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1دورية أكاديمية
المؤلفون: Proffit, JN, Osann, K, MacManus, B, Butler, MG, Kimonis, VE, Heinemann, J, Stevenson, D, Gold, JA
مصطلحات موضوعية: Genetics, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6pm9f7nt
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2دورية أكاديمية
المؤلفون: Steller, J, Gargus, JJ, Gibbs, LH, Hasso, AN, Kimonis, VE
المصدر: Neuropediatrics. 45(01)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Nutrition, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Exons, Follow-Up Studies, Humans, Male, Mutation, Phenotype, Pyruvate Dehydrogenase (Lipoamide), Pyruvate Dehydrogenase Complex Deficiency Disease, Neurosciences, Paediatrics and Reproductive Medicine, Neurology & Neurosurgery, Paediatrics
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4gw4n64g
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3دورية أكاديمية
المؤلفون: Gold, JA, Ruth, C, Osann, K, Flodman, P, McManus, B, Lee, HS, Donkervoort, S, Khare, M, Roof, E, Dykens, E, Milller, JL, Driscoll, DJ, Butler, MG, Heinemann, J, Cassidy, S, Kimonis, VE
المصدر: Genetics in Medicine. 15(11)
مصطلحات موضوعية: Genetics, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4813h4z7
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4دورية أكاديمية
المؤلفون: Weihl, CC, Benatar, M, Kimonis, VE, Shorter, J, Taylor, JP
المصدر: Neuromuscular Disorders. 23(9-10)
مصطلحات موضوعية: Genetics, Neurosciences, Rare Diseases, Neurodegenerative, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Clinical Sciences, Medical Physiology, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3zr877wx
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5دورية أكاديمية
المؤلفون: Kimonis, VE, Steller, J, Sahai, I, Grange, DK, Shoemaker, J, Zelaya, BM, Mandell, R, Shih, K, Shih, V
المصدر: Molecular Genetics and Metabolism. 107(1-2)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Nutrition, Clinical Trials and Supportive Activities, Clinical Research, Blood Chemical Analysis, Brain, Child, Diet, Protein-Restricted, Electroencephalography, Female, Fumarate Hydratase, Humans, Metabolism, Inborn Errors, Muscle Hypotonia, Mutation, Neuroimaging, Psychomotor Disorders, Fumarase, Fumarate hydratase, Fumaric aciduria, Developmental delay, Hypotonia, Ventriculomegaly, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8f3933kx
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6دورية أكاديمية
المؤلفون: Yin, HZ, Nalbandian, A, Hsu, C-I, Li, S, Llewellyn, KJ, Mozaffar, T, Kimonis, VE, Weiss, JH
المصدر: Cell death & disease. 3(8)
مصطلحات موضوعية: Spinal Cord, Motor Neurons, Animals, Humans, Mice, Amyotrophic Lateral Sclerosis, Disease Models, Animal, Peptides, DNA-Binding Proteins, Ubiquitin, Heterozygote, Mutation, Gene Knock-In Techniques, Frontotemporal Dementia, Intercellular Signaling Peptides and Proteins, motor neuron, SOD1, TDP-43, amyotrophic lateral sclerosis, animal models, Disease Models, Animal, Oncology and Carcinogenesis, Biochemistry and Cell Biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2m1222jw
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7دورية أكاديمية
المؤلفون: Steller, J, Fan, Y, Fox, M, Chang, R, Westerfield, BA, Batra, AS, Wang, RY, Dipple, K, Gallant, N, Pena, LS, Wang, H, McCabe, ER, Kimonis, VE
المصدر: MOLECULAR GENETICS AND METABOLISM. 102(3)
مصطلحات موضوعية: Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/40d8v617
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8دورية أكاديمية
المؤلفون: Vesa, J, Su, H, Watts, GD, Krause, S, Walter, MC, Wallace, DC, Kimonis, VE
المصدر: JOURNAL OF INVESTIGATIVE MEDICINE. 58(1)
مصطلحات موضوعية: General Clinical Medicine, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5hw4q1n9
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9دورية أكاديمية
المؤلفون: Watts, GDJ, Thomasova, D, Ramdeen, SK, Fulchiero, EC, Mehta, SG, Drachman, DA, Weihl, CC, Jamrozik, Z, Kwiecinski, H, Kaminska, A, Kimonis, VE
المصدر: Clinical Genetics. 72(5)
مصطلحات موضوعية: Aging, Dementia, Acquired Cognitive Impairment, Brain Disorders, Neurodegenerative, Neurosciences, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Neurological, Adenosine Triphosphatases, Adult, Cell Cycle Proteins, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Models, Molecular, Mutation, Myositis, Inclusion Body, Osteitis Deformans, Pedigree, Valosin Containing Protein, chromosome 9p13.3-12, frontotemporal dementia, hereditary inclusion body myopathy, limb-girdle muscular dystrophy, Paget disease of bone, Valosin-containing protein, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/81c8k7t0
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10دورية أكاديمية
المؤلفون: Forman, MS, Mackenzie, IR, Markesbery, WR, Swanson, E, Cairns, NJ, Boyer, PJ, Jhaveri, BS, Karlawish, JH, McKeel, DW, Pestronk, A, Watts, GDJ, Smith, CD, Kimonis, VE
المصدر: JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY. 64(5)
مصطلحات موضوعية: Clinical Sciences, Neurosciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/04z7t07q