المؤلفون: Rita J. Serrano, Clara Lee, Alon M. Douek, Jan Kaslin, Robert J. Bryson-Richardson, Tamar E. Sztal

المصدر: Disease Models & Mechanisms, Vol 15, Iss 3 (2022)

مصطلحات موضوعية: cdkl5 deficiency disorder, motor neurons, seizure, locomotion, microcephaly, zebrafish, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/15/3/dmm049094; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/350b55da664c4c53a07704acd77dfab0

المؤلفون: Jessica R. Terrill, Corinne Huchet, Caroline Le Guiner, Aude Lafoux, Dorian Caudal, Ankita Tulangekar, Robert J. Bryson-Richardson, Tamar E. Sztal, Miranda D. Grounds, Peter G. Arthur

المصدر: Metabolites, Vol 13, Iss 2, p 232 (2023)

مصطلحات موضوعية: duchenne muscular dystrophy, DMDmdx rat, dmd zebrafish, taurine, therapies for DMD, animal models for DMD, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/13/2/232; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/73f0d61bc9a144188eaf04e1413481af

المؤلفون: Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm, Robert J. Bryson-Richardson

المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Nebulin, Nemaline myopathy, Zebrafish, Treatment, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0546-9; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/8cc6ba4097cf4c9bb514e650b9af4952

المؤلفون: Ankita Tulangekar, Tamar E. Sztal

المصدر: Biomedicines, Vol 9, Iss 10, p 1366 (2021)

مصطلحات موضوعية: Duchenne muscular dystrophy, DMD, inflammation, neutrophils, myeloperoxidase, neutrophil elastase, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/9/10/1366; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/2d382837d42a4b16bff00c2476329c47

المؤلفون: Tamar E Sztal, Emily A McKaige, Caitlin Williams, Avnika A Ruparelia, Robert J Bryson-Richardson

المصدر: PLoS Genetics, Vol 14, Iss 2, p e1007212 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5821405?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/7482877a30ad48aaa88dee76507bfac6

المؤلفون: Tamar E. Sztal, Ankita Tulangekar

المصدر: Biomedicines
Biomedicines, Vol 9, Iss 1366, p 1366 (2021)

مصطلحات موضوعية: musculoskeletal diseases, Duchenne muscular dystrophy, congenital, hereditary, and neonatal diseases and abnormalities, QH301-705.5, Medicine (miscellaneous), Inflammation, Review, General Biochemistry, Genetics and Molecular Biology, Immune system, neutrophils, DMD, Medicine, Biology (General), Innate immune system, biology, business.industry, Regeneration (biology), medicine.disease, myeloperoxidase, inflammation, Myeloperoxidase, Neutrophil elastase, Immunology, biology.protein, medicine.symptom, business, Dystrophin, neutrophil elastase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7083701d6d6323ca32fbe67ccbc084
http://europepmc.org/articles/PMC8533596

المؤلفون: Rita J. Serrano, Clara Lee, Alon M. Douek, Jan Kaslin, Robert J. Bryson-Richardson, Tamar E. Sztal

المصدر: Disease modelsmechanisms. 15(3)

مصطلحات موضوعية: Immunology and Microbiology (miscellaneous), Neuroscience (miscellaneous), Quality of Life, Medicine (miscellaneous), Animals, Humans, Neurodegenerative Diseases, Protein Serine-Threonine Kinases, Epileptic Syndromes, Spasms, Infantile, General Biochemistry, Genetics and Molecular Biology, Zebrafish

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1d224d9eb1ddc34bf02c34cdee92abb
https://pubmed.ncbi.nlm.nih.gov/34913468

المؤلفون: Tamar E. Sztal, Robert J. Bryson-Richardson, Lee C, Serrano Rj

مصطلحات موضوعية: Microcephaly, biology, business.industry, Nonsense mutation, CDKL5, Disease, medicine.disease, Bioinformatics, biology.organism_classification, Muscle tone, medicine.anatomical_structure, Intellectual disability, medicine, business, Zebrafish, Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7875c7f5a12465eb90e70b2a8e5834a8
https://doi.org/10.1101/2021.04.07.438335

