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ArticlesPeer ReviewedFull Text
Miglustat in Niemann-Pick disease type C patients: a review
Author / Creator:Pineda, Mercè ; Walterfang, Mark ; Patterson, Marc C.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.140-140, Article 140
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Disease and patient characteristics in NP-C patients: findings from an international disease registry
Author / Creator:Patterson, Marc C ; Mengel, Eugen ; Wijburg, Frits A ; Muller, Audrey ; Schwierin, Barbara ; Drevon, Harir ; Vanier, Marie T ; Pineda, Mercé
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.12-12
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Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
Author / Creator:Vidal, Silvia ; Xiol, Clara ; Pascual-Alonso, Ainhoa ; O’Callaghan, M. ; Pineda, Mercè ; Armstrong, Judith
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2019-08, Vol.20 (16), p.3925
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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
Author / Creator:Patterson, Marc C ; Mengel, Eugen ; Vanier, Marie T ; Schwierin, Barbara ; Muller, Audrey ; Cornelisse, Peter ; Pineda, Mercè
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.65-65, Article 65
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Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
Author / Creator:Lucariello, Mario ; Vidal, Enrique ; Vidal, Silvia ; Saez, Mauricio ; Roa, Laura ; Huertas, Dori ; Pineda, Mercè ; Dalfó, Esther ; Dopazo, Joaquin ; Jurado, Paola ; Armstrong, Judith ; Esteller, Manel
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2016-12, Vol.135 (12), p.1343-1354
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ArticlesPeer ReviewedFull Text
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
Author / Creator:Gónzalez-Meneses, Antonio ; Pineda, Mercè ; Bandeira, Anabela ; Janeiro, Patrícia ; Ruiz, María Ángeles ; Diogo, Luisa ; Cancho-Candela, Ramón
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-445, Article 445
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Plasma coenzyme Q10 status is impaired in selected genetic conditions
Author / Creator:Montero, Raquel ; Yubero, Delia ; Salgado, Maria C. ; González, María Julieta ; Campistol, Jaume ; O’Callaghan, Maria del Mar ; Pineda, Mercè ; Delgadillo, Verónica ; Maynou, Joan ; Fernandez, Guerau ; Montoya, Julio ; Ruiz-Pesini, Eduardo ; Meavilla, Silvia ; Neergheen, Viruna ; García-Cazorla, Angels ; Navas, Placido ; Hargreaves, Iain ; Artuch, Rafael
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-01, Vol.9 (1), p.793-793, Article 793
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ArticlesPeer ReviewedFull Text
iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
Author / Creator:Tristán‐Noguero, Alba ; Fernández‐Carasa, Irene ; Calatayud, Carles ; Bermejo‐Casadesús, Cristina ; Pons‐Espinal, Meritxell ; Colini Baldeschi, Arianna ; Campa, Leticia ; Artigas, Francesc ; Bortolozzi, Analia ; Domingo‐Jiménez, Rosario ; Ibáñez, Salvador ; Pineda, Mercè ; Artuch, Rafael ; Raya, Ángel ; García‐Cazorla, Àngels ; Consiglio, Antonella
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2023-03, Vol.15 (3), p.e15847-n/a
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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Author / Creator:Vidal, Silvia ; Brandi, Núria ; Pacheco, Paola ; Gerotina, Edgar ; Blasco, Laura ; Trotta, Jean-Rémi ; Derdak, Sophia ; del Mar O’Callaghan, Maria ; Garcia-Cazorla, Àngels ; Pineda, Mercè ; Armstrong, Judith
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-09, Vol.11 (1), p.18146-18146, Article 18146
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The phenotype associated with a large deletion on MECP2
Author / Creator:Bebbington, Ami ; Downs, Jenny ; Percy, Alan ; Pineda, Mercé ; Zeev, Bruria Ben ; Bahi-Buisson, Nadia ; Leonard, Helen
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-09, Vol.20 (9), p.921-927
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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients
Author / Creator:Pérez‐Grijalba, Virginia ; García‐Oguiza, Alberto ; López, María ; Armstrong, Judith ; García‐Miñaur, Sixto ; Mesa‐Latorre, Jose María ; O'Callaghan, Mar ; Pineda Marfa, Mercé ; Ramos‐Arroyo, Maria Antonia ; Santos‐Simarro, Fernando ; Seidel, Verónica ; Domínguez‐Garrido, Elena
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-11, Vol.7 (11), p.e972-n/a
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Comprehensive Analysis of GABA A -A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
Author / Creator:Oyarzabal, Alfonso ; Xiol, Clara ; Castells, Alba Aina ; Grau, Cristina ; O'Callaghan, Mar ; Fernández, Guerau ; Alcántara, Soledad ; Pineda, Mercè ; Armstrong, Judith ; Altafaj, Xavier ; García-Cazorla, Angels
Publisher:Switzerland
Journal title:International journal of molecular sciences, 2020-01, Vol.21 (2)
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ArticlesPeer ReviewedFull Text
