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1دورية أكاديمية
المؤلفون: Vernau, Karen M, Struys, Eduard, Letko, Anna, Woolard, Kevin D, Aguilar, Miriam, Brown, Emily A, Cissell, Derek D, Dickinson, Peter J, Shelton, G Diane, Broome, Michael R, Gibson, K Michael, Pearl, Phillip L, König, Florian, Van Winkle, Thomas J, O'Brien, Dennis, Roos, B, Matiasek, Kaspar, Jagannathan, Vidhya, Drögemüller, Cord, Mansour, Tamer A, Brown, C Titus, Bannasch, Danika L
المصدر: Genes. 11(9)
مصطلحات موضوعية: Brain, Cerebrospinal Fluid, Animals, Dogs, Seizures, Amino Acid Metabolism, Inborn Errors, Disease Models, Animal, gamma-Aminobutyric Acid, Developmental Disabilities, Amino Acid Sequence, Phenotype, Mutation, Missense, Female, Male, Succinate-Semialdehyde Dehydrogenase, Metabolic Networks and Pathways, Genome-Wide Association Study, Genetic Testing, 4-hydroxybutyric acid, ALDH5A1, GABA, GWAS, SSADHD, encephalopathy, inborn error of metabolism, inherited, precision medicine, succinic semialdehyde, whole-genome sequencing, Orphan Drug, Rare Diseases, Brain Disorders, Genetics, Neurosciences, Biotechnology, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological
الوصول الحر: https://escholarship.org/uc/item/0jn6h55tTest
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2دورية أكاديميةDefects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibition
المؤلفون: Lakhani, Ronak, Vogel, Kara R, Till, Andreas, Liu, Jingjing, Burnett, Sarah F, Gibson, K Michael, Subramani, Suresh
المصدر: EMBO Molecular Medicine. 6(4)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Neurosciences, Aetiology, 1.1 Normal biological development and functioning, Underpinning research, 2.1 Biological and endogenous factors, Amino Acid Metabolism, Inborn Errors, Animals, Autophagy, Brain, Developmental Disabilities, Humans, Liver, Mice, Mice, Knockout, Succinate-Semialdehyde Dehydrogenase, TOR Serine-Threonine Kinases, gamma-Aminobutyric Acid, SSADH deficiency, rapamycin, mTOR, GABA, autophagy, Medical and Health Sciences, Biochemistry and cell biology
الوصول الحر: https://escholarship.org/uc/item/3p8482s4Test
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3
المؤلفون: Erland, Arning, Brandi, Wasek, Teodoro, Bottiglieri
المصدر: Methods in molecular biology (Clifton, N.J.). 2546
مصطلحات موضوعية: Acetonitriles, Isotopes, Tandem Mass Spectrometry, Humans, Hydrochloric Acid, Succinate-Semialdehyde Dehydrogenase, Transaminases, gamma-Aminobutyric Acid, Chromatography, Liquid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8456a8453ebb7b5eb3b6a132a4154426Test
https://pubmed.ncbi.nlm.nih.gov/36127587Test -
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المؤلفون: Jingjing Liu, Harper L. Kaye, Phillip L. Pearl, Melissa L. DiBacco, Melissa Tsuboyama, Alexander Rotenberg
المصدر: J Child Neurol
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, Adolescent, Databases, Factual, Developmental Disabilities, medicine.medical_treatment, Article, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Postsynaptic potential, medicine, Humans, Child, Receptor, Amino Acid Metabolism, Inborn Errors, GABAA receptor, business.industry, medicine.disease, Transcranial Magnetic Stimulation, Transcranial magnetic stimulation, 030104 developmental biology, Cortical Excitability, Pediatrics, Perinatology and Child Health, Corticospinal tract, Female, Silent period, Neurology (clinical), Succinate-Semialdehyde Dehydrogenase, business, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d3900a833925c85c741dd75b6285230Test
https://doi.org/10.1177/08830738211008735Test -
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المؤلفون: Xiaodan Chen, Minzhi Peng, Yanna Cai, Chengcheng Zhou, Li Liu
المصدر: BMC neuroscience. 23(1)
مصطلحات موضوعية: Cellular and Molecular Neuroscience, HEK293 Cells, Neural Stem Cells, General Neuroscience, Developmental Disabilities, Induced Pluripotent Stem Cells, Mutation, Humans, Succinate-Semialdehyde Dehydrogenase, Child, gamma-Aminobutyric Acid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27619b5aa80066f34f59acd5c0a6967aTest