المؤلفون: Leonardo Nogara, Saskia Lassche, Jonne Doorduin, Norma B. Romero, Benno Küsters, Tamar E. Sztal, Baziel G.M. van Engelen, Balázs Kiss, Stefan Conijn, Josine M. de Winter, Coen A.C. Ottenheijm, Weikang Ma, Georg Ramm, Viola Oorschot, Joery P. Molenaar, Shengyi Shen, Christopher N. Johnson, Richard J. Rodenburg, Bert Blaauw, Robbert van der Pijl, Henk Granzier, Thomas E. Hall, Ken Campbell, Frank Li, Thomas C. Irving, Alan H. Beggs, Michaela Yuen, Reinier A. Boon, Manuela Marabita, Menne van Willigenburg, Esmee S.B. Van Kleef, Noelia Lozano-Vidal, Sylvia J. P. Bogaards, Robert J. Bryson-Richardson, Avnika A. Ruparelia, Dilson E. Rassier, Martijn van de Locht, Edoardo Malfatti, Malin Persson, Zherui Xiong, Nicol C. Voermans

المساهمون: Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), VIDI 016.126.319 645648, H2020-MSCA-RISE-2014 W.OR17-08 National Institutes of Health, NIH: R01 HD075802 U.S. Department of Energy, USDOE National Institute of General Medical Sciences, NIGMS: 1S10OD018090-01 National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIAMS: HL133359, R01 AR053897 National Institute of Child Health and Human Development, NICHD Muscular Dystrophy Association, MDA: MDA602235 Office of Science, SC Argonne National Laboratory, ANL: 9 P41 GM103622 Advanced Photon Sciences, APS: DE-AC02-06CH11357 National Health and Medical Research Council, NHMRC: APP1121651 Vetenskapsrådet, VR: 2015-00385, This work was supported by the Dutch Foundation for Scientific Research (VIDI 016.126.319 to CACO), the Princess Beatrix Muscle Foundation (W.OR17-08 to CACO, NCV, and BGMVE), H2020-MSCA-RISE-2014 (645648 Muscle Stress Relief to CACO), the Advanced Photon Source (DE-AC02-06CH11357), A Foundation Building Strength for Nemaline Myopathy (to CACO), the National Health and Medical Research Council (NHMRC) Early Career Fellowship (APP1121651 to MY), the National Institute of Child Health and Human Development (NIH R01 HD075802 to AHB), the Muscular Dystrophy Association (USA) (MDA602235 to AHB), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIH R01 AR053897 to HG), the NIH (HL133359 to KC). This research used resources of the Advanced Photon Source, a U.S. Department of Energy (DOE) Office of Science User Facility operated for the DOE Office of Science by Argonne National Laboratory under contract no. DE-AC02-06CH11357. This project was supported by grant 9 P41 GM103622 from the National Institute of General Medical Sciences of the NIH. Use of the Pilatus 3 1M detector was provided by grant 1S10OD018090-01 from the National Institute of General Medical Sciences. The content is solely the responsibility of the authors and does not necessarily reflect the official views of the National Institute of General Medical Sciences or the NIH. MP was funded by a postdoctoral grant from the Swedish Research Council (2015-00385)., Physiology, ACS - Pulmonary hypertension & thrombosis, ACS - Microcirculation, ACS - Atherosclerosis & ischemic syndromes, ACS - Heart failure & arrhythmias, Academic Medical Center

