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

Authors: Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud, Cristina Bermejo‐Casadesús, Meritxell Pons‐Espinal, Arianna Colini Baldeschi, Leticia Campa, Francesc Artigas, Analia Bortolozzi, Rosario Domingo‐Jiménez, Salvador Ibáñez, Mercè Pineda, Rafael Artuch, Ángel Raya, Àngels García‐Cazorla, Antonella Consiglio

Source: EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-15 (2023)

Subject Terms: dopamine, iPSC, L‐Dopa, Parkinsonism, tyrosine hydroxylase deficiency, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/e22ef144c32047569cfc1dd967018c9c

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

Authors: Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Subject Terms: Mucopolysaccharidosis, Sly syndrome, Rare disease, MPS VII, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/72104a0d828544ed9e06b17ee583309d

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

Authors: Mercè Pineda, Mark Walterfang, Marc C. Patterson

Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-21 (2018)

Subject Terms: Niemann-Pick disease type C, Miglustat, Efficacy, Biomarker, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0844-0; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/1a17d8e122b4490c84c430f32854bf7a

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

Authors: Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/8843af3e508f46809b9ffcd7f84bf86f

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

Authors: Silvia Vidal, Ainhoa Pascual‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong

Source: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)

Subject Terms: large deletions, MECP2, Phenotype‐genotype correlations, Rett syndrome, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/1c84a3c1e8154de99ac1fb8e067727f2

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Authors: Catia S. Pereira, Begoña Pérez-Cabezas, Helena Ribeiro, M. Luz Maia, M. Teresa Cardoso, Ana F. Dias, Olga Azevedo, M. Fatima Ferreira, Paula Garcia, Esmeralda Rodrigues, Paulo Castro-Chaves, Esmeralda Martins, Patricio Aguiar, Mercè Pineda, Yasmina Amraoui, Simona Fecarotta, Elisa Leão-Teles, Shenglou Deng, Paul B. Savage, M. Fatima Macedo

Source: Frontiers in Immunology, Vol 10 (2019)

Subject Terms: lipid antigen presentation, CD1b, CD1d, dendritic cells, monocytes, lysosomal storage diseases, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2019.01264/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/9d7d6cafc1fa40ae99d4db6b74bf5ce7

Vanishing White Matter Disease in a Spanish Population

Authors: Eulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, Concha Sierra-Córcoles, Naiara Olabarrieta-Hoyos, Marcos Madruga-Garrido, Javier Aguirre-Rodríguez, Verónica González-Álvarez, Mar O’Callaghan, Jordi Muchart, Judith Armstrong-Moron

Source: Journal of Central Nervous System Disease, Vol 2014, Iss 6, Pp 59-68 (2014)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.la-press.com/vanishing-white-matter-disease-in-a-spanish-population-article-a4289; https://doaj.org/toc/1179-5735

Access URL: https://doaj.org/article/7d82afabc4a44215a8fb849d52ef7c8b

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

Authors: Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido

Source: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)

Subject Terms: CREBBP, epigenetics, genotype–phenotype correlation, Rubinstein‐Taybi syndrome, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/64f4772ba8c645adabb9856b4244a604

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RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE

Authors: James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm

Source: Педиатрическая фармакология, Vol 7, Iss 1, Pp 16-24 (2010)

Subject Terms: Pediatrics, RJ1-570, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://pf.spr-journal.ru/jour/article/view/1192; https://doaj.org/toc/1727-5776; https://doaj.org/toc/2500-3089

Access URL: https://doaj.org/article/a2f8e54d5f36471f9c310d286edcb43d