https://pubmed.ncbi.nlm.nih.gov/36527006Test -
6
المؤلفون: Mark A. Colijn
المصدر: Psychiatric Genetics. 30:153-161
مصطلحات موضوعية: 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, Psychosis, Ataxia, Adolescent, Hallucinations, Developmental Disabilities, Population, Neuroimaging, Context (language use), Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Genetics, Humans, Medicine, Age of Onset, Child, education, Amino Acid Metabolism, Inborn Errors, gamma-Aminobutyric Acid, Biological Psychiatry, Genetics (clinical), Psychotropic Drugs, education.field_of_study, Epilepsy, business.industry, Valproic Acid, Contraindications, Drug, Electroencephalography, gamma-Hydroxybutyric acid, medicine.disease, Anxiety Disorders, Hypotonia, Aggression, Sleep Disorders, Intrinsic, Psychiatry and Mental health, Phenotype, 030104 developmental biology, Psychotic Disorders, Inborn error of metabolism, Anticonvulsants, Succinate-Semialdehyde Dehydrogenase, Symptom Assessment, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e65b74a59309cb01afbfa5652fd3622Test
https://doi.org/10.1097/ypg.0000000000000264Test -
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المصدر: International journal of molecular sciences. 23(5)
مصطلحات موضوعية: Developmental Disabilities, Organic Chemistry, General Medicine, Catalysis, Computer Science Applications, Inorganic Chemistry, Mice, Animals, Humans, Physical and Theoretical Chemistry, Succinate-Semialdehyde Dehydrogenase, Child, Molecular Biology, Amino Acid Metabolism, Inborn Errors, Spectroscopy, gamma-Aminobutyric Acid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d7dce29ef1880684f1258ba7d21a5dTest
https://pubmed.ncbi.nlm.nih.gov/35269750Test -
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المؤلفون: Dandan, Yan, Xiaowei, Xu, Xuetao, Wang, Xinjie, Zhang, Xiufang, Zhi, Hong, Wang, Yuqing, Zhang, Jianbo, Shu
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(2)
مصطلحات موضوعية: Developmental Disabilities, Mutation, Humans, Infant, Succinate-Semialdehyde Dehydrogenase, Child, Amino Acid Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::641d6fb5abc3dc31bcd25b52914db957Test
https://pubmed.ncbi.nlm.nih.gov/35076924Test -
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المؤلفون: Chiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont, Natalia Juliá Palacios, Inés Podzamczer-Valls, Nuria Gutiérrez Cruz, María Rosario Domingo Jiménez, Salvador Ibáñez Micó, Miguel Tomás Vila, Kathrin Jeltsch, Oya Kuseyri Hübschmann, Thomas Opladen, Ramón Velázquez Fragua, Teresa Gómez, Oscar Alcoverro Fortuny, Inmaculada García Jiménez, Eduardo López Laso, Ana Roche Martínez, Jordi Muchart López, Àngels Garcia-Cazorla
المصدر: Neuroradiology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: Monoamines, Inherited neurotransmitter disorders, Neurotransmitter Agents, amino acids, neuroimaging, Brain, Brain volumetric study, Neuroimaging, monoamines, brain volumetric study, volumetric deficit, Magnetic Resonance Imaging, Humans, Amino acids, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Volumetric deficit, Succinate-Semialdehyde Dehydrogenase, Cardiology and Cardiovascular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0092aa4fe206f265d43455c6ac0bdecdTest
https://hdl.handle.net/11573/1670737Test -
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المؤلفون: Kirt Martin, Alice McConnell, Sarah H. Elsea
المصدر: Journal of child neurology. 36(13-14)
مصطلحات موضوعية: Internationality, Rare Diseases, Databases, Factual, Developmental Disabilities, Pediatrics, Perinatology and Child Health, Prevalence, Humans, Loss of Heterozygosity, Neurology (clinical), Succinate-Semialdehyde Dehydrogenase, Child, Amino Acid Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df740cbbccf1a8495911455a33fcfa55Test
https://pubmed.ncbi.nlm.nih.gov/34882073Test