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1دورية أكاديمية
المصدر: RNA Biology, Vol 20, Iss 1, Pp 693-702 (2023)
مصطلحات موضوعية: duchenne muscular dystrophy, dystrophin, dmd, antisense oligonucleotides, exon skipping, aon, aso, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Flavien Bizot, Remko Goossens, Thomas Tensorer, Sergei Dmitriev, Luis Garcia, Annemieke Aartsma-Rus, Pietro Spitali, Aurélie Goyenvalle
المصدر: Molecular Therapy: Nucleic Acids, Vol 30, Iss , Pp 606-620 (2022)
مصطلحات موضوعية: MT: antisense oligonucleotides, exon skipping, RNA, transcript imbalance, histone deacetylase inhibitors, Duchenne muscular dystrophy, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253122003092Test; https://doaj.org/toc/2162-2531Test
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3دورية أكاديمية
المؤلفون: Remko Goossens, Mara S. Tihaya, Anita van den Heuvel, Klorane Tabot-Ndip, Iris M. Willemsen, Stephen J. Tapscott, Román González-Prieto, Jer-Gung Chang, Alfred C. O. Vertegaal, Judit Balog, Silvère M. van der Maarel
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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المؤلفون: Remko Goossens, Annemieke Aartsma-Rus
المصدر: Methods Mol Biol
Methods in Molecular Biology ISBN: 9781071620090مصطلحات موضوعية: Dystrophin, Muscular Dystrophy, Duchenne, Myoblasts, Electroporation, Humans, Genetic Therapy, Morpholinos, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a7cf094fa98b79ec742be193872a8aTest
https://pubmed.ncbi.nlm.nih.gov/35213018Test -
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المصدر: Clinical Genetics, 97, 6, pp. 799-814
Clinical Genetics, 97(6), 799-814. WILEY
Clinical Genetics
Clinical Genetics, 97, 799-814مصطلحات موضوعية: muscular dystrophy, musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, DUX4, 030105 genetics & heredity, Biology, Epigenesis, Genetic, 03 medical and health sciences, Atrophy, genetic diseases, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Genetic Predisposition to Disease, Invited Reviews, Epigenetics, Muscle, Skeletal, Myopathy, Genetics (clinical), Homeodomain Proteins, Invited Review, SMCHD1, Skeletal muscle, facioscapulohumeral, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Phenotype, Muscular Dystrophy, Facioscapulohumeral, Chromatin, 030104 developmental biology, medicine.anatomical_structure, Mutation, inborn, Chromosomes, Human, Pair 4, immune deregulation, medicine.symptom
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ae419553a03bf60a64f9179f9d6055cTest
https://doi.org/10.1111/cge.13726Test -
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المؤلفون: Rabi Tawil, Richard J.L.F. Lemmers, Iris M Willemsen, Marlinde L. van den Boogaard, Ignazio Maggio, Nienke van der Stoep, Manuel A F V Gonçalves, Niels Geijsen, Patrick J. van der Vliet, Judit Balog, Stephen J. Tapscott, Rob C. Hoeben, Julie Schouten, Remko Goossens, Sabrina Sacconi, Silvère M. van der Maarel
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Journal of Medical Genetics, 56(12), 828-837. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 56(12), 828-837. BMJ Publishing Group
Journal of Medical Genetics, 56(12), 828. BMJ Publishing Groupمصطلحات موضوعية: Genetics, Sanger sequencing, SMCHD1, Facioscapulohumeral, DUX4, intronic variant, Intron, Biology, symbols.namesake, Chromosome 4, Genome editing, CRISPR-Associated Protein 9, Intronic Mutation, symbols, CRISPR, Genetics(clinical), Muscular Dystrophy, Genetics (clinical), Exome sequencing
وصف الملف: image/pdf; text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7193d56af79b10f7fc6956fd97551f15Test
https://doi.org/10.1136/jmedgenet-2019-106402Test -
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المؤلفون: Hiroki Masuda, Kazumoto Shibuya, Kohei Hamanaka, Remko Goossens, Yukiko K. Hayashi, Richard J.L.F. Lemmers, Megumu Ogawa, Satoshi Kuwabara, Satoru Noguchi, Ichizo Nishino, Silvère M. van der Maarel, Yukari Sekiguchi, Judit Balog, Satomi Mitsuhashi, Koji Nagao, Chikashi Obuse, Darina Šikrová, Atsuhiko Sugiyama
المصدر: Neurology, 94(23), E2441-E2447. LIPPINCOTT WILLIAMS & WILKINS
مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Gene knockdown, congenital, hereditary, and neonatal diseases and abnormalities, Muscle biopsy, medicine.diagnostic_test, Skeletal muscle, Biology, medicine.disease, Chromatin, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, DUX4, medicine, Cancer research, Facioscapulohumeral muscular dystrophy, Myocyte, Neurology (clinical), Epigenetics, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30f38de8a2e303848729ae2152225da3Test
https://doi.org/10.1212/wnl.0000000000009617Test -
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المؤلفون: Silvère M. Maarel, Baziel G.M. van Engelen, Anna Greco, Remko Goossens
مصطلحات موضوعية: Genetics, business.industry, Medicine, Facioscapulohumeral muscular dystrophy, Epigenetics, business, medicine.disease, Psychological repression
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::99645cb6e358b0cb18dec2be1be1eab4Test
https://doi.org/10.1111/cge.13726/v2/response1Test -
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المؤلفون: Kohei, Hamanaka, Darina, Šikrová, Satomi, Mitsuhashi, Hiroki, Masuda, Yukari, Sekiguchi, Atsuhiko, Sugiyama, Kazumoto, Shibuya, Richard J L F, Lemmers, Remko, Goossens, Megumu, Ogawa, Koji, Nagao, Chikashi, Obuse, Satoru, Noguchi, Yukiko K, Hayashi, Satoshi, Kuwabara, Judit, Balog, Ichizo, Nishino, Silvère M, van der Maarel
المصدر: Neurology. 94(23)
مصطلحات موضوعية: Homeodomain Proteins, Male, Chromosomal Proteins, Non-Histone, Biopsy, Homozygote, Muscle Fibers, Skeletal, Cell Cycle Proteins, Fibroblasts, Middle Aged, Chromatin, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Consanguinity, Gene Expression Regulation, Codon, Nonsense, Gene Duplication, Humans, Protein Isoforms, Chromosomes, Human, Pair 4, Frameshift Mutation, Muscle, Skeletal, Cells, Cultured, Repetitive Sequences, Nucleic Acid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::424887ef59a55280f010388af952f0a4Test
https://pubmed.ncbi.nlm.nih.gov/32467132Test