L, Nogués X, Carreras R, Díez-Pérez A, Grinberg D, Balcells S. In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs. Bone. 36: 902-8. PMID 15814304 DOI: 10.1016/J.Bone.2004.12.012 |
0.802 |
|
| 2005 |
Vilaseca MA, Cuartero ML, Martinez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D. Two successful pregnancies in pyridoxine-nonresponsive homocystinuria. Journal of Inherited Metabolic Disease. 27: 775-7. PMID 15617186 DOI: 10.1023/B:Boli.0000045840.18383.25 |
0.735 |
|
| 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 |
0.752 |
|
| 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 |
0.81 |
|
| 2004 |
Ioannidis JP, Ralston SH, Bennett ST, Brandi ML, Grinberg D, Karassa FB, Langdahl B, van Meurs JB, Mosekilde L, Scollen S, Albagha OM, Bustamante M, Carey AH, Dunning AM, Enjuanes A, et al. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. Jama. 292: 2105-14. PMID 15523071 DOI: 10.1001/Jama.292.17.2105 |
0.597 |
|
| 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 |
0.757 |
|
| 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 |
0.825 |
|
| 2003 |
Urreizti R, Balcells S, Rodés M, Vilarinho L, Baldellou A, Couce ML, Muñoz C, Campistol J, Pintó X, Vilaseca MA, Grinberg D. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. Human Mutation. 22: 103. PMID 12815602 DOI: 10.1002/Humu.9153 |
0.813 |
|
| 2003 |
Enjuanes A, Garcia-Giralt N, Supervia A, Nogués X, Mellibovsky L, Carbonell J, Grinberg D, Balcells S, Díez-Pérez A. Regulation of CYP19 gene expression in primary human osteoblasts: effects of vitamin D and other treatments. European Journal of Endocrinology. 148: 519-26. PMID 12720534 DOI: 10.1530/Eje.0.1480519 |
0.732 |
|
| 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 |
0.831 |
|
| 2002 |
Garcia-Giralt N, Nogués X, Enjuanes A, Puig J, Mellibovsky L, Bay-Jensen A, Carreras R, Balcells S, Díez-Pérez A, Grinberg D. Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 17: 384-93. PMID 11874231 DOI: 10.1359/Jbmr.2002.17.3.384 |
0.759 |
|
| 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 |
0.799 |
|
| 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 |
0.815 |
|
| 2001 |
Enjuanes A, Supervı́a A, Grinberg D, Balcells S, Mellibovsky L, Nogués X, Serrano S, Carbonell J, Dı́ez A. Transcriptional regulation of cytochrome P-450 aromatase gene (CYP19) in human osteoblasts in primary cultures Bone. 29: 305. DOI: 10.1016/S8756-3282(01)00547-6 |
0.615 |
|
| 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 |
0.835 |
|
| 2000 |
Obach V, Arroyo S, Santamaria J, Grinberg D, Oliva R. No evidence of linkage to 6p markers in spanish families with juvenile myoclonic epilepsy. Neuroscience Letters. 286: 213-217. PMID 10832022 DOI: 10.1016/S0304-3940(00)01128-9 |
0.303 |
|
| 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 |
0.813 |
|
| 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 |
0.791 |
|
| 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 |
0.845 |
|
| 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 |
0.838 |
|
| 1998 |
Chabás A, Gort L, Montfort M, Castelló F, Domínguez MC, Grinberg D, Vilageliu L. Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis. Journal of Medical Genetics. 35: 775-7. PMID 9733040 DOI: 10.1136/Jmg.35.9.775 |
0.5 |
|
| 1998 |
Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu LL. Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease. Prenatal Diagnosis. 18: 207-12. PMID 9556036 DOI: 10.1002/(SICI)1097-0223(199803)18:3<207::AID-PD243>3.0.CO;2-W |
0.788 |
|
| 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 |
0.832 |
|
| 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 |
0.789 |
|
| 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 |
0.807 |
|
| 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 |
0.826 |
|
| 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 |
0.836 |
|
| 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 |
0.819 |
|
| 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 |
0.83 |
|
| 1996 |
Chabás A, Cormand B, Balcells S, González-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain. Journal of Inherited Metabolic Disease. 19: 798-800. PMID 8982958 DOI: 10.1007/Bf01799179 |
0.827 |
|
| 1996 |
Valverde D, Baiget M, Seminago R, del Rio E, García-Sandoval B, del Rio T, Bayés M, Balcells S, Martínez A, Grinberg D, Ayuso C. Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. Human Mutation. 8: 393-4. PMID 8956055 DOI: 10.1002/Humu.1380080403 |
0.671 |
|
| 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-# |
0.823 |
|
| 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 |
0.816 |
|
| 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 |
0.805 |
|
| 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 |
0.832 |
|
| 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 |
0.817 |
|
| 1995 |
Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo MA, Chivelet P. Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Human Mutation. 5: 228-34. PMID 7599633 DOI: 10.1002/Humu.1380050307 |
0.801 |
|
| 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 |
0.788 |
|
| 1993 |
Murakami A, Grinberg D, Thurlow J, Dickson C. Identification of positive and negative regulatory elements involved in the retinoic acid/cAMP induction of Fgf-3 transcription in F9 cells Nucleic Acids Research. 21: 5351-5359. PMID 8265348 DOI: 10.1093/Nar/21.23.5351 |
0.609 |
|
| 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 |
0.79 |
|
| 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 |
0.795 |
|
| 1989 |
Grinberg DR, Boronat A, Guinea J. Characterization of B278, a phage different from Mu that also produces auxotrophic mutations in Escherichia coli K12. Journal of General Microbiology. 134: 1333-8. PMID 2974069 DOI: 10.1099/00221287-134-5-1333 |
0.726 |
|
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