المؤلفون: Alexis Ruiz, Sofia Benucci, Urs Duthaler, Christoph Bachmann, Martina Franchini, Faiza Noreen, Laura Pietrangelo, Feliciano Protasi, Susan Treves, Francesco Zorzato

المصدر: eLife, Vol 11 (2022)

مصطلحات موضوعية: ryanodine receptor mutations, congenital myopathy, treatment, muscle function, epigenetic enzymes, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/73718; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/b1a6c6efb1f14c3480eb8053a31a9386

المؤلفون: Yuko Noda, Hirotsugu Miyoshi, Sofia Benucci, Asensio Gonzalez, Oliver Bandschapp, Thierry Girard, Susan Treves, Francesco Zorzato

المساهمون: Noda, Yuko, Miyoshi, Hirotsugu, Benucci, Sofia, Gonzalez, Asensio, Bandschapp, Oliver, Girard, Thierry, Treves, Susan, Zorzato, Francesco

مصطلحات موضوعية: Calcium dysregulation, Diagnosis, Malignant hyperthermia, Mutations, Ryanodine receptor

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37996280; info:eu-repo/semantics/altIdentifier/wos/WOS:001136853500001; volume:33; issue:12; firstpage:951; lastpage:963; numberofpages:13; journal:NEUROMUSCULAR DISORDERS; https://hdl.handle.net/11392/2577050; https://www.sciencedirect.com/science/article/pii/S0960896623007721

الاتاحة: https://hdl.handle.net/11392/2577050
https://doi.org/10.1016/j.nmd.2023.10.019
https://www.sciencedirect.com/science/article/pii/S0960896623007721

المؤلفون: Alexis Ruiz, Sofia Benucci, Urs Duthaler, Christoph Bachmann, Martina Franchini, Faiza Noreen, Laura Pietrangelo, Feliciano Protasi, Susan Treves, Francesco Zorzato

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ea2e68c1555f8de9d0d301a9e2fb816d
https://doi.org/10.7554/elife.73718.sa2

المؤلفون: Feliciano Protasi, Christoph Bachmann, Susan Treves, Urs Duthaler, Faiza Noreen, Martina Franchini, Sofia Benucci, Alexis Ruiz, Laura Pietrangelo, Francesco Zorzato

مصطلحات موضوعية: RYR1, biology, business.industry, Muscle weakness, Muscle disorder, musculoskeletal system, medicine.disease, Compound heterozygosity, Congenital myopathy, Histone, medicine, biology.protein, Cancer research, Epigenetics, medicine.symptom, business, tissues, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eb1894f224d9a72e8fbfbf93340e073a
https://doi.org/10.1101/2021.11.09.467894

المؤلفون: Alexis, Ruiz, Sofia, Benucci, Urs, Duthaler, Christoph, Bachmann, Martina, Franchini, Faiza, Noreen, Laura, Pietrangelo, Feliciano, Protasi, Susan, Treves, Francesco, Zorzato

المصدر: eLife. 11

مصطلحات موضوعية: Myotonia Congenita, Ryanodine Receptor Calcium Release Channel, DNA, Methyltransferases, Histone Deacetylases, Disease Models, Animal, Mice, Muscular Diseases, Mutation, Quality of Life, Animals, Humans, Muscle Strength, Muscle, Skeletal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3ede2532479e8d29b650c6ad8f840b91
https://pubmed.ncbi.nlm.nih.gov/35238775

المؤلفون: Susan Treves, Sven Nicolay, Pawel Pelczar, Moran Elbaz, Alexis Ruiz, Chiara Tupini, Francesco Zorzato, Jan Eckhardt, Christoph Bachmann, Sofia Benucci

المصدر: J Biol Chem

مصطلحات موضوعية: 0301 basic medicine, Male, Mutation, Missense, Biology, Compound heterozygosity, Biochemistry, calcium release channel, NO, 03 medical and health sciences, Mice, slow-twitch muscles, LS4_1, medicine, Missense mutation, Animals, Muscle Strength, Allele, Centronuclear myopathy, LS7_6, Molecular Biology, ryanodine receptor (RyR), mutations, slow-twitch muscles, monoallelic versus bi-allelic, muscle strength, myopathy, skeletal muscle disease, calcium release channel, multiminicore disease (MmD), RYR1, multiminicore disease (MmD), skeletal muscle disease, 030102 biochemistry & molecular biology, Molecular Bases of Disease, Ryanodine Receptor Calcium Release Channel, Cell Biology, Congenital fiber type disproportion, ryanodine receptor (RyR), mutations, medicine.disease, musculoskeletal system, Molecular biology, monoallelic versus bi-allelic, Mice, Mutant Strains, 030104 developmental biology, Muscle Fibers, Slow-Twitch, Amino Acid Substitution, Gene Expression Regulation, Mutation (genetic algorithm), Central core disease, myopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6603a5984fc35de0e2e7e7b170439eec
https://europepmc.org/articles/PMC7383393/

المؤلفون: Francesco Zorzato, Jan Eckhardt, Moran Elbaz, Alexis Ruiz, Christoph Bachmann, Susan Treves, Sofia Benucci

مصطلحات موضوعية: Heterozygote, Myotonia Congenita, Mutant, chemistry.chemical_element, Skeletal muscle, Calcium, Biology, Compound heterozygosity, medicine.disease_cause, Extraocular muscles, NO, 03 medical and health sciences, Mice, 0302 clinical medicine, animal disease models, Mice, Ryanodine Receptor Calcium Release Channel, Muscle Weakness, Mutation, Myosin Heavy Chains, Myotonia Congenita, Oculomotor Muscles, Phenotype, Heterozygote, Skeletal muscle, animal disease models, Myosin, Genetics, medicine, Animals, Humans, Muscle, Skeletal, Molecular Biology, Genetics (clinical), 030304 developmental biology, RYR1, 0303 health sciences, Mutation, Muscle Weakness, Myosin Heavy Chains, Ryanodine Receptor Calcium Release Channel, General Medicine, medicine.disease, Congenital myopathy, Molecular biology, Disease Models, Animal, medicine.anatomical_structure, Phenotype, chemistry, Oculomotor Muscles, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60299c111426a91fe47b3239c08f23f4
https://hdl.handle.net/11392/2497173