نتائج البحث - "Emma Koehorst"

المصدر: 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

مصطلحات موضوعية: Male, 0301 basic medicine, myalgia, Second wind, Genética humana, 0302 clinical medicine, Genetics (clinical), Aged, 80 and over, PAIN, WINGATE ANAEROBIC TEST, Middle Aged, RELIABILITY, Glycogen Phosphorylase, Muscle Form, Female, medicine.symptom, Adult, Heterozygote, medicine.medical_specialty, Weakness, McArdle disease, Statin, medicine.drug_class, Investigación médica, Young Adult, 03 medical and health sciences, Glycogen phosphorylase, Internal medicine, Genetics, medicine, Humans, Family, Genetic Testing, Lactic Acid, Allele, Muscle, Skeletal, PYGM MUTATIONS, Aged, Wingate test, business.industry, Heterozygote advantage, Myalgia, GENE, 030104 developmental biology, Mutation, Exercise Test, Glycogen Storage Disease Type V, UPDATE, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8da98cd3d23a3807e4f579b7c7a2eeTest
https://cris.maastrichtuniversity.nl/en/publications/52723cfd-81a3-4149-873c-faf67343d401Test

7

The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I

المؤلفون: Gisela Nogales-Gadea, Emma Koehorst, Alicia Martínez-Piñeiro, Alfonsina Ballester-Lopez, Virginia Arechavala-Gomeza

المصدر: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 9, Iss 3939, p 3939 (2020)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b010d3bc62114df65cbe2a225193b691Test
http://europepmc.org/articles/PMC7762003Test

8

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

المؤلفون: 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

مصطلحات موضوعية: Cell, RNA, Biology, medicine.disease, Molecular biology, Myotonic dystrophy, chemistry.chemical_compound, medicine.anatomical_structure, Single-cell analysis, chemistry, RNA splicing, medicine, Myocyte, MBNL1, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4b5ca38f75c9c8812059a7bc8fd0630dTest
https://doi.org/10.22541/au.159602544.49698039Test

9

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

المؤلفون: 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

المصدر: 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)

مصطلحات موضوعية: 0301 basic medicine, Bioquímica, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, age of disease onset, Disease onset, lcsh:QH426-470, Long pcr, Heat pulse, CTG expansion size, small pool-PCR, Biology, Genética humana, Myotonic dystrophy, Polymerase Chain Reaction, Myotonin-Protein Kinase, law.invention, long PCR, 03 medical and health sciences, 0302 clinical medicine, law, Genetics, medicine, Humans, Myotonic Dystrophy, Clinical severity, Genetic Testing, Allele, Age of Onset, 3' Untranslated Regions, myotonic dystrophy type 1, Genetics (clinical), Polymerase chain reaction, Brief Report, Reference Standards, medicine.disease, 3. Good health, lcsh:Genetics, 030104 developmental biology, Sample size determination, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce5ec8b1b6e85823aa165e4a9c33853Test
https://pubmed.ncbi.nlm.nih.gov/32645888Test

10

Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype

المؤلفون: 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

المصدر: 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f61c190fcd0ae06fcd171295ac2ab1Test
https://hdl.handle.net/11268/9157Test

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