Výsledky vyhledávání - "Ian Linares-Pardo"

Akademický článek

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

Publikováno v: Biomedicines, Vol 10, Iss 6, p 1372 (2022)

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 methylation profiles of four annotated CpG islands (CpGis) in the DMPK

Externí odkaz: https://doaj.org/article/b576b232a7bf4442838513ca2c248aa2

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Muscle single-cell analysis reveals that RNA foci accumulation is linked to muscle dysfunction in patients with myotonic dystrophy type I

Autor: Jaume Col-Cantí, Emma Koehorst, Adolfo López de Munain, Darren G. Monckton, Jonathan J. Magaña, Judit Núñez-Manchón, Sarah A. Cumming, Alba Ramos-Fransi, Laura Palomo, Miriam Almendrote, Guillem Pintos-Morell, Giuseppe Lucente, Alejandro Lucia, Gisela Nogales-Gadea, Alicia Martínez-Piñeiro, Francesc Solé, Ian Linares-Pardo, Ana Maria Cobo, Alfonsina Ballester-Lopez

Single cell analysis has numerous potential applications, for instance in the context of myotonic dystrophy type I (DM1). This disease is caused by a CTG expansion in the dystrophia myotonica-protein kinase (DMPK) gene, with CTG expansion length bein

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4b5ca38f75c9c8812059a7bc8fd0630d
https://doi.org/10.22541/au.159602544.49698039

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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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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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Three-dimensional imaging in myotonic dystrophy type 1

Autor: Alfonsina Ballester-Lopez, Judit Núñez-Manchón, Emma Koehorst, Ian Linares-Pardo, Miriam Almendrote, Giuseppe Lucente, Nicolau Guanyabens, Marta Lopez-Osias, Adrián Suárez-Mesa, Shaliza Ann Hanick, Jakub Chojnacki, Alejandro Lucia, Guillem Pintos-Morell, Jaume Coll-Cantí, Alicia Martínez-Piñeiro, Alba Ramos-Fransi, Gisela Nogales-Gadea

Publikováno v: Neurology Genetics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::61f61c190fcd0ae06fcd171295ac2ab1

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Manifesting heterozygotes in McArdle disease

Publikováno v: Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
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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Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

Publikováno v: Journal of Inherited Metabolic Disease. 41:1295-1295

Unfortunately the name of one of the authors was spelled incorrectly in the published original article. The correct name is Alejandro Santos-Lozano. The original article got updated.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fdc4eda31c88df15718135fe68e68244
https://doi.org/10.1007/s10545-018-0236-6

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