المصدر: Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (2), pp.754-767. ⟨10.1172/JCI124000⟩
Journal of Clinical Investigation, 130, 2, pp. 754-767
J Clin Invest
Journal of Clinical Investigation, 130(2), 754-767. The American Society for Clinical Investigation
de Winter, J M, Molenaar, J P, Yuen, M, van der Pijl, R, Shen, S, Conijn, S, van de Locht, M, Willigenburg, M, Bogaards, S J P, van Kleef, E S, Lassche, S, Persson, M, Rassier, D E, Sztal, T E, Ruparelia, A A, Oorschot, V, Ramm, G, Hall, T E, Xiong, Z, Johnson, C N, Li, F, Kiss, B, Lozano-Vidal, N, Boon, R A, Marabita, M, Nogara, L, Blaauw, B, Rodenburg, R J, Küsters, B, Doorduin, J, Beggs, A H, Granzier, H, Campbell, K, Ma, W, Irving, T, Malfatti, E, Romero, N B, Bryson-Richardson, R J, van Engelen, B G M, Voermans, N C & Ottenheijm, C A C 2020, ' KBTBD13 is an actin-binding protein that modulates muscle kinetics ', Journal of Clinical Investigation, vol. 130, no. 2, pp. 754-767 . https://doi.org/10.1172/JCI124000
Journal of clinical investigation, 130(2), 754-767. The American Society for Clinical Investigation
Journal of Clinical Investigation, 130, 754-767

مصطلحات موضوعية: 0301 basic medicine, Sarcomeres, Muscle Relaxation, [SDV]Life Sciences [q-bio], Kinetics, Muscle Proteins, Skeletal muscle, Myopathies, Nemaline, Contractility, 03 medical and health sciences, Mice, 0302 clinical medicine, Nemaline myopathy, All institutes and research themes of the Radboud University Medical Center, medicine, Animals, Humans, Actin-binding protein, Actin, Zebrafish, Mice, Knockout, biology, Relaxation (psychology), Chemistry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Zebrafish Proteins, Neuromuscular disease, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 030104 developmental biology, medicine.anatomical_structure, Muscle relaxation, 030220 oncology & carcinogenesis, Biophysics, biology.protein, Commentary, Genetic diseases, Muscle Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8814b2daabcdfb84373f75468712d908
http://hdl.handle.net/11577/3321703

المؤلفون: Bang V. Bui, Patricia R. Jusuf, Patrick T. Goodbourn, Tamar E. Sztal, Jiaheng Xie

المصدر: Investigative ophthalmologyvisual science. 60(14)

مصطلحات موضوعية: 0301 basic medicine, genetic structures, Inhibitory postsynaptic potential, Retina, Animals, Genetically Modified, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Anti-Infective Agents, Metronidazole, medicine, Electroretinography, Animals, Zebrafish, Vision, Ocular, Motor Neurons, biology, medicine.diagnostic_test, Behavior, Animal, fungi, Retinal, Nitroreductases, Inner plexiform layer, biology.organism_classification, 030104 developmental biology, medicine.anatomical_structure, chemistry, Larva, Optomotor response, sense organs, Erg, Neuroscience, 030217 neurology & neurosurgery, Photic Stimulation, Signal Transduction, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ea5d18be5bab056a585350819474b3
https://pubmed.ncbi.nlm.nih.gov/31725167

المؤلفون: Nicholas J. Cole, Ophelia V. Ehrlich, Thomas E. Hall, Inken G. Huttner, Tamar E. Sztal, Mei Li, Carmen Sonntag, A.J. Wood, Peter D. Currie

المصدر: NPJ Regenerative Medicine
npj Regenerative Medicine, Vol 4, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: 0301 basic medicine, Programmed cell death, Cell type, Cell, Biomedical Engineering, Medicine (miscellaneous), lcsh:Medicine, Diseases, Article, 03 medical and health sciences, 0302 clinical medicine, Laminin, medicine, Genetics, Myocyte, Zebrafish, biology, lcsh:R, Skeletal muscle, Cell Biology, biology.organism_classification, medicine.disease, Cell biology, 030104 developmental biology, medicine.anatomical_structure, biology.protein, Congenital muscular dystrophy, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b48bbf62cdfeb8e5901ea0b36c33873e
http://europepmc.org/articles/PMC6858319

