المؤلفون: Nika Maani, Karen Panabaker, Jeanna M. McCuaig, Kathleen Buckley, Kara Semotiuk, Kirsten M. Farncombe, Peter Ainsworth, Seema Panchal, Bekim Sadikovic, Susan Randall Armel, Hanxin Lin, Raymond H. Kim

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/51d40d0aa8aa4187b039858a26fe2992

المؤلفون: Isha Berry, Meghan O’Neill, Shelby L. Sturrock, James E. Wright, Kamal Acharya, Gabrielle Brankston, Vinyas Harish, Kathy Kornas, Nika Maani, Thivya Naganathan, Lindsay Obress, Tanya Rossi, Alison E. Simmons, Matthew Van Camp, Xiao Xie, Ashleigh R. Tuite, Amy L. Greer, David N. Fisman, Jean-Paul R. Soucy

المصدر: Scientific Data, Vol 8, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2052-4463

URL الوصول: https://doaj.org/article/28c0656b46b641a0bbe113e246fcec0d

المؤلفون: Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling

المصدر: Disease Models & Mechanisms, Vol 15, Iss 7 (2022)

مصطلحات موضوعية: mice, myotubularin, myotubular myopathy, muscle disease, natural history, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/15/7/dmm049342; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/00e21e3cffdc4d9fbf0a56fd56b7ca81

المؤلفون: Nika Maani, Nesrin Sabha, Kamran Rezai, Arun Ramani, Linda Groom, Nadine Eltayeb, Faranak Mavandadnejad, Andrea Pang, Giulia Russo, Michael Brudno, Volker Haucke, Robert T. Dirksen, James J. Dowling

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/7fbfa0258973415ea77898bbaf016988

المؤلفون: Nika Maani, Shelley Westergard, Joanna Yang, Anabel M. Scaranelo, Stephanie Telesca, Emily Thain, Nathan F. Schachter, Jeanna M. McCuaig, Raymond H. Kim

المصدر: Cancers; Volume 11; Issue 5; Pages: 707

مصطلحات موضوعية: breast cancer, neurofibromatosis type I, high-risk screening, screening uptake

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/cancers11050707

الاتاحة: https://doi.org/10.3390/cancers11050707

المؤلفون: Vinyas Harish, Shelby L. Sturrock, Amy L. Greer, Alison E. Simmons, Kathy Kornas, Thivya Naganathan, Isha Berry, Xiao Xie, Nika Maani, Jean-Paul R. Soucy, Gabrielle Brankston, Ashleigh R. Tuite, Lindsay Obress, Tanya M Rossi, Matthew Van Camp, David N. Fisman, Meghan O’Neill, James E. Wright, Kamal Acharya

المصدر: Scientific Data, Vol 8, Iss 1, Pp 1-10 (2021)
Scientific Data

مصطلحات موضوعية: 0301 basic medicine, Statistics and Probability, medicine.medical_specialty, Canada, Data Descriptor, Resource (biology), Databases, Factual, Science, Dashboard (business), MEDLINE, Library and Information Sciences, Education, 03 medical and health sciences, 0302 clinical medicine, Pandemic, Epidemiology, medicine, Humans, 030212 general & internal medicine, Pandemics, Geography, business.industry, Public health, Data Collection, Vaccination, COVID-19, Public relations, Computer Science Applications, Open data, 030104 developmental biology, Scale (social sciences), Infectious diseases, Statistics, Probability and Uncertainty, business, Information Systems

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b35e448fa82518794bb7da2a51a5f00
https://doaj.org/article/28c0656b46b641a0bbe113e246fcec0d

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7fc13e1b643788c727c080fe1596b89
https://pubmed.ncbi.nlm.nih.gov/35844027

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

المؤلفون: Sophie Karolczak, Nika Maani, James J. Dowling

المصدر: Current opinion in neurology. 34(5)

مصطلحات موضوعية: Gene knockdown, Genetic Medicine, Muscle Weakness, business.industry, MEDLINE, Muscle weakness, Genetic Therapy, Oligonucleotides, Antisense, medicine.disease, Bioinformatics, Precision medicine, Approved drug, Congenital myopathy, Clinical trial, Neurology, medicine, Humans, Neurology (clinical), medicine.symptom, business, Myopathies, Structural, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3c0488f37dda83e6b312282e4922eca
https://pubmed.ncbi.nlm.nih.gov/34267051

