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1دورية أكاديمية
المؤلفون: Idan Segal, Sam Khamis, Liora Sagie, Jacob Genizi, David Azriel, Sharona Katzenelenbogen, Aviva Fattal-Valevski
المصدر: Children, Vol 10, Iss 3, p 531 (2023)
مصطلحات موضوعية: hemiplegia, cerebral palsy, FES, functional benefit, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2
المؤلفون: Tomer Avnon, Aviva Fattal-Valevski, Liora Sagie, Avi Orr-Urtreger, Shay Ben-Shachar, Yakov Fellig, Ran Svirsky
المصدر: J Pediatr Genet
مصطلحات موضوعية: Genetics, RYR1, 0303 health sciences, 030305 genetics & heredity, Autosomal dominant trait, Biology, Compound heterozygosity, medicine.disease, Hypotonia, 03 medical and health sciences, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, Family history, Allele, medicine.symptom, 030217 neurology & neurosurgery, Genetics (clinical), Central core disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73a0bc7f66a64eca2cfcf92e30f3e9f7
https://europepmc.org/articles/PMC7183409/ -
3
المؤلفون: Shay Menascu, Karen Geva, Liora Sagie, Aviva Fattal-Valevski, Shay Ben-Shachar, Moran Hausman-Kedem
المصدر: Neurogenetics. 20(4)
مصطلحات موضوعية: 0301 basic medicine, Adolescent, Hereditary spastic paraplegia, Vesicular Transport Proteins, Genes, Recessive, Biology, Intracellular cholesterol transport, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Atrophy, Paraparesis, Intellectual Disability, Genetics, medicine, Humans, Exome, Spasticity, Child, Gene, Genetics (clinical), Exome sequencing, Family Health, Spastic Paraplegia, Hereditary, Siblings, Homozygote, Brain, Genetic Variation, Membrane Proteins, medicine.disease, Phenotype, Magnetic Resonance Imaging, Human genetics, Pedigree, 030104 developmental biology, Cholesterol, Paraparesis, Spastic, Female, medicine.symptom, Lysosomes, 030217 neurology & neurosurgery
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4
المؤلفون: Rony Cohen, Liora Sagie, Simon Edvardson, Zohar Argov, Yoram Nevo, Ronen Spiegel, Ayelet Halevy, Aviva Mimouni-Bloch, Yehuda Shapira, Ilana Chervinsky, Andrew G. Engel, Muhannad Daana, Talia Dor-Wollman, Menachem Sadeh, Malcolm Rabie, Sharon Aharoni, Naama Orenstein
المصدر: Neuromuscular disorders : NMD. 27(2)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, DNA Mutational Analysis, Muscle Proteins, Iran, Receptors, Nicotinic, medicine.disease_cause, Article, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, COLQ, medicine, CHRNE, Humans, In patient, Israel, Genetics (clinical), health care economics and organizations, Genetics, Myasthenic Syndromes, Congenital, Mutation, biology, business.industry, social sciences, Congenital myasthenic syndrome, medicine.disease, humanities, Pedigree, RAPSN, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Iraq, biology.protein, Acetylcholinesterase, Neurology (clinical), Collagen, business, 030217 neurology & neurosurgery
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5
المؤلفون: Nathanel Zelnik, Mitchell Schertz, Eli Heyman, Eli Lahat, Aviva Fattal-Valevski, Liora Sagie, Amir Livne
المصدر: Journal of child neurology. 31(6)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Gestational Age, Hemiplegia, Cerebral palsy, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Risk Factors, 030225 pediatrics, medicine, Humans, Israel, Child, Stroke, Hemiplegic cerebral palsy, Cerebral atrophy, Periventricular leukomalacia, business.industry, Cerebral Palsy, Retrospective cohort study, medicine.disease, Porencephaly, Intraventricular hemorrhage, Child, Preschool, Pediatrics, Perinatology and Child Health, Premature Birth, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Infant, Premature
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eccdda0e47386dbe89f7024535d3429b
https://pubmed.ncbi.nlm.nih.gov/26500242 -
6
المؤلفون: Etty Osher, Avi Valevski, Liora Sagie, Naftali Stern, Ari Zimran, Deborah Elstein, Aviva Fattal-Valevski, Nataly Urshanski, Tally Lerman-Sagie, Nadav Sagiv, Leah Peleg, Ruth Navon
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Late onset, Pilot Projects, Drug Administration Schedule, Gene Expression Regulation, Enzymologic, Young Adult, Hexosaminidase A, β hexosaminidase A, Internal medicine, Lysosomal storage disease, medicine, Humans, Hexosaminidase, Genetics(clinical), Pharmacology (medical), Genetics (clinical), Medicine(all), Tay-Sachs Disease, Dose-Response Relationship, Drug, business.industry, Research, Tay-Sachs disease, Low dose, General Medicine, medicine.disease, HEXA, Endocrinology, Pyrimethamine, Late Onset Tay Sachs, Open label, business, medicine.drug
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المؤلفون: Nataly Urshanski, Sara Katzburg, Leah Peleg, Etty Osher, Avi Valevski, Ruth Navon, Ari Zimran, Aviva Fattal-Valevski, Liora Sagie, Tally Lerman-Sagie, Yifat Amir-Levi, Naftali Stern, Deborah Elstein
المصدر: Molecular genetics and metabolism. 102(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Stereochemistry, Endocrinology, Diabetes and Metabolism, Lymphocyte, Late onset, Neuropsychological Tests, Biochemistry, Young Adult, Endocrinology, Hexosaminidase A, In vivo, Internal medicine, Genetics, medicine, Humans, Lymphocytes, Young adult, Child, Molecular Biology, Aged, Tay-Sachs Disease, Dose-Response Relationship, Drug, business.industry, Middle Aged, HEXA, Enzyme Activation, Dose–response relationship, medicine.anatomical_structure, Pyrimethamine, Treatment Outcome, Concomitant, Folic Acid Antagonists, Female, business, medicine.drug
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المؤلفون: S. Edvardson, Ayelet Halevy, Aviva Mimouni-Bloch, Sharon Aharoni, A.G. Engel, Rony Cohen, Yoram Nevo, M. Daana, Liora Sagie, T. Dor-Wolman
المصدر: European Journal of Paediatric Neurology. 19:S140
مصطلحات موضوعية: medicine.medical_specialty, Mutation, Pathology, biology, business.industry, General Medicine, Ethnic origin, Congenital myasthenic syndrome, medicine.disease_cause, medicine.disease, RAPSN, Ptosis, Internal medicine, Pediatrics, Perinatology and Child Health, COLQ, medicine, biology.protein, CHRNE, Neurology (clinical), medicine.symptom, business, Exome sequencing