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1Academic Journal
المؤلفون: Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman, James Y Garbern, Grace M Hobson, James R Lupski
المصدر: PLoS Genetics, Vol 11, Iss 3, p e1005050 (2015)
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Michael E. Shy, Agnes Jaâni, Karen Krajewski, Marina Gr, Richard A. Lewis, Jun Li, Rosemary R. Shy, Janne Balsamo, Jack Lilien, James Y. Garbern, John Kamholz
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.331.9155; http://brain.oxfordjournals.org/content/early/2004/01/07/brain.awh048.full.pdf
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3
المؤلفون: Peter Kuzman, Jennifer A. Barrie, Fredrik I. Gruenenfelder, James Y. Garbern, M. C. McCulloch, Klaus-Armin Nave, Gemma Thomson, Ruth M. Stassart, Mark McLaughlin, Jacques Penderis, Julia M. Edgar, Ian R. Griffiths
المصدر: Brain
مصطلحات موضوعية: Male, 0301 basic medicine, leukodystrophy, Pathology, medicine.medical_specialty, Pelizaeus-Merzbacher Disease, Mice, Transgenic, Biology, 03 medical and health sciences, Myelin, 0302 clinical medicine, Neural Stem Cells, medicine, Animals, Humans, Axon, Myelin Proteolipid Protein, Myelin Sheath, CNS hypomyelination, Leukodystrophy, Brain, Pelizaeus–Merzbacher disease, Original Articles, central nervous system, medicine.disease, axon degeneration, Neural stem cell, 3. Good health, Transplantation, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, nervous system, Mutation, Neurology (clinical), Stem cell, oligodendrocyte precursor, dysmyelination, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: James Y. Garbern, José Francisco da Silva Franco, Gen Nishimura, Melanie A. Knight, Débora Romeo Bertola, Asako Takanohashi, Raphael Schiffmann, Chong Ae Kim, Maria Rita Passos-Bueno, Rachel Sayuri Honjo, Kinya Ishikawa, Pelin Ozlem Simsek-Kiper, Margaret Timmons, Yuko Segawa, Hirofumi Ohashi, Kenneth H. Fischbeck, Cas Simons, Takanori Yokota, Long Guo, Alan Boyde, Carlos Ferreira, Noriko Miyake, Shiro Ikegawa, Zheng Wang, J. Spranger, Guilherme L. Yamamoto, Adeline Vanderver, Asuka Saito, Yoichiro Nishida, Naomichi Matsumoto, Andrew B. Singleton, Camila Manso Musso, Ryan J. Taft, Bryan R. Lajoie, Amy Pizzino, Pamela Gehron Robey, Li Yan, Satoru Ishibashi
المصدر: American journal of human genetics. 104(5)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Lineage (genetic), Adolescent, Biology, Compound heterozygosity, medicine.disease_cause, Osteochondrodysplasias, Leukoencephalopathy, Colony stimulating factor 1 receptor, 03 medical and health sciences, Mice, Young Adult, 0302 clinical medicine, Leukoencephalopathies, Report, Genetics, medicine, Animals, Humans, Genetics (clinical), Alleles, Mice, Knockout, Mutation, Brain, medicine.disease, Metaphyseal dysplasia, 030104 developmental biology, Phenotype, Dysplasia, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Child, Preschool, Hereditary diffuse leukoencephalopathy with spheroids, Female, 030217 neurology & neurosurgery, Osteosclerosis
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المؤلفون: Marion E. Hodes, E. P. Bosch, Wendy H. Raskind, Anders A. F. Sima, Stephen R. Dlouhy, Jean-Michel Vallat, Michael E. Shy, Franca Cambi, John Kamholz, Richard A. Lewis, George H. Kraft, Thomas D. Bird, James Y. Garbern, Wendy B. Macklin
المصدر: Annals of the New York Academy of Sciences. 883(1)
مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_specialty, Proteolipid protein 1, Pelizaeus-Merzbacher Disease, Protein Conformation, Nonsense mutation, Molecular Sequence Data, Biology, Gene mutation, medicine.disease_cause, Nerve Fibers, Myelinated, General Biochemistry, Genetics and Molecular Biology, Gene product, Mice, History and Philosophy of Science, Internal medicine, medicine, Missense mutation, Animals, Humans, Family, Amino Acid Sequence, Peripheral Nerves, Myelin Proteolipid Protein, Genetics, Mutation, General Neuroscience, medicine.disease, Peripheral neuropathy, medicine.anatomical_structure, Endocrinology, Peripheral nervous system, lipids (amino acids, peptides, and proteins), Female
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المؤلفون: Malek I. Makki, Tori Lafleur, Jeffrey A. Stanley, John Kamholz, Jeremy J. Laukka, James Y. Garbern
المصدر: Journal of Neuroscience Research. 92:1723-1732
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Proteolipid protein 1, business.industry, Pelizaeus–Merzbacher disease, Splenium, Gene mutation, medicine.disease, Corpus callosum, White matter, Cellular and Molecular Neuroscience, medicine.anatomical_structure, Fractional anisotropy, medicine, business, Diffusion MRI