المؤلفون: David Fisman (2622022), Ashleigh R Tuite (9910617), Amy Greer (3358988), Isha Berry (9910620), Meghan O’Neill (5581670), Shelby L Sturrock (9910623), James E. Wright (4038941), Kamal Acharya (3444275), Gabrielle Brankston (5146589), Vinyas Harish (9910626), Kathy Kornas (3439181), Nika Maani (9910629), Thivya Naganathan (9910632), Lindsay Obress (9910635), Tanya Rossi (9910638), Alison E. Simmons (9910641), Matthew Van Camp (9910644), Xiao Xie (133080), Jean-Paul R. Soucy (9910647)

مصطلحات موضوعية: Epidemiology, COVID-19 cases, covid-19 mortality, COVID-19 Testing, Covid-19 recoveries, COVID-19 vaccine, covid-19 canada

Relation: https://figshare.com/articles/dataset/A_sub-national_real-time_epidemiological_and_vaccination_database_for_the_COVID-19_pandemic_in_Canada/13480383

الاتاحة: https://doi.org/10.6084/m9.figshare.13480383.v1

المؤلفون: Shelley Westergard, Joanna Yang, Jeanna McCuaig, Emily Thain, Raymond H. Kim, Nathan F. Schachter, Anabel M. Scaranelo, Stephanie Telesca, Nika Maani

المصدر: Cancers, Vol 11, Iss 5, p 707 (2019)
Cancers
Volume 11
Issue 5

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Population, lcsh:RC254-282, Article, 03 medical and health sciences, Breast cancer screening, 0302 clinical medicine, Breast cancer, breast cancer, Internal medicine, neurofibromatosis type I, Epidemiology, medicine, Neurofibromatosis, education, skin and connective tissue diseases, neoplasms, Neurofibromatosis type I, education.field_of_study, medicine.diagnostic_test, screening uptake, business.industry, high-risk screening, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Comorbidity, eye diseases, nervous system diseases, 030104 developmental biology, 030220 oncology & carcinogenesis, Risk assessment, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae4585fde619feae8707003755ff7537
https://www.mdpi.com/2072-6694/11/5/707

المؤلفون: M. Alexander, J. Fish, Arun K. Ramani, Nesrin Sabha, D. Gustafson, Nika Maani, James J. Dowling

المصدر: Neuromuscular Disorders. 30:S75

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e34c5f3ef5c0e7d5ecd61c71057109b
https://doi.org/10.1016/j.nmd.2020.08.102

المؤلفون: Mo Zhao, Nika Maani, James J. Dowling

المصدر: Neurotherapeutics

مصطلحات موضوعية: 0301 basic medicine, Dynamins, Charcot–Marie–Tooth neuropathy, Congenital neuromuscular disorders, GTPase, Review, Biology, 03 medical and health sciences, Dynamin II, 0302 clinical medicine, Gene therapy, Membrane fission, medicine, Animals, Humans, Pharmacology (medical), Centronuclear myopathy, Muscle, Skeletal, Autosomal dominant centronuclear myopathy, Dynamin, Pharmacology, Skeletal muscle, Neuromuscular Diseases, DNM2, medicine.disease, Phenotype, 3. Good health, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Mutation, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7e783737a3bc8b0b236f4abb40b5cf6
https://pubmed.ncbi.nlm.nih.gov/30426359

المؤلفون: Linda Groom, Nesrin Sabha, Jonathan R. Volpatti, H. Gonorazky, Nika Maani, Robert T. Dirksen, K. Rezai, James J. Dowling

المصدر: Neuromuscular Disorders. 27:S169-S170

مصطلحات موضوعية: Nuclear magnetic resonance, Neurology, Chemistry, Pediatrics, Perinatology and Child Health, Excitation–contraction coupling, Myotubular Myopathy, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::352886da79a6ea994bee1e5d2a69a79c
https://doi.org/10.1016/j.nmd.2017.06.278

المؤلفون: James J. Dowling, Shahryar Khattak, R. Cohn, Z. Ivakine, Nika Maani, H. Gonorazky

المصدر: Neuromuscular Disorders. 26:S127

مصطلحات موضوعية: Genetics, Neurology, Genome editing, Pediatrics, Perinatology and Child Health, CRISPR, Neurology (clinical), Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e06d6a8a5ebd3b097d6dd2a0232ec4fe
https://doi.org/10.1016/j.nmd.2016.06.152