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1دورية أكاديمية
المؤلفون: Nandaki Keshavan, Michelle Wood, Lucy M. Alderson, Mario Cortina‐Borja, Rachel Skeath, Mel McSweeney, Marjorie Dixon, Maureen A. Cleary, Emma Footitt, Spyros Batzios
المصدر: JIMD Reports, Vol 63, Iss 2, Pp 123-130 (2022)
مصطلحات موضوعية: arginase deficiency, hyperammonaemia, metabolic decompensation, trial end points, urea cycle disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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2دورية أكاديمية
المؤلفون: Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2155-2165 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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المؤلفون: Nandaki Keshavan, Michelle Wood, Lucy M. Alderson, Mario Cortina‐Borja, Rachel Skeath, Mel McSweeney, Marjorie Dixon, Maureen A. Cleary, Emma Footitt, Spyros Batzios
المصدر: JIMD Reports. 63:123-130
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine, Biochemistry, Genetics and Molecular Biology (miscellaneous)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b990ad0e5c8fb9347e63e8694ed6305Test
https://doi.org/10.1002/jmd2.12266Test -
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المصدر: Journal of Inherited Metabolic Disease
مصطلحات موضوعية: medicine.medical_specialty, mitochondrial biogenesis, Mitochondrial Diseases, Cell Transplantation, Mitochondrial disease, Review Article, DNA, Mitochondrial, Ssiem Articles, Oxidative Phosphorylation, 03 medical and health sciences, RNA, Transfer, Genetics, medicine, Animals, Humans, Treatment effect, Intensive care medicine, Hypoxia, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Clinical Trials as Topic, treatment, business.industry, 030305 genetics & heredity, primary mitochondrial disease, Outcome measures, clinical trial, Free Radical Scavengers, Genetic Therapy, medicine.disease, gene therapy, Mitochondrial Replacement Therapy, Exercise Therapy, Mitochondria, Clinical trial, Natural history, antioxidants, mitophagy, Mitochondrial biogenesis, Dietary Supplements, Mutation, business, Early phase, nucleosides
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca4431d1a4fd5b695c34c9e5483f008Test
http://europepmc.org/articles/PMC8432143Test -
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المؤلفون: Alessandro Giardini, Jacques Patrick Barbet, Gillian I. Rice, Shamima Rahman, Charlotte Boussard, Cyril Gitiaux, Vincent Bondet, Nathalie Dedieu, Marie Hully, Brigitte Bader-Meunier, Nandaki Keshavan, Yanick J. Crow, Geanina Bercu, Darragh Duffy, Luis Seabra
المساهمون: University of Edinburgh, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Great Ormond Street Hospital for Children [London] (GOSH), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Immunobiologie des Cellules dendritiques, Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris], University of Manchester [Manchester], Rheumatism and autoimmune diseases (RAISE), Mother and Children University Hospital, YJC acknowledges funding from the European Research Council (GA 309449), fellowship and a state subsidy managed by the National Research Agency (ANR, France) under the 'Investments for the Future' (ANR-10-IAHU-01). SR acknowledges funding from the Great Ormond Street Hospital Children’s Charity, the NIHR Great Ormond Street Hospital Biomedical Research Centre and the Lily Foundation., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 309449,EC:FP7:ERC,ERC-2012-StG_20111109,T1-IFN(2013), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Vougny, Marie-Christine, Instituts Hospitalo-Universitaires - Institut Hospitalo-Universitaire Imagine - - Imagine2010 - ANR-10-IAHU-0001 - IAHU - VALID, Definition and characterization of type I interferonopathies - T1-IFN - - EC:FP7:ERC2013-03-01 - 2018-02-28 - 309449 - VALID
المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (7), pp.475-478. ⟨10.1136/jmedgenet-2019-106457⟩
Journal of Medical Genetics, 2020, 57 (7), pp.475-478. ⟨10.1136/jmedgenet-2019-106457⟩
