المؤلفون: Astrid Brull, Apurva Sarathy, Véronique Bolduc, Grace S. Chen, Riley M. McCarty, Carsten G. Bönnemann

المصدر: Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102178- (2024)

مصطلحات موضوعية: MT: Oligonucleotides: Therapies and Applications, siRNA, allele-specific silencing, collagen type VI, dominant negative, missense mutation, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253124000659; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/4ea204394e074f7ea3479995a862c758

المؤلفون: Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake

المصدر: EMBO Molecular Medicine, Vol 13, Iss 12, Pp 1-17 (2021)

مصطلحات موضوعية: BET1, epilepsy, GOSR2, muscular dystrophy, SNARE, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/36e02f0c64b8417881fabf19320857cf

المؤلفون: Sara Aguti, Véronique Bolduc, Pierpaolo Ala, Mark Turmaine, Carsten G. Bönnemann, Francesco Muntoni, Haiyan Zhou

المصدر: Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 205-216 (2020)

مصطلحات موضوعية: Collagen VI, congenital muscular dystrophy, Ullrich muscular dystrophy, deep intronic mutation, exon skipping, antisense oligonucleotide, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253120301554; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/a462e08e730f43559ac48014b92f9fe6

المؤلفون: Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/8783869b7a1b4355a5a49ddec2739631

المؤلفون: María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8

المؤلفون: Carolin D. Freiburg, Herimela Solomon-Degefa, Patrick Freiburg, Matthias Mörgelin, Véronique Bolduc, Sebastian Schmitz, Pierpaolo Ala, Francesco Muntoni, Elmar Behrmann, Carsten G. Bönnemann, Alvise Schiavinato, Mats Paulsson, Raimund Wagener

Relation: https://doi.org/10.1155/2023/6892763

الاتاحة: https://doi.org/10.1155/2023/6892763

المؤلفون: Sara Aguti, Fady Guirguis, Carsten Bönnemann, Francesco Muntoni, Véronique Bolduc, Haiyan Zhou

المصدر: Methods in Molecular Biology ISBN: 9781071627716

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1ad0f90c36ba92b4afa9036370388445
https://doi.org/10.1007/978-1-0716-2772-3_20

المؤلفون: Sara, Aguti, Fady, Guirguis, Carsten, Bönnemann, Francesco, Muntoni, Véronique, Bolduc, Haiyan, Zhou

المصدر: Methods in molecular biology (Clifton, N.J.). 2587

مصطلحات موضوعية: Muscular Dystrophy, Duchenne, Humans, Exons, RNA, Messenger, Collagen Type VI, Oligonucleotides, Antisense

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5029088c379976a1782c681b6d9565bd
https://pubmed.ncbi.nlm.nih.gov/36401040

المؤلفون: Haiyan Zhou, Sara Aguti, Pierpaolo Ala, Francesco Muntoni, Véronique Bolduc, Mark Turmaine, Carsten G. Bönnemann

المصدر: Molecular Therapy: Nucleic Acids, Vol 21, Iss, Pp 205-216 (2020)
Molecular Therapy. Nucleic Acids

مصطلحات موضوعية: 0301 basic medicine, antisense oligonucleotide, extra cellular matrix, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Collagen VI, Ullrich muscular dystrophy, Drug Discovery, deep intronic mutation, Intronic Mutation, medicine, Gene, congenital muscular dystrophy, Oligonucleotide, lcsh:RM1-950, RNA, medicine.disease, Molecular biology, Exon skipping, 030104 developmental biology, lcsh:Therapeutics. Pharmacology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Congenital muscular dystrophy, Molecular Medicine, exon skipping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::532a6858a9ec1a11d9d10897dcc660cd
http://www.sciencedirect.com/science/article/pii/S2162253120301554

المؤلفون: Daniel Ezzo, Livija Medne, Tracy Ogata, Ying Hu, Sandra Donkervoort, Jiani Chen, Richard S. Finkel, Thomas L. Winder, Nathan P. Staff, Dimah Saade, S. Neuhaus, Véronique Bolduc, Manuel Koch, Gihan Tennekoon, P. James B. Dyck, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel, Klaas J. Wierenga, Yaqun Zou, Teerin Liewluck, Charlotte J. Sumner

