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1
المؤلفون: Mathieu Lesort, Duy K. Duong, Sara J. Tallaksen-Greene, Henry L. Paulson, Roger L. Albin, Peter J. Detloff, Mary Y. Heng, Jesse M. Hunter, Alexander P. Osmand
المصدر: Human Molecular Genetics. 19:3702-3720
مصطلحات موضوعية: Autophagosome, Heterozygote, Huntingtin, Motor Activity, Receptors, Dopamine, Mice, Huntington's disease, Ubiquitin, Gene knockin, Glial Fibrillary Acidic Protein, Autophagy, Genetics, medicine, Animals, Gene Knock-In Techniques, Protein Structure, Quaternary, Molecular Biology, Genetics (clinical), Neurons, Serotonin Plasma Membrane Transport Proteins, biology, Glial fibrillary acidic protein, Articles, General Medicine, medicine.disease, Cell biology, Astrogliosis, Neostriatum, Disease Models, Animal, Protein Transport, Huntington Disease, Health, Mutation, biology.protein, Microtubule-Associated Proteins, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7894888240365b922b7350f07c76ea01Test
https://doi.org/10.1093/hmg/ddq285Test -
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المؤلفون: Mathieu Lesort, Mary Y. Heng, Andrew Kneynsberg, Roger L. Albin, Giselle Perry, Ashish Kumar, Thomas van Groen, Peter J. Detloff, Sara J. Tallaksen-Greene
المصدر: Human Molecular Genetics. 19:3354-3371
مصطلحات موضوعية: Male, Genetically modified mouse, Huntingtin, Mice, Transgenic, Mitochondrion, Biology, Pathogenesis, Cyclophilins, Mice, Huntington's disease, Genetics, medicine, Animals, Humans, Mitochondrial calcium uptake, Molecular Biology, Genetics (clinical), Mice, Knockout, Neurons, Biological Transport, Articles, General Medicine, medicine.disease, Mitochondria, Cell biology, Mice, Inbred C57BL, Disease Models, Animal, Huntington Disease, Mitochondrial permeability transition pore, Knockout mouse, Calcium, Female, Cyclophilin D
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6098dba8681acd79f0fc43043935b36Test
https://doi.org/10.1093/hmg/ddq247Test -
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المصدر: Human Molecular Genetics. 12:1621-1629
مصطلحات موضوعية: Aging, Cytoplasm, Time Factors, Active Transport, Cell Nucleus, Mice, Transgenic, Context (language use), Biology, Cell Line, Mice, Gene knockin, Genetics, medicine, Animals, NLS, Age of Onset, Nuclear export signal, Molecular Biology, Genetics (clinical), Cell Nucleus, Neurons, Behavior, Animal, Models, Genetic, Brain, Gene targeting, Biological Transport, General Medicine, Molecular biology, Cell biology, Cell nucleus, medicine.anatomical_structure, Nucleocytoplasmic Transport, Peptides, Nuclear localization sequence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c4eace4c22ec79fcd077d9fe1950ec8Test
https://doi.org/10.1093/hmg/ddg163Test -
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المؤلفون: Andrew B. Crouse, Jamie A. Cearley, Peter J. Detloff, Wei-Ming Chien, Xiao-Jiang Li, Roger L. Albin, Chin Hsing Lin, Songrong Ren, Sara J. Tallaksen-Greene, Walker S. Jackson
المصدر: Human Molecular Genetics. 10:137-144
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Lameness, Animal, Nerve Tissue Proteins, Striatum, Biology, Mice, Mice, Neurologic Mutants, Degenerative disease, Huntington's disease, Glial Fibrillary Acidic Protein, Genetics, medicine, Huntingtin Protein, Animals, Gliosis, Molecular Biology, Alleles, Growth Disorders, Genetics (clinical), Cell Nucleus, Inclusion Bodies, Behavior, Animal, Glial fibrillary acidic protein, Homozygote, Brain, Nuclear Proteins, Gene targeting, General Medicine, medicine.disease, Disease Models, Animal, Huntington Disease, Gene Targeting, Mutation, biology.protein, medicine.symptom, Peptides, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5954e86d1a3f2e9d4bcc59bb6742351Test
https://doi.org/10.1093/hmg/10.2.137Test -
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المؤلفون: Sara J. Tallaksen-Greene, Leslie K. Sprunger, Andrew Escayg, Miriam H. Meisler, Roger L. Albin
المصدر: Human Molecular Genetics. 8:471-479
مصطلحات موضوعية: Central Nervous System, RNA Splicing, Mutant, Nerve Tissue Proteins, Locus (genetics), Biology, Sodium Channels, Mice, Species Specificity, Gene mapping, Genetics, medicine, Animals, Humans, Muscle, Skeletal, Molecular Biology, Crosses, Genetic, Genetics (clinical), Dystonia, Mice, Inbred C3H, Splice site mutation, Sodium channel, Homozygote, Chromosome Mapping, General Medicine, medicine.disease, Phenotype, Mice, Mutant Strains, Mice, Inbred C57BL, Disease Models, Animal, Chromosome 3, NAV1.6 Voltage-Gated Sodium Channel, Mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41d8c942661e8e3a2326609face678a3Test
https://doi.org/10.1093/hmg/8.3.471Test -
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المؤلفون: Mauricio Montal, Miriam H. Meisler, Roger L. Albin, Stephen I. Levin, Jennifer A. Kearney, Amy R. Furay, Julie M. Jones, Maja Adamska, Georgius de Haan, Leslie K. Sprunger, David A. Buchner, Martin J. Stevens
المصدر: Human molecular genetics. 11(22)
مصطلحات موضوعية: Ataxia, RNA Splicing, Mutant, Congenic, Neural Conduction, Locus (genetics), Nerve Tissue Proteins, Biology, Sodium Channels, Mice, Animals, Congenic, Ranvier's Nodes, Genetics, medicine, Animals, Humans, RNA, Messenger, Allele, Muscle, Skeletal, Molecular Biology, Genetics (clinical), Alleles, Mice, Knockout, Mice, Inbred C3H, Movement Disorders, NAV1.2 Voltage-Gated Sodium Channel, Base Sequence, Sodium channel, General Medicine, Phenotype, Molecular biology, Mice, Mutant Strains, Mice, Inbred C57BL, NAV1.1 Voltage-Gated Sodium Channel, Alternative Splicing, Disease Models, Animal, NAV1.6 Voltage-Gated Sodium Channel, NAV1, Mutation, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71373b84bbea1d6d0b1958fa3f972670Test
https://pubmed.ncbi.nlm.nih.gov/12374766Test