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المؤلفون: James Y. Garbern, John Kamholz, Jeffrey A. Stanley, Jeremy J. Laukka, Alexander Gow, Angela Trepanier, Tori Lafleur, Grace M. Hobson
المصدر: Journal of the Neurological Sciences. 335:75-81
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Pelizaeus-Merzbacher Disease, Disease, Nerve Fibers, Myelinated, Article, Corpus Callosum, Young Adult, Image Processing, Computer-Assisted, medicine, Humans, Disabled Persons, Clinical severity, Child, Myelin Proteolipid Protein, White matter atrophy, medicine.diagnostic_test, business.industry, Leukodystrophy, Brain, Infant, Pelizaeus–Merzbacher disease, Magnetic resonance imaging, Middle Aged, medicine.disease, Quantitative measure, Neurology, Child, Preschool, Mutation, Female, Neurology (clinical), Nervous System Diseases, business
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المؤلفون: Rosa Rademakers, Russell H. Swerdlow, Jay A. van Gerpen, Alex Tselis, Alexandra M. Nicholson, Daniel F. Broderick, James Y. Garbern, Sigrun Roeber, Christian Wider, Keith A. Josephs, Oluf Andersen, Bradley Miller, Anne Börjesson-Hanson, Shinsuke Fujioka, Christina Sundal, Elizabeth A. Shuster, Jan O. Aasly, Zbigniew K. Wszolek, Bernardino Ghetti, Dennis W. Dickson, Ryan J. Uitti, Michael G. Heckman, Salvatore Spina, Matt Baker
المصدر: Neurology
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Neurology, Receptor, Macrophage Colony-Stimulating Factor, Autopsy, Biology, Text mining, Atrophy, Leukoencephalopathies, medicine, Humans, business.industry, Brain, Articles, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Sagittal plane, Hyperintensity, CSF1R gene, medicine.anatomical_structure, Mutation, Hereditary diffuse leukoencephalopathy with spheroids, Female, Human medicine, Neurology (clinical), business
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المؤلفون: Grace M. Hobson, James Y. Garbern
المصدر: Seminars in Neurology. 32:062-067
مصطلحات موضوعية: Male, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Ataxia, Pelizaeus Merzbacher like disease, Pelizaeus-Merzbacher Disease, GJC2, Physical medicine and rehabilitation, medicine, Spastic, Humans, Spasticity, Muscle contracture, Paraplegia, business.industry, Pelizaeus–Merzbacher disease, medicine.disease, Magnetic Resonance Imaging, Hypotonia, nervous system diseases, Neurology, Mutation, Female, Neurology (clinical), medicine.symptom, business, Demyelinating Diseases
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المؤلفون: Ling Yi, Stephen G. Kaler, Marina L. Kennerson, Anthony Donsante, James Y. Garbern, Julian F.B. Mercer
المصدر: Human Molecular Genetics. 21:1794-1807
مصطلحات موضوعية: Valosin-containing protein, Endocytic cycle, ATP7A, Occipital horn syndrome, Cell Cycle Proteins, Protein Structure, Secondary, Valosin Containing Protein, Genetics, medicine, Humans, Motor Neuron Disease, Amyotrophic lateral sclerosis, Cation Transport Proteins, Molecular Biology, Alleles, Genetics (clinical), Adenosine Triphosphatases, Motor Neurons, biology, Cell Membrane, Articles, General Medicine, Fibroblasts, Motor neuron, medicine.disease, Endocytosis, Cell biology, Protein Transport, HEK293 Cells, medicine.anatomical_structure, Biochemistry, Copper-Transporting ATPases, Mutation, biology.protein, Menkes disease, Intracellular, Protein Binding, trans-Golgi Network
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المؤلفون: Daniel F. Broderick, Nicole A. Finch, Matt Baker, Alexandra I. Soto-Ortolaza, Nicola J. Rutherford, Aleksandra Wojtas, Hans A. Kretzschmar, Jennifer Adamson, Jan O. Aasly, Rosa Rademakers, Bradley F. Boeve, Jay A. van Gerpen, Neill R. Graff-Radford, Alexandros Tselis, Zbigniew K. Wszolek, James Y. Garbern, James F. Meschia, Naomi Kouri, Russell H. Swerdlow, Bernardino Ghetti, Ryan J. Uitti, Pritam Das, Ronald C. Petersen, Owen A. Ross, Mariely DeJesus-Hernandez, Jennifer Lash, Nigel J. Cairns, Elizabeth A. Shuster, Christian Wider, Alexandra M. Nicholson, Sigrun Roeber, James MacKenzie, Dennis W. Dickson, Bradley Miller, Christina Sundal, Salvatore Spina, David S. Knopman, Shawn Levy
المصدر: Nature genetics