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Collagen Type XII, Male, Cell Culture Techniques, Neurosciences. Biological psychiatry. Neuropsychiatry, Proof of Concept Study, Dermal fibroblast, 03 medical and health sciences, Exon, 0302 clinical medicine, Exome Sequencing, Missense mutation, Medicine, Humans, Allele, Age of Onset, Precision Medicine, RNA, Small Interfering, RC346-429, Myopathy, Research Articles, Genes, Dominant, business.industry, General Neuroscience, Fibroblasts, Middle Aged, Phenotype, Molecular biology, Pedigree, Distal Myopathies, 030104 developmental biology, Child, Preschool, Female, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, Haploinsufficiency, business, 030217 neurology & neurosurgery, Immunostaining, RC321-571, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::155c116f2a095691f79c343abd8fc201
http://europepmc.org/articles/PMC6801183

المؤلفون: Elena Martín-Hernández, Michio Inoue, Kimberly Y. Lin, Allan M. Glanzman, Janbernd Kirschner, Eleonora Guadagnin, Lynn A. Megeney, David Schorling, Osorio Lopes Abath Neto, Patrick G. Burgon, Aurelio Hernández-Laín, Francisco Martínez-Azorín, Uta Lichter-Konecki, Ichizo Nishino, Gihan Tennekoon, Véronique Bolduc, Ying Hu, Linford Williams, Justin H Berger, John F. Brandsema, Livija Medne, María Elena Rodríguez-García, Konstantinos Kolokotronis, Carsten G. Bönnemann, S. Borell, Francisco Javier Cotrina-Vinagre, Brenda Banwell, A. Reghan Foley, Hirofumi Komaki, Mariarita Santi, Sandra Donkervoort

المصدر: Brain

مصطلحات موضوعية: myalgia, Male, medicine.medical_specialty, Adolescent, Cardiomyopathy, Cellular homeostasis, Rhabdomyolysis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Muscular Diseases, Internal medicine, medicine, Humans, Myopathy, Child, Creatine Kinase, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, Muscle Weakness, hyperCKemia, business.industry, Skeletal muscle, Genetic Variation, Nuclear Proteins, Original Articles, Myalgia, medicine.disease, medicine.anatomical_structure, Endocrinology, Child, Preschool, rhabdomyolysis, MLIP, Female, Neurology (clinical), medicine.symptom, business, cardiomyopathy, Co-Repressor Proteins, 030217 neurology & neurosurgery, Homeostasis, Lamin, myopathy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fef5c2d3849877669948dbd4ea95014
https://pubmed.ncbi.nlm.nih.gov/35915960

المؤلفون: Véronique Bolduc, Yaqun Zou, Dayoung Ko, Carsten G Bönnemann

المصدر: Molecular Therapy: Nucleic Acids, Vol 3, Iss C (2014)

مصطلحات موضوعية: allele-specific siRNA, collagen type VI, dominant negative, Ullrich congenital muscular dystrophy, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253116302876; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/26ccc429f7984cf4af94ba4792058041

المؤلفون: G. Diane Shelton, Rupleen Kaur, Carsten G. Bönnemann, Samantha L. Van Buren, Véronique Bolduc, James R. Mickelson, Joseph C. Glennon, Katia Marioni-Henry, Katie M. Minor, Ying Hu, Ling T. Guo, Steven G. Friedenberg

المصدر: Bolduc, V, Minor, K M, Hu, Y, Kaur, R, Friedenberg, S G, Van Buren, S, Guo, L T, Glennon, J C, Marioni-Henry, K, Mickelson, J R, Bönnemann, C G & Shelton, G D 2020, ' Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs ', Neuromuscular Disorders . https://doi.org/10.1016/j.nmd.2020.03.005
Neuromuscul Disord
Neuromuscular disorders : NMD, vol 30, iss 5