Crow, Y, Keshavan, N, Barbet, J P, Bercu, G, Bondet, V, Boussard, C, Dedieu, N, Duffy, D, Hully, M, Giardini, A, Gitiaux, C, Rice, G I, Seabra, L, Bader-Meunier, B & Rahman, S 2019, ' Cardiac valve involvement in ADAR-related type I interferonopathy ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2019-106457Testمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, [SDV.IMM] Life Sciences [q-bio]/Immunology, Encephalopathy, Context (language use), Disease, 03 medical and health sciences, 0302 clinical medicine, Aortic valve replacement, Internal medicine, Genetics, Medicine, metabolic disorders, immunology (including allergy), Genetics (clinical), business.industry, medicine.disease, 3. Good health, Stenosis, 030104 developmental biology, cardiovascular medicine, Cardiology, Etiology, cardiovascular system, [SDV.IMM]Life Sciences [q-bio]/Immunology, business, Paraplegia, 030217 neurology & neurosurgery, clinical genetics, Calcification
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0268ec54dbea00bdf512a6a06ff3b96cTest
https://hal-pasteur.archives-ouvertes.fr/pasteur-02396619Test -
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المؤلفون: Robert McFarland, Frans G. M. Russel, Mar O'Callaghan, Mitchell E. Allen, Tom J.J. Schirris, Maaike de Vries, Grainne S. Gorman, Costanza Lamperti, Kristin N. Varhaug, Yi Shiau Ng, Robert D S Pitceathly, Laurence A. Bindoff, David Brown, Shamima Rahman, Michelangelo Mancuso, Nandaki Keshavan, Amel Karaa
المساهمون: Medical Microbiology and Infection Prevention
المصدر: Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, 43(4), 800-818. Springer Netherlands
Journal of Inherited Metabolic Disease, 43, 800-818
Journal of Inherited Metabolic Disease, 43, 4, pp. 800-818مصطلحات موضوعية: Drug, safety, medicine.medical_specialty, Consensus, Internationality, Delphi Technique, Drug-Related Side Effects and Adverse Reactions, Mitochondrial disease, media_common.quotation_subject, Patient advocacy, drugs, All institutes and research themes of the Radboud University Medical Center, in vivo studies, Toxicity Tests, Genetics, medicine, Humans, mitochondrial toxicity, in vitro studies, mitochondrial diseases, Adverse effect, Intensive care medicine, Genetics (clinical), computer.programming_language, media_common, business.industry, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Original Articles, medicine.disease, Mitochondria, Mitochondrial toxicity, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Drug class, Pharmaceutical Preparations, Drug Design, Practice Guidelines as Topic, Original Article, business, computer, Delphi
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::797b07154409ed5926e99ca0d692c1d3Test
https://hdl.handle.net/11250/2739746Test -
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المؤلفون: Yanick, Crow, Nandaki, Keshavan, Jacques Patrick, Barbet, Geanina, Bercu, Vincent, Bondet, Charlotte, Boussard, Nathalie, Dedieu, Darragh, Duffy, Marie, Hully, Alessandro, Giardini, Cyril, Gitiaux, Gillian Inara, Rice, Luis, Seabra, Brigitte, Bader-Meunier, Shamima, Rahman
المصدر: Journal of medical genetics. 57(7)
مصطلحات موضوعية: Male, Interferon-Induced Helicase, IFIH1, Adolescent, Adenosine Deaminase, Heart Valve Diseases, RNA-Binding Proteins, Nervous System Malformations, Fibrosis, Heart Valves, Autoimmune Diseases of the Nervous System, Phenotype, Echocardiography, Gain of Function Mutation, Interferon Type I, Humans, Female, Genetic Predisposition to Disease, Child, Vascular Calcification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f2084c67e188593e0df46d4880a0a4d5Test
https://pubmed.ncbi.nlm.nih.gov/31772029Test -
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المؤلفون: Nandaki Keshavan, Shamima Rahman
المصدر: Essays in biochemistry. 62(3)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Mitochondrial disease, Disease, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Endocrine system, Medicine, Humans, Age of Onset, Molecular Biology, Clinical Trials as Topic, business.industry, Genitourinary system, medicine.disease, Natural history, Clinical trial, 030104 developmental biology, Phenotype, Mutation, Age of onset, Abnormality, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f232786da5c5e9abe586b2b72a88479eTest
https://pubmed.ncbi.nlm.nih.gov/29980629Test -
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المؤلفون: Nicola K, Love, Nandaki, Keshavan, Rebecca, Lewis, William A, Harris, Michalis, Agathocleous
المصدر: Development (Cambridge, England)
مصطلحات موضوعية: Stem Cells, TOR Serine-Threonine Kinases, Proliferation, Cell Differentiation, Restriction point, Retina, Enzyme Activation, Xenopus laevis, Neural Stem Cells, Food, Differentiation, mTOR, Animals, Cell Lineage, Cilia, Zebrafish, Research Articles, Nutrient deprivation, Cell Proliferation, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::096e177647d5b9717c691a24117593adTest
https://pubmed.ncbi.nlm.nih.gov/24449845Test