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1

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients

Bru Cormand, Lluïsa Vilageliu, Susana Balcells, Roser Gonzàlez-Duarte, Amparo Chabás, Daniel Grinberg

Journal:

Year:

1996

Language:

english

File:

PDF, 298 KB

english, 1996

2

Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome

Bru Cormand, Daniel Grinberg, Laura Gort, Amparo Chabás, Lluïsa Vilageliu

Journal:

Year:

1998

Language:

english

File:

PDF, 227 KB

english, 1998

3

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms

Magda Montfort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Year:

2004

Language:

english

File:

PDF, 219 KB

english, 2004

4

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

Raül Santamaria, Amparo Chabás, Maria Josep Coll, Clara Sa Miranda, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Year:

2006

Language:

english

File:

PDF, 174 KB

english, 2006

5

Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

Agnieszka Lugowska, Olga Amaral, Johannes Berger, Linda Berna, Nils U. Bosshard, Amparo Chabas, Anthony Fensom, Volkmar Gieselmann, Natalia G. Gorovenko, Willy Lissens, Jan-Eric Mansson, Ana Marcao, H

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 331 KB

english, 2005

6

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Pilar Giraldo, Pilar Alfonso, Pilar Irún, Laura Gort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg, Clara M Sá Miranda, Miguel Pocovi

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 251 KB

english, 2012

7

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

Cormand, Bru, Grinberg, Daniel, Gort, Laura, Fiumara, Agata, Barone, Rita, Vilageliu, Lluïsa, Chabás, Amparo

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 324 KB

english, 1997

8

Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation

Laura Gort, Amparo Chabás, M. Josep Coll

Journal:

Year:

1998

Language:

english

File:

PDF, 27 KB

english, 1998

9

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

Magda Montfort, Lluïsa Vilageliu, Natàlia Garcia-Giralt, Silvina Guidi, Maria Josep Coll, Amparo Chabás, Daniel Grinberg

Journal:

Year:

1998

Language:

english

File:

PDF, 247 KB

english, 1998

10

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype–phenotype correlation studies in spanish metachromatic leukodystrophy patients

Laura Gort, M. Josep Coll, Amparo Chabás

Journal:

Year:

1999

Language:

english

File:

PDF, 305 KB

english, 1999

11

Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation

Laura Gort, M. Josep Coll, Amparo Chabás

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

12

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: Possible single origin for 1091delC mutation

Amparo Chabás, Magda Montfort, Maruxa Martínez-Campos, Anna Díaz, Maria Josep Coll, Daniel Grinberg, Lluïsa Vilageliu

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 115 KB

english, 2001

13

Thermodynamic determination of β-hexosaminidase isoenzymes in mononuclear and polymorphonuclear leukocyte populations

J. Antonio Casal, Amparo Chabás, J. Carlos Tutor

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

14

Gaucher disease in Spanish patients: Analysis of eight mutations

Bru Cormand, Lluïsa Vilageliu, José M. Burguera, Susana Balcells, Roser Gonzàlez-Duarte, Daniel Grinberg, Amparo Chabás

Journal:

Year:

1995

Language:

english

File:

PDF, 613 KB

english, 1995

15

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with hunter disease

Laura Gort, M. Josep Coll, Amparo Chabás

Journal:

Year:

1998

Language:

english

File:

PDF, 293 KB

english, 1998

16

Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and “modifier” polymorphisms

Magda Montfort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

17

A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy

Magda Montfort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005

18

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele

Raül Santamaria, Helen Michelakakis, Marina Moraitou, Evangelia Dimitriou, Silvia Dominissini, Serena Grossi, Gessamí Sánchez-Ollé, Amparo Chabás, María Gabriela Pittis, Mirella Filocamo, Lluïsa Vilag

Journal:

Year:

2008

Language:

english

File:

PDF, 362 KB

english, 2008

19

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients

Laura Rodríguez-Pascau, Laura Gort, Edward H. Schuchman, Lluïsa Vilageliu, Daniel Grinberg, Amparo Chabás

Journal:

Year:

2009

Language:

english

File:

PDF, 195 KB

english, 2009

20

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female

Adriana Rodríguez-Marí, M. José Coll, Amparo Chabás

Journal:

Year:

2003

Language:

english

File:

PDF, 40 KB

english, 2003

21

Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult-onset GM1 gangliosidosis

Jaume Campdelacreu, Esteban Muñoz, Beatriz Gómez, Teresa Pujol, Amparo Chabás, Eduardo Tolosa

Journal:

Movement Disorders

Year:

2002

Language:

english

File:

PDF, 394 KB

english, 2002

22

An evolutionary and structure-based docking model for glucocerebrosidase–saposin C and glucocerebrosidase–substrate interactions—Relevance for Gaucher disease

Sílvia Atrian, Eduardo López-Viñas, Paulino Gómez-Puertas, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Proteins: Structure, Function, and Bioinformatics

Year:

2008

Language:

english

File:

PDF, 678 KB

english, 2008

23

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients

Anna Díaz-Font, Bru Cormand, Mariana Blanco, Néstor Chamoles, Amparo Chabás, Daniel Grinberg, Lluïsa Vilageliu

Journal:

Year:

2003

Language:

english

File:

PDF, 248 KB

english, 2003

24

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

Anna Diaz-Font, Bru Cormand, Raül Santamaria, Lluïsa Vilageliu, Daniel Grinberg, Amparo Chabás

Journal:

Year:

