Molecular analysis of 30 Niemann-Pick type C patients from Spain
Macías-Vidal, J, Rodríguez-Pascau, L, Sánchez-Ollé, G, Lluch, M, Vilageliu, L, Grinberg, D, Coll, MJ
Published in Clinical genetics (01.07.2011)
Published in Clinical genetics (01.07.2011)
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Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island
Mavridou, I., Cozar, M., Douzgou, S., Xaidara, A., Lianou, D., Vanier, M.T., Dimitriou, E., Grinberg, D., Vilageliu, L., Michelakakis, H.
Published in Clinical genetics (01.06.2014)
Published in Clinical genetics (01.06.2014)
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Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles
Canals, I, Elalaoui, SC, Pineda, M, Delgadillo, V, Szlago, M, Jaouad, IC, Sefiani, A, Chabás, A, Coll, MJ, Grinberg, D, Vilageliu, L
Published in Clinical genetics (01.10.2011)
Published in Clinical genetics (01.10.2011)
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Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis
Gort, L, Santamaria, R, Grinberg, D, Vilageliu, L, Chabás, A
Published in Clinical genetics (01.08.2007)
Published in Clinical genetics (01.08.2007)
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Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa
Paloma, E, Martínez-Mir, A, García-Sandoval, B, Ayuso, C, Vilageliu, L, Gonzàlez-Duarte, R, Balcells, S
Published in Journal of medical genetics (01.10.2002)
Published in Journal of medical genetics (01.10.2002)
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Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation
Chabás, A, Cormand, B, Grinberg, D, Burguera, J M, Balcells, S, Merino, J L, Mate, I, Sobrino, J A, Gonzàlez-Duarte, R, Vilageliu, L
Published in Journal of medical genetics (01.09.1995)
Published in Journal of medical genetics (01.09.1995)
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Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease
Cormand, B., Montfort, M., Chabás, A., Grinberg, D., Vilageliu, L.
Published in Prenatal diagnosis (01.03.1998)
Published in Prenatal diagnosis (01.03.1998)
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Gaucher Disease: The N370S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago
Díaz, Anna, Zeng, Baijin, Pastores, Gregory M., Chabás, Amparo, Vilageliu, Lluïsa, Montfort, Magda, Cormand, Bru, Grinberg, Daniel
Published in American journal of human genetics (01.04.1999)
Published in American journal of human genetics (01.04.1999)
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A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33
Bayés, M, Goldaracena, B, Martínez-Mir, A, Iragui-Madoz, M I, Solans, T, Chivelet, P, Bussaglia, E, Ramos-Arroyo, M A, Baiget, M, Vilageliu, L, Balcells, S, Gonzàlez-Duarte, R, Grinberg, D
Published in Journal of medical genetics (01.02.1998)
Published in Journal of medical genetics (01.02.1998)
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Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity
Stauffert, Fabien, Serra-Vinardell, Jenny, Gomez-Grau, Marta, Michelakakis, Helen, Mavridou, Irene, Grinberg, Daniel, Vilageliu, Lluisa, Casas, Josefina, Bodlenner, Anne, Delgado, Antonio, Compain, Philippe
Published in Organic & biomolecular chemistry (2017)
Published in Organic & biomolecular chemistry (2017)
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Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease
Bayés, M, Martínez-Mir, A, Valverde, D, del Río, E, Vilageliu, L, Grinberg, D, Balcells, S, Ayuso, C, Baiget, M, Gonzàlez-Duarte, R
Published in Clinical genetics (01.11.1996)
Published in Clinical genetics (01.11.1996)
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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
Dean, Michael, Ayuso, Carmen, Allikmets, Rando, Balcells, Susana, Paloma, Eva, Río, Teresa del, Gonzàlez-Duarte, Roser, Vilageliu, Lluísa, Martínez-Mir, Amalia
Published in Nature genetics (01.01.1998)
Published in Nature genetics (01.01.1998)
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Original Article: Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis
Gort, L, Santamaria, R, Grinberg, D, Vilageliu, L, Chabás, A
Published in Clinical genetics (01.08.2007)
Published in Clinical genetics (01.08.2007)
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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
Chabás, Amparo, Gort, Laura, Díaz-Font, Anna, Montfort, Magdalena, Santamaría, Raül, Cidrás, Manuel, Grinberg, Daniel, Vilageliu, Lluïsa
Published in Blood cells, molecules, & diseases (01.09.2005)
Published in Blood cells, molecules, & diseases (01.09.2005)
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