Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America von Santamaria, R, Blanco, M, Chabás, A, Grinberg, D, Vilageliu, L

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Molecular analysis of 30 Niemann-Pick type C patients from Spain von Macías-Vidal, J, Rodríguez-Pascau, L, Sánchez-Ollé, G, Lluch, M, Vilageliu, L, Grinberg, D, Coll, MJ

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Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island von Mavridou, I., Cozar, M., Douzgou, S., Xaidara, A., Lianou, D., Vanier, M.T., Dimitriou, E., Grinberg, D., Vilageliu, L., Michelakakis, H.

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Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles von Canals, I, Elalaoui, SC, Pineda, M, Delgadillo, V, Szlago, M, Jaouad, IC, Sefiani, A, Chabás, A, Coll, MJ, Grinberg, D, Vilageliu, L

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Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis von Gort, L, Santamaria, R, Grinberg, D, Vilageliu, L, Chabás, A

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Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity von Stauffert, Fabien, Serra-Vinardell, Jenny, Gómez-Grau, Marta, Michelakakis, Helen, Mavridou, Irene, Grinberg, Daniel, Vilageliu, Lluïsa, Casas, Josefina, Bodlenner, Anne, Delgado, Antonio, Compain, Philippe

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Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms von Montfort, Magda, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel

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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 von Paloma, E, Martínez-Mir, A, García-Sandoval, B, Ayuso, C, Vilageliu, L, Gonzàlez-Duarte, R, Balcells, S

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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR von Dean, Michael, Ayuso, Carmen, Allikmets, Rando, Balcells, Susana, Paloma, Eva, Río, Teresa del, Gonzàlez-Duarte, Roser, Vilageliu, Lluísa, Martínez-Mir, Amalia

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Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation von Chabás, A, Cormand, B, Grinberg, D, Burguera, J M, Balcells, S, Merino, J L, Mate, I, Sobrino, J A, Gonzàlez-Duarte, R, Vilageliu, L

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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 von Díaz, Anna, Zeng, Baijin, Pastores, Gregory M., Chabás, Amparo, Vilageliu, Lluïsa, Montfort, Magda, Cormand, Bru, Grinberg, Daniel

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Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease von Cormand, B., Montfort, M., Chabás, A., Grinberg, D., Vilageliu, L.

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A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity von DIAZ-FONT, Anna, CORMAND, Bru, SANTAMARIA, Raül, VILAGELIU, Lluïsa, GRINBERG, Daniel, CHABAS, Amparo

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A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33 von 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

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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... von Chabás, Amparo, Gort, Laura, Díaz-Font, Anna, Montfort, Magdalena, Santamaría, Raül, Cidrás, Manuel, Grinberg, Daniel, Vilageliu, Lluïsa

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Original Article: Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis von Gort, L, Santamaria, R, Grinberg, D, Vilageliu, L, Chabás, A

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Short Report: Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America von Santamaria, R, Blanco, M, Chabás, A, Grinberg, D, Vilageliu, L

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Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients von Montfort, Magda, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel

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A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy von Montfort, Magda, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel

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Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation von Díaz-Font, Anna, Santamaría, Raül, Cozar, Mònica, Blanco, Mariana, Chamoles, Néstor, Coll, Maria Josep, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel

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