المؤلفون: Bang V. Bui, Jiaheng Xie, Tamar E. Sztal, Patrick T. Goodbourn, Stefanie Dudczig, Patricia R. Jusuf

المصدر: Investigative Ophthalmology & Visual Science

مصطلحات موضوعية: 0301 basic medicine, Serotonin, Genotyping Techniques, genetic structures, Vision Disorders, PDZ Domains, Real-Time Polymerase Chain Reaction, Receptors, Corticotropin-Releasing Hormone, Receptors, N-Methyl-D-Aspartate, visual phenotyping, Retina, Contrast Sensitivity, Gene Knockout Techniques, 03 medical and health sciences, optomotor response (OMR), 0302 clinical medicine, CRISPR-Associated Protein 9, Electroretinography, medicine, Animals, Zebrafish, biology, medicine.diagnostic_test, neurodevelopmental disorders, electroretinogram (ERG), Zebrafish Proteins, zebrafish, biology.organism_classification, Inner plexiform layer, 030104 developmental biology, medicine.anatomical_structure, Larva, Endophenotype, PDZK1, Optomotor response, Visual Neuroscience, Erg, Neuroscience, Postsynaptic density, Psychomotor Performance, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d644edc91bc7d182eb072de14bd812d1
https://doi.org/10.1167/iovs.62.3.29

المؤلفون: Jason Somers, Ying Ting Yang, Trent Perry, Danielle Christesen, Tamar E. Sztal, Phillip Batterham, Charles Robin

المصدر: G3: Genes, Genomes, Genetics, Vol 7, Iss 2, Pp 467-479 (2017)
G3: Genes|Genomes|Genetics

مصطلحات موضوعية: 0301 basic medicine, Ecdysone, Investigations, QH426-470, Biology, Halloween genes, immune response, Transcriptome, 03 medical and health sciences, chemistry.chemical_compound, Cytochrome P-450 Enzyme System, ecdysteroidogenesis, Genetics, Melanogaster, Animals, Drosophila Proteins, Molecular Biology, Genetics (clinical), molting, Fatty Acids, fungi, Gene Expression Regulation, Developmental, Prothoracic gland, biology.organism_classification, Immunity, Innate, Drosophila melanogaster, 030104 developmental biology, chemistry, Larva, cytochrome p450, RNA Interference, Corpus allatum, Oxidation-Reduction, Drosophila Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7103e788c9cd393871ae5a49417a95b8
https://doi.org/10.1534/g3.116.037333

المؤلفون: Augustin C. Ogier, Dorothee Hahne, David Bendahan, Nigel G. Laing, Christophe Vilmen, Elyshia McNamara, Julien Gondin, Charlotte Gineste, Kristen J. Nowak, Robert J. Bryson-Richardson, Adriana M. Messineo, Tamar E. Sztal

المساهمون: Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Australian Regenerative Medicine Institute, Monash University, Clayton, 3800, VIC, Australia, Centre for Medical Research, The University of Western Australia (UWA)-Western Australian Institute for Medical Research

المصدر: Scientific Reports
Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-29437-z⟩
Scientific Reports, Nature Publishing Group, 2018, 8 (1), ⟨10.1038/s41598-018-29437-z⟩
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Energy metabolism, lcsh:Medicine, Myopathies, Nemaline, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Nemaline myopathy, Atrophy, Internal medicine, medicine, Animals, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Tyrosine, lcsh:Science, Muscle, Skeletal, Zebrafish, ComputingMilieux_MISCELLANEOUS, Multidisciplinary, biology, business.industry, lcsh:R, Wild type, Skeletal muscle, medicine.disease, biology.organism_classification, Actins, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Toxicity, Dietary Supplements, Mutation, lcsh:Q, Female, business, Energy Metabolism, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76981e1e2f01e900abde41d58f54b9f0
https://hal.science/hal-02425848