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Myopathy, Medical Physiology, Muscular Dystrophies, Canine, 0302 clinical medicine, Collagen VI, 2.1 Biological and endogenous factors, Joint Contracture, Muscular Dystrophy, Aetiology, Genetics (clinical), Pediatric, Bethlem myopathy, Pedigree, Neurology, Congenital muscular dystrophy, Muscle, Female, medicine.symptom, musculoskeletal diseases, medicine.medical_specialty, Ullrich congenital muscular dystrophy, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Collagen Type VI, Article, 03 medical and health sciences, Rare Diseases, Dogs, medicine, Animals, Neurology & Neurosurgery, Whole Genome Sequencing, business.industry, Neurosciences, medicine.disease, Brain Disorders, 030104 developmental biology, Musculoskeletal, Pediatrics, Perinatology and Child Health, Labrador Retriever, Neurology (clinical), Contracture, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7748580a3e84ca0d7e584f31528344ea
https://hdl.handle.net/20.500.11820/88a17405-d60d-467d-a0d5-a5893725a50f

المؤلفون: Apurva Sarathy, Carsten G. Bönnemann, A. Brull, P. Uapinyoying, Katherine Sizov, K. Johnson, G. Chen, Véronique Bolduc, E. Esposito

المصدر: Neuromuscular Disorders. 31:S162

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51c8eabd9bd36ee46bdc4f5b53ce5621
https://doi.org/10.1016/j.nmd.2021.07.395

المؤلفون: Serena Governali, Jonathan Baets, Sarah Djeddi, Willem De Ridder, Reza Maroofian, Ying Hu, Stephanie Efthymiou, Xavière Lornage, Stefan Conijn, Vincenzo Salpietro, Aritoshi Iida, Satoru Noguchi, Norma B. Romero, Magdalena Mroczek, Carola Hedberg-Oldfors, Tumtip Sangruchi, Julien Fauré, S. Neuhaus, Wojciech Pokrzywa, Ichizo Nishino, Ana Töpf, Kanokwan Boonyapisit, Fabiana Lubieniecki, Edoardo Malfatti, Jantima Tanboon, Chiara Fiorillo, Johann Böhm, Thorsten Hoppe, Véronique Bolduc, Soledad Monges, Niklas Darin, Coen A.C. Ottenheijm, Riley M. McCarty, Volker Straub, Anders Oldfors, Gabriella Di Rosa, A. Reghan Foley, Henry Houlden, John Rendu, Nancy L. Kuntz, Jocelyn Laporte, Carsten G. Bönnemann, Carl Elias Kutzner, Tanya Stojkovic, Katherine R. Chao, Iren Horkayne-Szakaly, Sandra Donkervoort

المساهمون: National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), University of Cologne, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire [Grenoble] (CHU), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Antwerp (UA), Mahidol University [Bangkok], University College of London [London] (UCL), Newcastle University [Newcastle], Amsterdam UMC - Amsterdam University Medical Center, Northwestern University Feinberg School of Medicine, Hospital Nacional de Pediatría J.P. Garrahan, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Hôpital Raymond Poincaré [AP-HP], National Center of Neurology and Psychiatry, University of Gothenburg (GU), National Center of Neurology and Psychiatry [Tokyo, Japan], University of Messina, Università degli studi di Genova = University of Genoa (UniGe), International Institute of Molecular and Cell Biology [Warsaw] (IIMCB), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Arizona, univOAK, Archive ouverte, Physiology, ACS - Pulmonary hypertension & thrombosis

المصدر: The American journal of human genetics
Am J Hum Genet
Donkervoort, S, Kutzner, C E, Hu, Y, Lornage, X, Rendu, J, Stojkovic, T, Baets, J, Neuhaus, S B, Tanboon, J, Maroofian, R, Bolduc, V, Mroczek, M, Conijn, S, Kuntz, N L, Töpf, A, Monges, S, Lubieniecki, F, McCarty, R M, Chao, K R, Governali, S, Böhm, J, Boonyapisit, K, Malfatti, E, Sangruchi, T, Horkayne-Szakaly, I, Hedberg-Oldfors, C, Efthymiou, S, Noguchi, S, Djeddi, S, Iida, A, di Rosa, G, Fiorillo, C, Salpietro, V, Darin, N, Fauré, J, Houlden, H, Oldfors, A, Nishino, I, de Ridder, W, Straub, V, Pokrzywa, W, Laporte, J, Foley, A R, Romero, N B, Ottenheijm, C, Hoppe, T & Bönnemann, C G 2020, ' Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores ', American journal of human genetics, vol. 107, no. 6, pp. 1078-1095 . https://doi.org/10.1016/j.ajhg.2020.11.002
American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (6), pp.1078-1095. ⟨10.1016/j.ajhg.2020.11.002⟩
American journal of human genetics, 107(6), 1078-1095. Cell Press