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
Author / Creator:Vidal, Silvia ; Pascual‐Alonso, Ainhoa ; Rabaza‐Gairí, Marc ; Gerotina, Edgar ; Brandi, Nuria ; Pacheco, Paola ; Xiol, Clara ; Pineda, Mercè ; Armstrong, Judith
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e793-n/a
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Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism
Author / Creator:Tristán-Noguero, Alba ; Díez, Héctor ; Jou, Cristina ; Pineda, Mercè ; Ormazábal, Aida ; Sánchez, Aurora ; Artuch, Rafael ; Garcia-Cazorla, Àngels
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2016-06, Vol.31 (3), p.705-709
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ArticlesPeer ReviewedFull Text
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain
Author / Creator:Quintana, Ester ; Pineda, Mercé ; Font, Aida ; Vilaseca, Maria Antonia ; Tort, Frederic ; Ribes, Antonia ; Briones, Paz
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.315-319
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ArticlesPeer ReviewedFull Text
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
Author / Creator:Montero, Raquel ; Pineda, Mercé ; Aracil, Asun ; Vilaseca, Maria-Antonia ; Briones, Paz ; Sánchez-Alcázar, José-Antonio ; Navas, Plácido ; Artuch, Rafael
Publisher:United States: Springer Nature B.V
Journal title:Cerebellum (London, England), 2007-01, Vol.6 (2), p.118-122
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Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
Author / Creator:De Grandis, Elisa ; Serrano, Mercedes ; Pérez-Dueñas, Belén ; Ormazábal, Aida ; Montero, Raquel ; Veneselli, Edvige ; Pineda, Mercè ; González, Verónica ; Sanmartí, Francesc ; Fons, Carmen ; Sans, Anna ; Cormand, Bru ; Puelles, Luis ; Alonso, Antonia ; Campistol, Jaime ; Artuch, Rafael ; García-Cazorla, Angels
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (6), p.803-809
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ArticlesPeer ReviewedFull Text
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset
Author / Creator:del Mar O’Callaghan, María ; Emperador, Sonia ; López-Gallardo, Ester ; Jou, Cristina ; Buján, Nuria ; Montero, Raquel ; Garcia-Cazorla, Àngels ; Gonzaga, Diana ; Ferrer, Isidre ; Briones, Paz ; Ruiz-Pesini, Eduardo ; Pineda, Mercè ; Artuch, Rafael ; Montoya, Julio
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Neurogenetics, 2012-08, Vol.13 (3), p.245-250
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Author / Creator:Xiol, Clara ; Vidal, Silvia ; Pascual-Alonso, Ainhoa ; Blasco, Laura ; Brandi, Núria ; Pacheco, Paola ; Gerotina, Edgar ; O’Callaghan, Mar ; Pineda, Mercè ; Armstrong, Judith
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-08, Vol.9 (1), p.11983-9, Article 11983
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ArticlesPeer ReviewedFull Text
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Author / Creator:Fernández-Marmiesse, Ana ; Morey, Marcos ; Pineda, Merce ; Eiris, Jesús ; Couce, Maria ; Castro-Gago, Manuel ; Fraga, Jose ; Lacerda, Lucia ; Gouveia, Sofia ; Pérez-Poyato, Maria ; Armstrong, Judith ; Castiñeiras, Daisy ; Cocho, Jose A
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.59-59
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Showing 1 to 20 of 36 results

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Miglustat in Niemann-Pick disease type C patients: a review

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Disease and patient characteristics in NP-C patients: findings from an international disease registry

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Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

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Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

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Plasma coenzyme Q10 status is impaired in selected genetic conditions

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iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

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The phenotype associated with a large deletion on MECP2

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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

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Comprehensive Analysis of GABA A -A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

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Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

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Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

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Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

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Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency

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Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

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New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

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