Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Emma Koehorst"'
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Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1
Autor: Emma Koehorst, Jakub Chojnacki, Judit Núñez-Manchón, Mònica Suelves, Ana Pilar Gómez-Escribano, Rafael P. Vázquez-Manrique, Jaume Coll-Cantí, Andrea Arbex, Alicia Martínez-Piñeiro, Alba Ramos-Fransi, Guillem Pintos-Morell, Miriam Almendrote, Gisela Nogales-Gadea, Giuseppe Lucente, Alfonsina Ballester-Lopez
Publikováno v: Journal of Clinical Medicine; Volume 10; Issue 23; Pages: 5520
Journal of Clinical Medicine
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Journal of Clinical Medicine, Vol 10, Iss 5520, p 5520 (2021)
Scientia
Traducció RAN; Transcripció antisentit; Moduladors fenotípics Traducción RAN; Transcripción antisentido; Moduladores fenotípicos RAN translation; Antisense transcription; Phenotypic modulators Myotonic Dystrophy type 1 (DM1) is a muscular dystr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::338ec6d37a6b41031e99d72cb50b0a41
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3
Manifesting heterozygotes in McArdle disease
Autor: Alejandro Lucia, Carlos Rodriguez-Lopez, Ignacio Ara, Alejandro Santos-Lozano, Alfredo Santalla, Ian Linares-Pardo, Emma Koehorst, Gisela Nogales-Gadea, Alba Ramos-Fransi, Daniëlle Coenen, Miriam Almendrote, Judit Núñez-Manchón, Miguel A. Martín, Guillem Pintos-Morell, Alfonsina Ballester-Lopez, Joaquín Arenas, Giuseppe Lucente, Alicia Martínez-Piñeiro, Mauricio de Castro, Jaume Coll-Cantí
Publikováno v: Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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Journal of Inherited Metabolic Disease, 41(6), 1027-1035. Wiley
McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. Some cases of “manifesting” heterozygotes or carriers (i.e., patients who show some McArdle-like symptoms
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8da98cd3d23a3807e4f579b7c7a2ee
https://cris.maastrichtuniversity.nl/en/publications/52723cfd-81a3-4149-873c-faf67343d401
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4
The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I
Autor: Gisela Nogales-Gadea, Emma Koehorst, Alicia Martínez-Piñeiro, Alfonsina Ballester-Lopez, Virginia Arechavala-Gomeza
Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 9, Iss 3939, p 3939 (2020)
MicroRNAs (miRNAs) are mostly known for their gene regulation properties, but they also play an important role in intercellular signaling. This means that they can be found in bodily fluids, giving them excellent biomarker potential. Myotonic Dystrop
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b010d3bc62114df65cbe2a225193b691
http://europepmc.org/articles/PMC7762003
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6
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1
Autor: Gisela Nogales-Gadea, Ian Linares-Pardo, Emma Koehorst, Alba Ramos-Fransi, Jaume Coll-Cantí, Guillem Pintos-Morell, Jonathan J. Magaña, Andrea Arbex, Sarah A. Cumming, Alejandro Lucia, Alfonsina Ballester-Lopez, Darren G. Monckton, Alicia Martínez-Piñeiro, Miriam Almendrote, Giuseppe Lucente, Nadia M Murillo-Melo, Judit Núñez-Manchón
Publikováno v: Genes
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Genes, Vol 11, Iss 757, p 757 (2020)
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 relate
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce5ec8b1b6e85823aa165e4a9c33853
https://pubmed.ncbi.nlm.nih.gov/32645888
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7
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype
Autor: Emma Koehorst, Alejandro Lucia, Alicia Martínez-Piñeiro, Shaliza Ann Hanick, Marta Lopez-Osias, Alfonsina Ballester-Lopez, Nicolau Guanyabens, Gisela Nogales-Gadea, Miriam Almendrote, Giuseppe Lucente, Jaume Coll-Cantí, Alba Ramos-Fransi, Adrián Suárez-Mesa, Guillem Pintos-Morell, Ian Linares-Pardo, Jakub Chojnacki, Judit Núñez-Manchón
Publikováno v: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Neurology-Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Neurology: Genetics
ObjectiveWe aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1).MethodsWe obtained myoblasts from 6 patients with DM1 and 6 controls. We measured cytosine-thymine-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f61c190fcd0ae06fcd171295ac2ab1
https://hdl.handle.net/11268/9157
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