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1دورية أكاديمية
المؤلفون: Kimonis, Virginia E, Mehta, Sarju G, Fulchiero, Erin C, Thomasova, Dana, Pasquali, Marzia, Boycott, Kym, Neilan, Edward G, Kartashov, Alex, Forman, Mark S, Tucker, Stuart, Kimonis, Katerina, Mumm, Steven, Whyte, Michael P, Smith, Charles D, Watts, Giles DJ
المصدر: American Journal of Medical Genetics Part A, vol 146A. (6)
مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Muscular Dystrophy, Dementia, Brain Disorders, Neurosciences, Genetics, Rare Diseases, Aging, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Neurological, Musculoskeletal, Adenosine Triphosphatases, Adult, Cell Cycle Proteins, Cross-Sectional Studies, Family, Female, Humans, Inclusion Bodies, Male, Middle Aged, Muscle, Skeletal, Muscular Diseases, Osteitis Deformans, Pedigree, Retrospective Studies, Valosin Containing Protein, autosomal dominant, hereditary inclusion body myopathy, limb-girdle muscular dystrophy, Paget disease of bone, frontotemporal dementia, chromosome 9p13.3-12, VCP, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3t13p9jp
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2دورية 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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3دورية أكاديمية
المؤلفون: Kovach, Margaret J, Waggoner, Brook, Leal, Suzanne M, Gelber, David, Khardori, Romesh, Levenstien, Mark A, Shanks, Christy A, Gregg, Gregory, Al-Lozi, Muhammad T, Miller, Timothy, Rakowicz, Wojtek, Lopate, Glenn, Florence, Juliane, Glosser, Guila, Simmons, Zachary, Morris, John C, Whyte, Michael P, Pestronk, Alan, Kimonis, Virginia E
المصدر: Molecular Genetics and Metabolism. 74(4)
مصطلحات موضوعية: Rare Diseases, Dementia, Acquired Cognitive Impairment, Genetics, Neurodegenerative, Brain Disorders, Clinical Research, Adult, Aged, Brain, Child, Chromosome Mapping, Chromosomes, Human, Pair 9, Female, Genes, Dominant, Genetic Linkage, Haplotypes, Humans, Male, Microsatellite Repeats, Middle Aged, Molecular Sequence Data, Muscle, Skeletal, Myositis, Inclusion Body, Osteitis Deformans, Pedigree, autosomal dominant, hereditary inclusion body myopathy, Paget disease of bone, frontotemporal dementia, amyotropic lateral sclerosis, limb-girdle-muscular dystrophy, rimmed vacuoles, IBM2, chromosome 9p13.3-12, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/66q2534r
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4مورد إلكتروني
المؤلفون: Kovach, MJ
المصدر: Molecular genetics and metabolism; vol 74, iss 4, 458-475; 1096-7192
مصطلحات الفهرس: Muscle, Skeletal, Brain, Chromosomes, Human, Pair 9, Humans, Osteitis Deformans, Myositis, Inclusion Body, Dementia, Chromosome Mapping, Pedigree, Microsatellite Repeats, Haplotypes, Genes, Dominant, Molecular Sequence Data, Adult, Aged, Middle Aged, Child, Female, Male, Genetic Linkage, autosomal dominant, hereditary inclusion body myopathy, Paget disease of bone, frontotemporal dementia, amyotropic lateral sclerosis, limb-girdle-muscular dystrophy, rimmed vacuoles, IBM2, chromosome 9p13.3-12, Brain Disorders, Genetics, Neurodegenerative, Acquired Cognitive Impairment, Clinical Research, Rare Diseases, Genetics & Heredity, Clinical Sciences, article