Publications
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Herrera S, Soriano R, Nogués X, Güerri-Fernandez R, Grinberg-Vaisman DR, García-Giralt N, Martinez-Gil N, Castejón S, González-Lizarán A, Balcells S and Diez-Perez A.
Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.
OSTEOPOROSIS INTERNATIONAL . 28(12): 3489-3493. Number of citations: 5
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De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg-Vaisman DR, García-Giralt N and 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(1): 36-36. Number of citations: 2
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Stauffert F, Serra-Vinardell J, Gómez-Grau M, Michelakakis H, Mavridou I, Grinberg-Vaisman DR, Vilageliu L, Casas J, Bodlenner A, Delgado A and Compain P.
Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on ß-glucocerebrosidase activity.
ORG BIOMOL CHEM . 15(17): 3681-3705. Number of citations: 9
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Urreizti R, Cueto-Gonzalez, Ana Maria, Franco-Valls, Héctor, Mort-Farre, Silvia, Roca N, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio M, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo, Cormand B, Vilageliu L, Opitz, John, Neri, Giovanni, Grinberg-Vaisman DR and Balcells S.
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: 44138-44138. Number of citations: 28
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Gómez-Grau M, Albaigès J, Casas J, Auladell C, Dierssen M, Vilageliu L and Grinberg-Vaisman DR.
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: 41931-41931. Number of citations: 24
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Mavridou I, Dimitriou E, Vanier MT, Vilageliu L, Grinberg-Vaisman DR, Latour P, Xaidara A, Lycopoulou L, Bostantjopoulou S, Zafeiriou D and Michelakakis H.
The Spectrum of Niemann-Pick Type C Disease in Greece.
JIMD Reports . 36: 41-48. Number of citations: 9
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Vilageliu L and Grinberg-Vaisman DR.
Involvement of Gaucher Disease Mutations in Parkinson Disease.
CURR PROTEIN PEPT SC . 18(7): 758-764. Number of citations: 5
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Urreizti R, Roca N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S and Grinberg-Vaisman DR.
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 170A(1): 24-31. Number of citations: 11
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De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg-Vaisman DR, García-Giralt N and Díez-Pérez A.
MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.
BMC MEDICAL GENOMICS . 8: 75-75. Number of citations: 79
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Canals I, Soriano J, Orlandi JG, Torrent R, Richaud-Patin Y, Jiménez-Delgado S, Merlin S, Follenzi A, Consiglio A, Vilageliu L, Grinberg-Vaisman DR and Raya A.
Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks.
STEM CELL REPORTS . 5(4): 546-557. Number of citations: 25