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1.
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19 p, 4.3 MB |
Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1
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Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Chojnacki, Jakub (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Vázquez-Manrique, Rafael P. (Instituto de Salud Carlos III) ;
Gómez-Escribano, Ana Pilar (Instituto de Salud Carlos III) ;
Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Suelves Esteban, Mònica (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona
Myotonic Dystrophy type 1 (DM1) is a muscular dystrophy with a multi-systemic nature. It was one of the first diseases in which repeat associated non-ATG (RAN) translation was described in 2011, but has not been further explored since. [...]
2021 -  10.3390/jcm10235520
Journal of clinical medicine, Vol. 10 (november 2021)
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2.
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21 p, 3.0 MB |
An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation
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Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Odria, Renato (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Capó, Júlia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Arbex, Andrea (Institut Germans Trias i Pujol) ;
Almendrote, Míriam (Institut Germans Trias i Pujol) ;
Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Natera de Benito, Daniel. (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ;
Saez, Verónica (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ;
Nascimento, Andrés (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ;
Ortez González, Carlos Ignacio (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ;
Rubio, Miguel Ángel (Hospital del Mar (Barcelona, Catalunya)) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Lucente, Giuseppe (Institut Germans Trias i Pujol) ;
Rodriguez-Palmero, Agustín (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Ramos-Fransi, Alba (Institut Germans Trias i Pujol) ;
Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol) ;
Nogales-Gadea, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Suelves, Mònica (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona
Myotonic dystrophy type 1 (DM1) is a progressive, non-treatable, multi-systemic disorder. To investigate the contribution of epigenetics to the complexity of DM1, we compared DNA methy-lation profiles of four annotated CpG islands (CpGis) in the DMPK locus and neighbouring genes, in distinct DM1 tissues and derived cells, representing six DM1 subtypes, by bisulphite sequencing. [...]
2022 - 10.3390/biomedicines10061372
Biomedicines, Vol. 10 Núm. 6 (june 2022) , p. 1372
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3.
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10 p, 758.5 KB |
Drug-refractory myasthenia gravis : Clinical characteristics, treatments, and outcome
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Cortés-Vicente, Elena (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Álvarez-Velasco, Rodrigo (Institut d'Investigació Biomèdica Sant Pau) ;
Pla-Junca, Francesc (Instituto de Salud Carlos III) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Paradas, Carmen (Instituto de Biomedicina de Sevilla) ;
Sevilla, Teresa (Universitat de València. Departament de Medicina) ;
Casasnovas, Carlos (Hospital Universitari de Bellvitge) ;
Gómez-Caravaca, María Teresa (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Pardo, Julio (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ;
Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Pelayo-Negro, Ana Lara (Universidad de Cantabria) ;
Gutiérrez-Gutiérrez, Gerardo (Universidad Europea de Madrid) ;
Turon-Sans, Janina (Universitat Autònoma de Barcelona. Departament de Medicina) ;
López de Munain, Adolfo (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Guerrero-Sola, Antonio (Hospital Clínico San Carlos (Madrid)) ;
Jericó, Ivonne (Instituto de Investigación Sanitaria de Navarra) ;
Martín, María Asunción (Complejo Asistencial Hospitalario de Burgos) ;
Mendoza, María Dolores (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Morís, Germán (Hospital Universitario Central de Asturias) ;
Vélez-Gómez, Beatriz (Universidad de Sevilla) ;
García-Sobrino, Tania (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ;
Pascual-Goñi, Elba (Institut d'Investigació Biomèdica Sant Pau) ;
Reyes-Leiva, David (Institut d'Investigació Biomèdica Sant Pau) ;
Illa, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau)
To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment. This observational retrospective cross-sectional multicenter study was based on data from the Spanish MG Registry (NMD-ES). [...]
2022 - 10.1002/acn3.51492
Annals of Clinical and Translational Neurology, Vol. 9 Núm. 2 (january 2022) , p. 122-131
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4.
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11 p, 701.5 KB |
Analysis of Serum miRNA Profiles of Myasthenia Gravis Patients
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Nogales, Gisela (Institut d'Investigació Biomèdica Sant Pau) ;
Ramos-Fransi, Alba (Institut d'Investigació Biomèdica Sant Pau) ;
Suarez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ;
Navas Madroñal, Miquel (Institut d'Investigació Biomèdica Sant Pau) ;
Rojas-Garcia, Ricard (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Mosquera, José Luis (Universitat de Barcelona. Departament d'Estadística) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Querol, Luis (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Illa, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Universitat Autònoma de Barcelona
Myasthenia gravis (MG) is an autoimmune disease characterized by the presence of autoantibodies, mainly against the acetylcholine receptor (AChR). The mechanisms triggering and maintaining this chronic disease are unknown. [...]
2014 - 10.1371/journal.pone.0091927
PloS one, Vol. 9 (march 2014)
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5.
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8 p, 946.1 KB |
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
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Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Puente-Alonso, Carles (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Monckton, Darren G. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK) ;
Cumming, Sarah A. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK) ;
Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ;
Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona.
Departament de Medicina
Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. [...]
2020 - 10.3390/genes11111321
Genes, Vol. 11 (november 2020)
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6.
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9 p, 816.6 KB |
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1
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Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ;
Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Magaña, Jonathan J. (National Rehabilitation Institute (Mèxic)) ;
Murillo-Melo, Nadia M. (National Rehabilitation Institute (Mèxic)) ;
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Monckton, Darren G. (University of Glasgow) ;
Cumming, Sarah A. (University of Glasgow) ;
Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona
The number of cytosine-thymine-guanine (CTG) repeats ('CTG expansion size') in the 3'untranslated region (UTR) region of the dystrophia myotonica -protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. [...]
2020 - 10.3390/genes11070757
Genes, Vol. 11 (july 2020)
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7.
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9 p, 439.8 KB |
Three-dimensional imaging in myotonic dystrophy type 1
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Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Núñez-Manchón, Judit (Institut Germans Trias i Pujol) ;
Koehorst, Emma (Institut Germans Trias i Pujol) ;
Linares-Pardo, Ian (Institut Germans Trias i Pujol) ;
Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Guanyabens i Giral, Nicolau (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lopez-Osias, Marta (Institut Germans Trias i Pujol) ;
Suárez-Mesa, Adrián (Institut Germans Trias i Pujol) ;
Hanick, Shaliza Ann (Institut Germans Trias i Pujol) ;
Chojnacki, Jakub (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Pintos-Morell, Guillem (Institut Germans Trias i Pujol) ;
Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Nogales, Gisela (Institut Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona
We aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1). We obtained myoblasts from 6 patients with DM1 and 6 controls. [...]
2020 - 10.1212/NXG.0000000000000484
Neurology: Genetics, Vol. 6 (july 2020)
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