المؤلفون: Caitlin Williams, Tamar E. Sztal, Emily A. McKaige, Avnika A. Ruparelia, Robert J. Bryson-Richardson

المصدر: PLoS Genetics, Vol 14, Iss 2, p e1007212 (2018)
PLoS Genetics

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Embryology, Embryo, Nonmammalian, Morpholino, Mutant, Oligonucleotides, Penetrance, medicine.disease_cause, Myopathies, Nemaline, Biochemistry, Animals, Genetically Modified, 0302 clinical medicine, Nemaline myopathy, RNA interference, Untranslated Regions, Medicine and Health Sciences, Protein Isoforms, Zebrafish, Musculoskeletal System, Antisense Oligonucleotides, Genetics (clinical), Mutation, Nucleotides, Muscles, Messenger RNA, Gene Expression Regulation, Developmental, Eukaryota, Animal Models, Phenotype, Cell biology, Nucleic acids, Phenotypes, Experimental Organism Systems, Genetic interference, Osteichthyes, Gene Knockdown Techniques, Vertebrates, Epigenetics, Anatomy, Research Article, lcsh:QH426-470, Biology, Research and Analysis Methods, 03 medical and health sciences, Model Organisms, Dosage Compensation, Genetic, medicine, Genetics, Animals, Muscle, Skeletal, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Loss function, Actin, Embryos, Organisms, Biology and Life Sciences, medicine.disease, biology.organism_classification, Actins, lcsh:Genetics, 030104 developmental biology, Fish, Skeletal Muscles, Genetics of Disease, RNA, Gene expression, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb96ff9ddf40be9efd24ba2f9cb6f527
http://europepmc.org/articles/PMC5821405?pdf=render

المؤلفون: Charlotte Gineste, Kristen J. Nowak, Tamar E. Sztal, Elyshia McNamara, David Bendahan, Julien Gondin, Robert J. Bryson-Richardson, Nigel G. Laing, Dorothee Hahne, Christophe Vilmen, Augustin C. Ogier, Adriana M. Messineo

مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Wild type, Skeletal muscle, Biology, medicine.disease, biology.organism_classification, Significant elevation, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Atrophy, Endocrinology, medicine.anatomical_structure, Internal medicine, medicine, Skeletal muscle disorder, Tyrosine, Zebrafish, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42dd8d7375c5a9fcf0471b362b8c3030
https://doi.org/10.1101/218016

المؤلفون: Philip J. Batterham, Robert T. Good, Tamar E. Sztal, Charles Robin, Lydia Gramzow, Paul Battlay

المصدر: Genome Biology and Evolution

مصطلحات موضوعية: cytochrome P450, Genome, Insect, Molecular Sequence Data, Gene Dosage, Cyp6a20, Cyp12a4, Gene dosage, Drosophila sechellia, Evolution, Molecular, Cytochrome P-450 Enzyme System, Molecular evolution, Gene duplication, Genetics, Animals, Drosophila Proteins, Gene family, Copy-number variation, Homologous Recombination, Gene, Phylogeny, Ecology, Evolution, Behavior and Systematics, Polymorphism, Genetic, Base Sequence, Models, Genetic, biology, Drosophila Genetic Reference Panel, phantom, biology.organism_classification, Adaptation, Physiological, Amino Acid Substitution, Multigene Family, Drosophila, nonallelic homologous recombination, Gene Deletion, Drosophila Protein, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::481edf95d104435e134b657dfa2f0558
https://doi.org/10.1093/gbe/evu083

