المؤلفون: Choy, Nicole, Wang, Stephani, Abbona, Pablo, Leffler, Dale, Kimonis, Virginia

المصدر: European Journal of Medical Genetics. 65(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Cardiovascular, Neurodegenerative, Heart Disease, Aetiology, 2.1 Biological and endogenous factors, Cardiomyopathies, Cell Cycle Proteins, Frontotemporal Dementia, Humans, Mutation, Myositis, Inclusion Body, Osteitis Deformans, Valosin Containing Protein, Hereditary inclusion body myopathy, Paget's disease of bone, Frontotemporal dementia, Cardiomyopathy, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6th1830x

المؤلفون: Greta Asadauskaitė, Ramunė Vilimienė, Vytautas Augustinavičius, Birutė Burnytė

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: VCP gene, VCP related disease, inclusion body myopathy, multisystem proteinopathy, degenerative disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1290960/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/a3d1ad10f6be4ca1a342eecb2505b99b

المؤلفون: Diniz, Gulden^Aff2, Düzenli, Neslihan^Aff3, Ertem, Ozge^Aff4, Ozyilmaz, Berk^Aff5

المساهمون: Diniz, Gulden, editor^Aff1

المصدر: Clues for Differential Diagnosis of Neuromuscular Disorders. :329-344

المؤلفون: Korb, Manisha K, Kimonis, Virginia E, Mozaffar, Tahseen

المصدر: Muscle & Nerve. 63(4)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Neurosciences, Aging, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Cell Cycle Proteins, Humans, Motor Neuron Disease, Mutation, Nuclear Matrix-Associated Proteins, RNA-Binding Proteins, Valosin Containing Protein, amyotrophic lateral sclerosis, inclusion body myopathy, multiple system proteinopathy, Paget disease of bone, VCP, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/66n1d9d7

المؤلفون: Cheng, Cheng, Weiss, Lan, Ta, Lac, Kimonis, Virginia

المصدر: Biochemical and Biophysical Research Communications. 523(4)

مصطلحات موضوعية: Biochemistry and Cell Biology, Medicinal and Biomolecular Chemistry, Chemical Sciences, Biological Sciences, Animals, Disease Models, Animal, Gene Expression Regulation, Gene Knock-In Techniques, Mice, Mutant Strains, Muscle, Skeletal, Mutant Proteins, RNA, Messenger, Valosin Containing Protein, Inclusion body myopathy, Mouse model, VCP, R155H mutation, RNA expression, Medical Biochemistry and Metabolomics, Biochemistry & Molecular Biology, Biochemistry and cell biology, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2k94x402

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المؤلفون: Plewa, Jake, Surampalli, Abhilasha, Wencel, Marie, Milad, Merit, Donkervoort, Sandra, Kimonis, Virginia, Mozaffar, Tahseen, Caiozzo, Vincent, Goyal, Namita

المصدر: Neuromuscular Disorders. 28(9)

مصطلحات موضوعية: Dynamometry, IBMFRS, IBMPFD, Inclusion Body Myopathy, Paget disease, VCP, Adult, Cross-Sectional Studies, Female, Frontotemporal Dementia, Humans, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle, Mutation, Myositis, Inclusion Body, Osteitis Deformans, Severity of Illness Index, Valosin Containing Protein

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5zp473k6

المؤلفون: Al-Tahan, Sejad, Al-Obeidi, Ebaa, Yoshioka, Hiroshi, Lakatos, Anita, Weiss, Lan, Grafe, Marjorie, Palmio, Johanna, Wicklund, Matt, Harati, Yadollah, Omizo, Molly, Udd, Bjarne, Kimonis, Virginia

المصدر: Neuromuscular disorders : NMD. 28(6)

مصطلحات موضوعية: Humans, Osteitis Deformans, Muscular Diseases, Parkinson Disease, Amyotrophic Lateral Sclerosis, Genetic Predisposition to Disease, Pedigree, Mutation, Missense, Adult, Aged, Middle Aged, Male, Valosin Containing Protein, Inclusion body myopathy, Novel VCP mutations, Paget's disease of bone, Parkinson's disease, VCP, p97, Genetics, Neurosciences, Clinical Research, Acquired Cognitive Impairment, Aging, Rare Diseases, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Neurological, Neurology & Neurosurgery, Clinical Sciences, Medical Physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4wq370n6

المؤلفون: Gaspar, Balan Louis^Aff4, Vasishta, Rakesh Kumar^Aff4, Radotra, Bishan Dass^Aff5

المساهمون: Gaspar, Balan Louis^Aff1, Vasishta, Rakesh Kumar^Aff2, Radotra, Bishan Dass^Aff3

المصدر: Myopathology : A Practical Clinico-pathological Approach to Skeletal Muscle Biopsies. :99-102