مصطلحات موضوعية: 0301 basic medicine, Male, muscle, myosin, Sarcomere, Whole Exome Sequencing, 0302 clinical medicine, Myofibrils, Loss of Function Mutation, Myosin, Missense mutation, chaperone, Transgenes, Genetics (clinical), Caenorhabditis elegans, C. elegans, core myopathy, myofibrillar, sarcomere, UNC-45, UNC45B, Adolescent, Adult, Alleles, Animals, Caenorhabditis elegans Proteins, Female, Genetic Variation, Humans, Molecular Chaperones, Muscle, Skeletal, Muscular Diseases, Myosins, Sarcomeres, Sequence Analysis, RNA, Young Adult, Mutation, Missense, biology, Skeletal, Cell biology, Myosin binding, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Sequence Analysis, macromolecular substances, Article, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Myopathy, fungi, biology.organism_classification, 030104 developmental biology, Chaperone (protein), Mutation, biology.protein, RNA, Human medicine, Missense, Myofibril, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467cb4bfba3c31ad18671350dc435ac4
https://repository.uantwerpen.be/docstore/d:irua:4445

المؤلفون: Monkol Lek, Steve D. Wilton, Sandra Donkervoort, Katherine Sizov, Alessandra Ferlini, Matthew Nalls, Carsten G. Bönnemann, Eric Hanssen, Cristina Jou, Haiyan Zhou, C. Gartioux, Herimela Solomon-Degefa, Taru Tukiainen, Oded Regev, Francesco Muntoni, A. Reghan Foley, Shireen R. Lamandé, Yan Li, Beryl B. Cummings, Ying Hu, Grace S. Chen, Jamie L. Marshall, Sara Aguti, Kamel Mamchaoui, Russell J. Butterfield, Cecilia Jimenez-Mallebrera, Véronique Bolduc, Valérie Allamand, Daniel G. MacArthur, Raimund Wagener, Apurva Sarathy, Dina Marek-Yagel, Anna Sarkozy, Francesca Gualandi

المساهمون: National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), University of Cologne, Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Recherche Mathématique de Rennes (IRMAR), AGROCAMPUS OUEST, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA), Cardiac Unit, Institute of Child Health (UCL), University College of London [London] (UCL), Massachusetts General Hospital [Boston], Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York University [New York] (NYU), NYU System (NYU), Chaim Sheba Medical Center, University of Utah School of Medicine [Salt Lake City], Hospital Sant Joan de Déu [Barcelona], Università degli Studi di Ferrara (UniFE), University of Melbourne, Murdoch University, Murdoch Children's Research Institute (MCRI), Centre de recherche en Myologie – U974 SU-INSERM, Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-École normale supérieure - Rennes (ENS Rennes)-Université de Rennes 2 (UR2)-Centre National de la Recherche Scientifique (CNRS)-INSTITUT AGRO Agrocampus Ouest, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Università degli Studi di Ferrara = University of Ferrara (UniFE), ANR-11-LABX-0020,LEBESGUE,Centre de Mathématiques Henri Lebesgue : fondements, interactions, applications et Formation(2011), Gestionnaire, HAL Sorbonne Université 5

المصدر: JCI Insight
JCI Insight, American Society for Clinical Investigation, 2019, 4 (6), ⟨10.1172/jci.insight.124403⟩
JCI Insight, 2019, 4 (6), ⟨10.1172/jci.insight.124403⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Collagens, Extracellular matrix, Muscle Biology, Neuromuscular disease, Therapeutics, RNA Splicing, DNA Mutational Analysis, Gene Expression, Computational biology, Collagen Type VI, Biology, medicine.disease_cause, Muscular Dystrophies, NO, 03 medical and health sciences, Exon, 0302 clinical medicine, Collagen VI, LS2_2, medicine, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], CRISPR, Humans, splice, Genetic Predisposition to Disease, RNA, Messenger, Muscular dystrophy, Skin, Mutation, Base Sequence, Intron, High-Throughput Nucleotide Sequencing, General Medicine, Exons, Genetic Therapy, Fibroblasts, medicine.disease, Introns, 3. Good health, 030104 developmental biology, 030220 oncology & carcinogenesis, RNA splicing, RNA Splice Sites, CRISPR-Cas Systems, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58baff46c74d5cb93feafda52d19dd74
https://hal.sorbonne-universite.fr/hal-03285227/document