المؤلفون: Peter D. Currie, Robert J. Bryson-Richardson, Tamar E. Sztal

المصدر: Methods in Molecular Biology ISBN: 9781493972821

مصطلحات موضوعية: 0301 basic medicine, animal structures, biology, fungi, Skeletal muscle, Embryo, Model system, In situ hybridization, biology.organism_classification, Cell biology, 03 medical and health sciences, Muscle morphology, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Rna expression, embryonic structures, Gene expression, medicine, Zebrafish, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::60342d05252ea8270c7707faae17a907
https://doi.org/10.1007/978-1-4939-7283-8_3

المؤلفون: Caitlin Williams, Tamar E. Sztal, Robert J. Bryson-Richardson, Avnika A. Ruparelia

المصدر: Journal of Visualized Experiments : JoVE

مصطلحات موضوعية: 0301 basic medicine, Contraction (grammar), animal structures, muscle, General Chemical Engineering, Escape response, Stimulus (physiology), Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Accelerometry, Issue 116, medicine, Animals, swimming, Myopathy, Muscle, Skeletal, Zebrafish, touch-evoke, General Immunology and Microbiology, General Neuroscience, Embryogenesis, fungi, Skeletal muscle, biology.organism_classification, zebrafish, locomotion, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Touch, Muscle Fibers, Fast-Twitch, medicine.symptom, movement, Neuroscience, 030217 neurology & neurosurgery, Muscle contraction, Developmental Biology, myopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::545928ec123f3ab994334be84eb77b4a
https://pubmed.ncbi.nlm.nih.gov/27842370

المؤلفون: Tanya Stojkovic, Haluk Topaloglu, Robert J. Bryson-Richardson, Thierry Maisonobe, Ying Hu, Gina L. O'Grady, Roger Bryan Sutton, Myriam Sanjuan-Vazquez, D. Ardicli, Avnika A. Ruparelia, Sandra T. Cooper, Nigel F. Clarke, Monkol Lek, Beryl B. Cummings, Vanessa Schartner, Himanshu Joshi, Georg Ramm, Osorio Abath Neto, Taru Tukiainen, Sandra Donkervoort, Anthony Peduto, Juliette Nectoux, Norma B. Romero, Jean-François Deleuze, Viola Oorschot Ing, Beril Talim, Biljana Ilkovski, Stephen W. Reddel, Sylvie Friant, Carsten G. Bönnemann, Susan Brammah, Daniel G. MacArthur, Heather A. Best, Jahannaz Dastgir, Kristen J. Nowak, Tamar E. Sztal, Kathryn N. North, Anne Boland, Nigel G. Laing, Leigh B. Waddell, Jocelyn Laporte, Caitlin Williams

المساهمون: Çocuk Sağlığı ve Hastalıkları, The University of Sydney, 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), Génétique moléculaire, génomique, microbiologie (GMGM), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩
American Journal of Human Genetics, 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Cytoplasm, Protein Conformation, ELAV-Like Protein 4, Reductase, Cohort Studies, 0302 clinical medicine, Nemaline myopathy, Chlorocebus aethiops, Zebrafish, Creatine Kinase, Genetics (clinical), Genetics & Heredity, 3. Good health, Cell biology, Pedigree, medicine.anatomical_structure, Glutathione Reductase, Biochemistry, COS Cells, Distal Myopathies, Female, medicine.symptom, Oxidoreductases, Myopathies, Structural, Congenital, Saccharomyces cerevisiae Proteins, Mutation, Missense, Biology, Article, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Myopathy, Muscle, Skeletal, Cell Nucleus, [SDV.GEN]Life Sciences [q-bio]/Genetics, Flavoproteins, Skeletal muscle, Genetic Variation, medicine.disease, biology.organism_classification, Cell nucleus, 030104 developmental biology, HEK293 Cells, Myofibril, 030217 neurology & neurosurgery, Gene Deletion, Genome-Wide Association Study

وصف الملف: text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ccb284e53b3c5dc26599669a1bea27e
https://pubmed.ncbi.nlm.nih.gov/27745833