-
1دورية أكاديمية
المؤلفون: Sean Harrington, Jessica J. Knox, Andrew R. Burns, Ken-Loon Choo, Aaron Au, Megan Kitner, Cecile Haeberli, Jacob Pyche, Cassandra D’Amata, Yong-Hyun Kim, Jonathan R. Volpatti, Maximillano Guiliani, Jamie Snider, Victoria Wong, Bruna M. Palmeira, Elizabeth M. Redman, Aditya S. Vaidya, John S. Gilleard, Igor Stagljar, Sean R. Cutler, Daniel Kulke, James J. Dowling, Christopher M. Yip, Jennifer Keiser, Inga Zasada, Mark Lautens, Peter J. Roy
المصدر: Communications Biology, Vol 5, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2399-3642
-
2دورية أكاديمية
المؤلفون: Jonathan R. Volpatti, Almundher Al-Maawali, Lindsay Smith, Aqeela Al-Hashim, Julie A. Brill, James J. Dowling
المصدر: Disease Models & Mechanisms, Vol 12, Iss 8 (2019)
مصطلحات موضوعية: ALS, Charcot Marie Tooth disease, Congenital myopathy, Neurogenetic, Phosphoinositides, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
-
3
المؤلفون: Andrew R. Burns, Rachel J. Baker, Megan Kitner, Jessica Knox, Brittany Cooke, Jonathan R. Volpatti, Aditya S. Vaidya, Emily Puumala, Bruna M. Palmeira, Elizabeth M. Redman, Jamie Snider, Sagar Marwah, Sai W. Chung, Margaret H. MacDonald, Jens Tiefenbach, Chun Hu, Qi Xiao, Constance A. M. Finney, Henry M. Krause, Sonya A. MacParland, Igor Stagljar, John S. Gilleard, Leah E. Cowen, Susan L. F. Meyer, Sean R. Cutler, James J. Dowling, Mark Lautens, Inga Zasada, Peter J. Roy
المصدر: Nature. 618:102-109
مصطلحات موضوعية: Multidisciplinary
-
4
المؤلفون: Sean Harrington, Jessica J. Knox, Andrew R. Burns, Ken-Loon Choo, Aaron Au, Megan Kitner, Cecile Haeberli, Jacob Pyche, Cassandra D’Amata, Yong-Hyun Kim, Jonathan R. Volpatti, Maximillano Guiliani, Jamie Snider, Victoria Wong, Bruna M. Palmeira, Elizabeth M. Redman, Aditya S. Vaidya, John S. Gilleard, Igor Stagljar, Sean R. Cutler, Daniel Kulke, James J. Dowling, Christopher M. Yip, Jennifer Keiser, Inga Zasada, Mark Lautens, Peter J. Roy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4100a7c0b65ba86be56e562f62e6919b
https://doi.org/10.1101/2022.03.12.484074 -
5
المؤلفون: Andrew R. Burns, Rachel J. Ross, Megan Kitner, Jonathan R. Volpatti, Aditya S. Vaidya, Emily Puumala, Bruna M. Palmeira, Elizabeth M. Redman, Jamie Snider, Sagar Marwah, Sai W. Chung, Margaret H. MacDonald, Jens Tiefenbach, Chun Hu, Qi Xiao, Constance A. M. Finney, Henry M. Krause, Sonya A. MacParland, Igor Stagljar, John S. Gilleard, Leah E. Cowen, Susan L. F. Meyer, Sean R. Cutler, James J. Dowling, Mark Lautens, Inga Zasada, Peter J. Roy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a3f3aabd911c80f548fbb20d676b5505
https://doi.org/10.1101/2022.03.11.483960 -
6
المؤلفون: Jonathan R. Volpatti, Mehdi M. Ghahramani-Seno, Mélanie Mansat, Nesrin Sabha, Ege Sarikaya, Sarah J. Goodman, Eric Chater-Diehl, Alper Celik, Emanuela Pannia, Carine Froment, Lucie Combes-Soia, Nika Maani, Kyoko E. Yuki, Gaëtan Chicanne, Liis Uusküla-Reimand, Simon Monis, Sana Akhtar Alvi, Casie A. Genetti, Bernard Payrastre, Alan H. Beggs, Carsten G. Bonnemann, Francesco Muntoni, Michael D. Wilson, Rosanna Weksberg, Julien Viaud, James J. Dowling
المصدر: Acta neuropathologica. 144(3)
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Disease Models, Animal, Mice, Valproic Acid, Animals, Neurology (clinical), Muscle, Skeletal, Protein Tyrosine Phosphatases, Non-Receptor, Zebrafish, Pathology and Forensic Medicine, Epigenesis, Genetic, Myopathies, Structural, Congenital
-
7
المصدر: Human Molecular Genetics. 28:4186-4196
مصطلحات موضوعية: Transcriptional Activation, 0301 basic medicine, Heterozygote, GTPase, Biology, Endocytosis, medicine.disease_cause, Animals, Genetically Modified, Dynamin II, 03 medical and health sciences, 0302 clinical medicine, Membrane fission, Charcot-Marie-Tooth Disease, Genetics, medicine, Animals, Humans, Centronuclear myopathy, Muscle, Skeletal, Molecular Biology, Autosomal dominant centronuclear myopathy, Zebrafish, Genetics (clinical), Dynamin, Mutation, Neuromuscular Diseases, General Medicine, medicine.disease, biology.organism_classification, Cell biology, Disease Models, Animal, Phenotype, 030104 developmental biology, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc865b286822e1ee4e7db78e7d405d71
https://doi.org/10.1093/hmg/ddz260 -
8
المؤلفون: Jonathan R. Volpatti, James J. Dowling, Hernan Gonorazky, Alper Celik, P.C.G. Onofre-Oliveira, Nika Maani, Ege Sarikaya, Nesrin Sabha
مصطلحات موضوعية: Myotubularin, Muscle weakness, Skeletal muscle, Disease, Biology, medicine.disease, X-linked myotubular myopathy, medicine.anatomical_structure, Knockout mouse, medicine, medicine.symptom, Neuroscience, Natural history study, Gene knockout
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::826c4e64e7315864f888fdec189c5899
https://doi.org/10.1101/2021.10.11.463940 -
9
المؤلفون: Peter J. Roy, Jessica Knox, Ramil R. Noche, Jonathan R. Volpatti, Yukari Endo, James J. Dowling, Linda Groom, Robert T. Dirksen, Stephanie Brennan, William J. Zuercher
المصدر: eLife, Vol 9 (2020)
مصطلحات موضوعية: 0301 basic medicine, Drug, QH301-705.5, Science, media_common.quotation_subject, Biology, drug screen, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, RYR1, medicine, Biology (General), Myopathy, Zebrafish, media_common, General Immunology and Microbiology, Ryanodine receptor, Myogenesis, General Neuroscience, Wild type, General Medicine, musculoskeletal system, biology.organism_classification, animal models, 3. Good health, Cell biology, excitation contraction coupling, 030104 developmental biology, Medicine, medicine.symptom, 030217 neurology & neurosurgery, Intracellular, myopathy
-
10
المؤلفون: Robert T. Dirksen, Yukari Endo, Stephanie Brennan, Linda Groom, Jonathan R. Volpatti, Jessica Knox, Ramil R. Noche, William J. Zuercher, Peter J. Roy, James J. Dowling
مصطلحات موضوعية: Computer science, medicine, Multi species, Identification (biology), Computational biology, medicine.symptom, Myopathy, Pipeline (software)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::208222a7fc083438acb348a211ccc522
https://doi.org/10.7554/elife.52946.sa2