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1دورية أكاديمية
المؤلفون: Margaux Poleur, Theodora Markati, Laurent Servais
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-31 (2023)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المصدر: Frontiers in Pharmacology, Vol 12 (2021)
مصطلحات موضوعية: antisense oligonucleotides, clinical trials, duchenne muscular dystrophy, dystrophin, exon skipping, randomized controlled clinical trials, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
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3
المؤلفون: Theodora Markati, Maryam Oskoui, Michelle A Farrar, Tina Duong, Nathalie Goemans, Laurent Servais
المصدر: The Lancet Neurology. 21:814-829
مصطلحات موضوعية: Dystrophin, Muscular Dystrophy, Duchenne, Genotype, Humans, Exons, Genetic Therapy, Neurology (clinical)
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4
المؤلفون: Gemma Fisher, Laurane Mackels, Theodora Markati, Anna Sarkozy, Julien Ochala, Heinz Jungbluth, Sithara Ramdas, Laurent Servais
المصدر: Fisher, G, Mackels, L, Markati, T, Sarkozy, A, Ochala, J, Jungbluth, H, Ramdas, S & Servais, L 2022, ' Early clinical and pre-clinical therapy development in Nemaline myopathy ', Expert Opinion On Therapeutic Targets, vol. 26, no. 10, pp. 853–867 . https://doi.org/10.1080/14728222.2022.2157258
مصطلحات موضوعية: Pharmacology, Congenital myopathy, CONGENITAL MYOPATHIES, Clinical Biochemistry, NEB, GENE-THERAPY, NEBULIN GENE, PROTEIN-KINASE, PHENOTYPE, gene therapy, ACTIVATION, fast troponin activators, myostatin, pyridostigmine, Drug Discovery, NEUROMUSCULAR-TRANSMISSION, Molecular Medicine, ACTA1, GROWTH, SKELETAL-MUSCLE TROPONIN, MUTATION, exon skipping
وصف الملف: application/pdf
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5
المؤلفون: Theodora Markati, Gemma Fisher, Sithara Ramdas, Laurent Servais
مصطلحات موضوعية: Pharmacology, Motor Neurons, Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Pyrimidines, Rare Diseases, RNA Splicing, Infant, Newborn, Humans, Pharmacology (medical), General Medicine, Azo Compounds, Survival of Motor Neuron 1 Protein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::976ac9370fb2c9052d14bb451691c3d0
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6
المؤلفون: Laurent Servais, Theodora Markati, Jessica Duis
المصدر: Expert opinion on investigational drugs. 30(7)
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Genetic enhancement, Ubiquitin-Protein Ligases, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Ube3a-ATS, Angelman syndrome, UBE3A, medicine, Animals, Humans, Pharmacology (medical), Enzyme Replacement Therapy, Pharmacology, business.industry, General Medicine, Genetic Therapy, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, Antisense oligonucleotides, Angelman Syndrome, business, Genomic imprinting
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7
المؤلفون: Seetha Shankaran, Natasha Liow, Russell Pryce, Paolo Montaldo, Aung Soe, Justinas Teiserskas, Theodora Markati, Vânia Oliveira, Ujwal Kariholu, Sudhin Thayyil, Peter J Lally
المساهمون: Medical Research Council, Health Education England (HEE)
المصدر: Archives of Disease in Childhood - Fetal and Neonatal Edition. 105:225-228
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Developmental Disabilities, Encephalopathy, MEDLINE, therapeutic hypothermia, hypoxic ischaemic encephalopathy, Infant, Newborn, Diseases, 03 medical and health sciences, 0302 clinical medicine, newborn, Hypothermia, Induced, 030225 pediatrics, medicine, Humans, 030212 general & internal medicine, Randomized Controlled Trials as Topic, Brain Diseases, Neonatal encephalopathy, business.industry, Infant, Newborn, Obstetrics and Gynecology, General Medicine, Hypothermia, medicine.disease, meta-analysis, Clinical trial, Data extraction, Relative risk, Meta-analysis, Pediatrics, Perinatology and Child Health, 1114 Paediatrics and Reproductive Medicine, medicine.symptom, business
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8
المؤلفون: Anuj Vakharia, Vania Oliveira, Theodora Markati, Sudhin Thayyil, Phoebe Ivain, Josephine Mendoza, Paolo Montaldo, Seetha Shankaran
المساهمون: Medical Research Council (MRC), Health Education England (HEE)
مصطلحات موضوعية: medicine.medical_specialty, Sedation, Hypothermia, Pediatrics, Hypothermia induced, Article, Hypothermia, Induced, medicine, Humans, pain, Morphine, business.industry, Cooling therapy, Infant, Newborn, Obstetrics and Gynecology, Neurointensive care, General Medicine, Analgesics, Opioid, Opioid, Current practice, Pediatrics, Perinatology and Child Health, Emergency medicine, Hypoxia-Ischemia, Brain, opioid, 1114 Paediatrics and Reproductive Medicine, therapautic hypothermia, medicine.symptom, neonate, Opioid analgesics, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9611036e1a027d68b4a0a55adfe05bd5
http://hdl.handle.net/10044/1/69853