المؤلفون: Carsten G. Bönnemann, Ying Hu, A. Reghan Foley, Monkol Lek, Daniel Ezzo, Daniel G. MacArthur, Jamie L. Marshall, Véronique Bolduc, Jahannaz Dastgir, Payam Mohassel, Sandra Donkervoort, Pomi Yun

المصدر: J Neuromuscul Dis

مصطلحات موضوعية: 0301 basic medicine, Adult, RNA Splicing, Muscle Proteins, Biology, Article, 03 medical and health sciences, symbols.namesake, Exon, 0302 clinical medicine, medicine, Humans, splice, RNA, Messenger, Muscular dystrophy, Exome sequencing, Sanger sequencing, Genetics, Calpain, Homozygote, Intron, medicine.disease, 030104 developmental biology, Neurology, Muscular Dystrophies, Limb-Girdle, RNA splicing, Mutation, symbols, Neurology (clinical), 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::725107470bc08c191b1f75922ce35228
https://europepmc.org/articles/PMC7522968/

المؤلفون: Monkol Lek, Steve D. Wilton, Apurva Sarathy, Ying Hu, A.R. Foley, C. Jimenez-Mallebrera, Shireen R. Lamandé, H. Solomon Degefa, Sandra Donkervoort, Haiyan Zhou, Eric Hanssen, Carsten G. Bönnemann, Alessandra Ferlini, Oded Regev, Beryl B. Cummings, Francesco Muntoni, Valérie Allamand, Véronique Bolduc, Raimund Wagener, Daniel G. MacArthur

المصدر: Neuromuscular Disorders. 29:S40-S41

مصطلحات موضوعية: business.industry, medicine.disease, Clinical neurology, Neurology, Collagen VI, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Cancer research, Medicine, splice, Neurology (clinical), Muscular dystrophy, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bb7fd6186cb9642d3c82d7c0a2abb61a
https://doi.org/10.1016/j.nmd.2019.06.028

المؤلفون: Ying Hu, V. Ruiz-Perez, S. Temtamy, Carsten G. Bönnemann, Cynthia Hawkins, E. Fernandez-Nuñez, Pablo Lapunzina, Véronique Bolduc, J. Caparros-Martin, G. Otaify, Katherine R. Chao, Grace Yoon, M. Estañ, M. Zak, Sandra Donkervoort, Dimah Saade, M. Issa, M. Esteban, M. Aglan

المصدر: Neuromuscular Disorders. 29:S119-S120

مصطلحات موضوعية: Genetics, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Biology, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b2a8bee48b8f7a6da2d48f8ecde0cc21
https://doi.org/10.1016/j.nmd.2019.06.297

المؤلفون: Erik-Jan Kamsteeg, Nicol C. Voermans, Tanya Stojkovic, Pascale Richard, Lin Yang, Sandra Donkervoort, Alice B. Schindler, Thomas Cullup, Carsten G. Bönnemann, Valérie Allamand, Robert B. Weiss, Francesco Muntoni, Katherine G. Meilleur, Alix de Becdelièvre, M. Leach, Thomas O. Crawford, Hai Su, Jahannaz Dastgir, Russell J. Butterfield, Véronique Bolduc, A. Reghan Foley, Thomas L. Winder, Ying Hu

المصدر: Human Mutation, 36, 48-56
Human Mutation, 36, 1, pp. 48-56

مصطلحات موضوعية: Adult, Male, Contracture, Adolescent, Ullrich congenital muscular dystrophy, Germline mosaicism, Collagen Type VI, Biology, Muscular Dystrophies, Article, Young Adult, Collagen VI, Genetics, medicine, Humans, Allele, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Child, Genetics (clinical), Aged, Sclerosis, Mosaicism, Genetic heterogeneity, Muscles, Bethlem myopathy, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Penetrance, Pedigree, Mutation, Anticipation (genetics), Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cdca43db7d306aecaa0b9cfba5709f7
https://doi.org/10.1002/humu.22691