المؤلفون: Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)

مصطلحات موضوعية: Nebulin, Murine model, Nemaline myopathy, Skeletal muscle, Neuromuscular disease, Congenital myopathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-020-0893-1; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/091348b090194a35b6fa183d1b10a74b

المؤلفون: Jessica R Terrill, Basma A Al-Mshhdani, Marisa N Duong, Catherine D Wingate, Zahra Abbas, Angelo P Baustista, Amanda K Bettis, Cynthia J Balog-Alvarez, Joe N Kornegay, Peter P Nghiem, Miranda D Grounds, Peter G Arthur

المصدر: PLoS ONE, Vol 15, Iss 10, p e0240317 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/eae05b71b57444cfbe0f2f0026f1357c

المؤلفون: Peter G. Arthur, Miranda D. Grounds, Peter P. Nghiem, Basma A. Al-Mshhdani, Catherine D. Wingate, Jessica R. Terrill, Marisa N. Duong, Joe N. Kornegay, Amanda K. Bettis, Zahra Abbas, Angelo P. Baustista, Cynthia J. Balog-Alvarez

المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 10, p e0240317 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, mdx mouse, Necrosis, Physiology, Neutrophils, Duchenne muscular dystrophy, Muscle Proteins, Urine, medicine.disease_cause, Protein oxidation, Biochemistry, Protein Carbonylation, White Blood Cells, Mice, 0302 clinical medicine, Aromatic Amino Acids, Animal Cells, Medicine and Health Sciences, Amino Acids, Creatine Kinase, Mammals, Multidisciplinary, biology, Chemistry, Organic Compounds, Eukaryota, Body Fluids, Blood, Hydrazines, Myeloperoxidase, Vertebrates, Physical Sciences, Medicine, Female, medicine.symptom, Anatomy, Cellular Types, Research Article, medicine.medical_specialty, Science, Immune Cells, Immunology, Inflammation, Blood Plasma, Antibodies, 03 medical and health sciences, Dogs, Internal medicine, Albumins, Hydroxyl Amino Acids, medicine, Animals, Muscle, Skeletal, Peroxidase, Blood Cells, Plasma Proteins, Organic Chemistry, Organisms, Chemical Compounds, Biology and Life Sciences, Proteins, Cell Biology, medicine.disease, Mice, Inbred C57BL, Muscular Dystrophy, Duchenne, Disease Models, Animal, Oxidative Stress, 030104 developmental biology, Endocrinology, Amniotes, biology.protein, Mice, Inbred mdx, Tyrosine, Creatine kinase, Zoology, 030217 neurology & neurosurgery, Oxidative stress, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94cc3f508363b88fbec022d2e54d395e
http://europepmc.org/articles/PMC7544076

المؤلفون: Michael W. Lawlor, Hayley Goullee, Rachel Harries, Coen A.C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Robbert van der Pijl, Lisa M. Griffiths, Katarina Pelin, Gianina Ravenscroft, Kristen J. Nowak, Carina Wallgren-Pettersson, Elyshia McNamara, Caroline Sewry, Catherine D. Wingate, Rhonda L. Taylor, Joshua S. Clayton, Jacob A. Ross, Nigel G. Laing, J. Laitila

المساهمون: Katarina Pelin / Principal Investigator, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Molecular and Integrative Biosciences Research Programme, Biosciences, Genetics, Faculty of Biological and Environmental Sciences, Physiology, ACS - Pulmonary hypertension & thrombosis, General practice, ACS - Heart failure & arrhythmias

المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)
Laitila, J M, McNamara, E L, Wingate, C D, Goullee, H, Ross, J A, Taylor, R L, van der Pijl, R, Griffiths, L M, Harries, R, Ravenscroft, G, Clayton, J S, Sewry, C, Lawlor, M W, Ottenheijm, C A C, Bakker, A J, Ochala, J, Laing, N G, Wallgren-Pettersson, C, Pelin, K & Nowak, K J 2020, ' Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb ', Acta neuropathologica communications, vol. 8, no. 1, 18 . https://doi.org/10.1186/s40478-020-0893-1
Acta neuropathologica communications, 8(1):18. BioMed Central

مصطلحات موضوعية: Male, EXON 55, Muscle Proteins, Skeletal muscle, Compound heterozygosity, Myopathies, Nemaline, lcsh:RC346-429, 3124 Neurology and psychiatry, 0302 clinical medicine, Nemaline myopathy, Missense mutation, Genetics, 0303 health sciences, Congenital myopathy, biology, HUMAN SKELETAL-MUSCLE, Neuromuscular disease, Phenotype, 3. Good health, Codon, Nonsense, Female, CONTRACTILE FUNCTION, THIN FILAMENT LENGTH, Nonsense mutation, Mutation, Missense, ISOFORMS, Pathology and Forensic Medicine, FORCE, 03 medical and health sciences, Cellular and Molecular Neuroscience, Nebulin, medicine, Animals, Nemaline bodies, Muscle, Skeletal, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, IDENTIFICATION, Research, 3112 Neurosciences, medicine.disease, GENE, Mice, Inbred C57BL, MICE, Disease Models, Animal, biology.protein, Neurology (clinical), Murine model, 030217 neurology & neurosurgery, GENERATION

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c3f5c6a3537aab06d478ab85db00ac2
https://pubmed.ncbi.nlm.nih.gov/32066503

المؤلفون: Catherine D. Wingate, Christopher John Barclay, Bradley S. Launikonis, Tanya R. Cully, Anthony J. Bakker

المصدر: Journal of General Physiology. 149:323-334

مصطلحات موضوعية: 0301 basic medicine, Contraction (grammar), Physiology, chemistry.chemical_element, Skeletal muscle, Stimulation, Calcium, Motor neuron, Troponin C, 03 medical and health sciences, 030104 developmental biology, Nuclear magnetic resonance, medicine.anatomical_structure, chemistry, medicine, medicine.symptom, Tetanic stimulation, Muscle contraction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c9e3a33b1f228116e2ff860d2aea9912
https://doi.org/10.1085/jgp.201611727

المؤلفون: Anthony J, Bakker, Tanya R, Cully, Catherine D, Wingate, Christopher J, Barclay, Bradley S, Launikonis

المصدر: The Journal of General Physiology

مصطلحات موضوعية: Male, Motor Neurons, Ryanodine Receptor Calcium Release Channel, Models, Theoretical, musculoskeletal system, Mice, Sarcoplasmic Reticulum, Commentary, Animals, Calcium, Muscle, Skeletal, Troponin C, Muscle Contraction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5a9735bf41b00252de9aee7abfcbc511
https://pubmed.ncbi.nlm.nih.gov/28213459

المؤلفون: Catherine D. Wingate, Kristen J. Nowak, Anthony J. Bakker, Peter G. Arthur, Gavin J. Pinniger

المصدر: Neuromuscular Disorders. 27:S190-S191

مصطلحات موضوعية: Neurology, biology, Mouse strain, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), Contractile phenotype, Dystrophin, Genetics (clinical), Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::82174ab71cd234cc87f9af985df1a74d
https://doi.org/10.1016/j.nmd.2017.06.352