2005

Language:

english

File:

PDF, 202 KB

english, 2005

25

Genetic fine localization of the β-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

B. Cormand, Magda Montfort, Amparo Chabás, Lluïsa Vilageliu, D. Grinberg

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

26

Homozygosity for the double D409H+H255Q allele in type II Gaucher disease

Helen Michelakakis, Marina Moraitou, Evagelia Dimitriou, Raul Santamaria, Gessami Sanchez, Laura Gort, Amparo Chabas, Daniel Grinberg, Maria Dassopoulou, Spyros Fotopoulos, Lluisa Vilageliu

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 153 KB

english, 2006

27

Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations

Tomatsu, Shunji, Sukegawa, Kazuko, Trandafirescu, Georgeta G, Gutierrez, Monica A, Nishioka, Tatsuo, Yamaguchi, Seiji, Orii, Tadao, Froissart, Roseline, Maire, Irene, Chabas, Amparo

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 211 KB

english, 2006

28

Understanding the biology of X-linked diseases

Amparo Chabás, Rudolf Happle

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 35 KB

english, 2006

29

On the Mechanism of Carbamoylphosphate Synthetase

Amparo Chabas, Santiago Grisolia, Richard Silverstein

Journal:

Year:

1972

Language:

english

File:

PDF, 946 KB

english, 1972

30

A New Gene–Pseudogene Fusion Allele Due to a Recombination in Intron 2 of the Glucocerebrosidase Gene Causes Gaucher Disease

Bru Cormand, Anna Dı́az, Daniel Grinberg, Amparo Chabás, Lluı̈sa Vilageliu

Journal:

Blood Cells, Molecules, and Diseases

Year:

2000

Language:

english

File:

PDF, 181 KB

english, 2000

31

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

Adriana Rodrı́guez-Marı́, Anna Dı́az-Font, Amparo Chabás, Gregory M. Pastores, Daniel Grinberg, Lluı̈sa Vilageliu

Journal:

Blood Cells, Molecules, and Diseases

Year:

2001

Language:

english

File:

PDF, 101 KB

english, 2001

32

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

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

Journal:

Blood Cells, Molecules, and Diseases

Year:

2005

Language:

english

File:

PDF, 112 KB

english, 2005

33

RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases

Anna Diaz-Font, Amparo Chabás, Daniel Grinberg, Lluïsa Vilageliu

Journal:

Blood Cells, Molecules, and Diseases

Year:

2006

Language:

english

File:

PDF, 306 KB

english, 2006

34

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients

Magda Montfort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Blood Cells, Molecules, and Diseases

Year:

2006

Language:

english

File:

PDF, 403 KB

english, 2006

35

Promising results of the chaperone effect caused by iminosugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease

Gessamí Sánchez-Ollé, Joana Duque, Meritxell Egido-Gabás, Josefina Casas, Montserrat Lluch, Amparo Chabás, Daniel Grinberg, Lluïsa Vilageliu

Journal:

Blood Cells, Molecules, and Diseases

Year:

2009

Language:

english

File:

PDF, 833 KB

english, 2009

36

Expression and functional characterization of human mutant sulfamidase in insect cells

Magda Montfort, Elena Garrido, John J. Hopwood, Daniel Grinberg, Amparo Chabás, Lluïsa Vilageliu

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 509 KB

english, 2004

37

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation

Anna Díaz-Font, Raül Santamaría, Mònica Cozar, Mariana Blanco, Néstor Chamoles, Maria Josep Coll, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 273 KB

english, 2005

38

Molecular analysis in two β-mannosidosis patients: Description of a new adult case

Laura Gort, Joana Duque, José M. Fabeiro, Ander Zulaica, Maria Josep Coll, Amparo Chabás

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 221 KB

english, 2006

39

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux–Lamy syndrome) patients, including 9 novel mutations

Elena Garrido, Amparo Chabás, Maria Josep Coll, Mariana Blanco, Carmen Domínguez, Daniel Grinberg, Lluïsa Vilageliu, Bru Cormand

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 468 KB

english, 2007

40

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

Els Schollen, Liesbeth Keldermans, François Foulquier, Paz Briones, Amparo Chabas, Félix Sánchez-Valverde, Maciej Adamowicz, Ewa Pronicka, Ron Wevers, Gert Matthijs

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 368 KB

english, 2007

41

Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G>C mutation

Laura Gort, M. Josep Coll, Amparo Chabás

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 116 KB

english, 2007

42

Maroteaux–Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene

Elena Garrido, Bru Cormand, John J. Hopwood, Amparo Chabás, Daniel Grinberg, Lluïsa Vilageliu

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.37 MB

english, 2008

43

Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease

Anna Diaz-Font, Bru Cormand, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Blood Cells, Molecules, and Diseases

Year:

2003

Language:

english

File:

PDF, 121 KB

english, 2003

44

Gaucher Disease: The N370S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago

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

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 621 KB

english, 1999

45

On the Age of the Most Prevalent Gaucher Disease–Causing Mutation, N370S

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

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 49 KB

english, 2000

46

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

Paz Briones, M Antonia Vilaseca, M Teresa Garcı&amp, #x0301, a-Silva, Mercé Pineda, Jaume Colomer, Imma Ferrer, J Artigas, Jaak Jaeken, Amparo Chabás

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 79 KB

english, 2001

47

Understanding the biology of X-linked diseases

Chabás, Amparo, Happle, Rudolf

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 42 KB

english, 2006