Nature Genetics, vol. 44, no. 2, pp. 200-205مصطلحات موضوعية: Adult, Male, Adolescent, Genetic Linkage, Molecular Sequence Data, Receptor, Macrophage Colony-Stimulating Factor, Biology, medicine.disease_cause, Article, Colony stimulating factor 1 receptor, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Exome, Phosphorylation, Exome sequencing, Aged, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, Mutation, Base Sequence, Parkinsonism, Autophosphorylation, Sequence Analysis, DNA, Middle Aged, Protein-Tyrosine Kinases, medicine.disease, Leukodystrophy, Globoid Cell, 3. Good health, Protein kinase domain, Cancer research, Hereditary diffuse leukoencephalopathy with spheroids, Female, Human medicine, Tyrosine kinase, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المصدر: Int J Pediatr Otorhinolaryngol Extra
مصطلحات موضوعية: medicine.medical_specialty, Ataxia, medicine.diagnostic_test, business.industry, Dichotic listening, Pelizaeus–Merzbacher disease, Disease, Nystagmus, Tympanometry, Audiology, medicine.disease, Article, Auditory brainstem response, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Medicine, medicine.symptom, Audiometry, business
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المؤلفون: Allon Goldberg, Lindsey J. Miller, Gerry E. Conti, Stacey L. Schepens, Carly E. Siskind, James Y. Garbern, Shawna M. E. Feely
المصدر: Journal of the Neurological Sciences. 298:91-95
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Article, Degenerative disease, Physical medicine and rehabilitation, Reaction Time, medicine, Postural Balance, Humans, Mobility Limitation, Cognitive decline, Dynamic balance, Gait, Aged, Balance (ability), Neurologic Examination, Dystonia, Reproducibility of Results, Chorea, Middle Aged, medicine.disease, Huntington Disease, Neurology, Disease Progression, Physical therapy, Female, Neurology (clinical), medicine.symptom, Psychology, human activities, Psychomotor Performance
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المؤلفون: Joanna M. Solowska, Peter W. Baas, James Y. Garbern
المصدر: Human Molecular Genetics. 19:2767-2779
مصطلحات موضوعية: Spastin, Hereditary spastic paraplegia, Loss of Heterozygosity, Dominant-Negative Mutation, Biology, Transfection, medicine.disease_cause, Microtubules, Models, Biological, Genetics, medicine, Humans, Protein Isoforms, Missense mutation, Molecular Biology, Cells, Cultured, Genetics (clinical), Loss function, Genes, Dominant, Microtubule severing, Adenosine Triphosphatases, Mutation, Base Sequence, Spastic Paraplegia, Hereditary, Autosomal dominant trait, Articles, General Medicine, medicine.disease, Protein Multimerization
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المؤلفون: Aki Itoh, James Y. Garbern, Tullia Lindsten, David E Pleasure, Kouji Wakayama, Makoto Horiuchi, Peter Bannerman, Takayuki Itoh, Kumi Kawai
المصدر: European Journal of Neuroscience. 30:2030-2041
مصطلحات موضوعية: Programmed cell death, Time Factors, Cellular differentiation, Apoptosis, Mice, chemistry.chemical_compound, Bcl-2-associated X protein, Gangliosides, In Situ Nick-End Labeling, medicine, Animals, RNA, Messenger, Antigens, Axon, Progenitor cell, Cells, Cultured, Myelin Sheath, bcl-2-Associated X Protein, Mice, Knockout, Cell Death, biology, Stem Cells, General Neuroscience, Brain, O Antigens, Cell Differentiation, Myelin Basic Protein, Optic Nerve, Molecular biology, Axons, Oligodendroglia, bcl-2 Homologous Antagonist-Killer Protein, medicine.anatomical_structure, Animals, Newborn, Gene Expression Regulation, nervous system, chemistry, Chondroitin sulfate proteoglycan, Proto-Oncogene Proteins c-bcl-6, biology.protein, Proteoglycans, Stem cell, Bcl-2 Homologous Antagonist-Killer Protein
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المصدر: Journal of Neuro-Ophthalmology. 29:180-186
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Visual acuity, genetic structures, Photophobia, Vision, Low, Disease, Retina, Blurred vision, Predictive Value of Tests, Electroretinography, Humans, Spinocerebellar Ataxias, Medicine, Macula Lutea, Hemeralopia, Eye Abnormalities, Retrospective Studies, medicine.diagnostic_test, business.industry, Eye Diseases, Hereditary, Middle Aged, medicine.disease, eye diseases, Ophthalmology, Child, Preschool, Disease Progression, Retinal Cone Photoreceptor Cells, Spinocerebellar ataxia, Female, sense organs, Neurology (clinical), medicine.symptom, business
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المصدر: Journal of the Neurological Sciences. 279:109-113
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Weakness, Ataxia, DNA Mutational Analysis, Mutation, Missense, Neural Conduction, Mothers, Connexins, Central nervous system disease, Dysarthria, Degenerative disease, Charcot-Marie-Tooth Disease, medicine, Humans, education, Language Disorders, education.field_of_study, Muscle Weakness, business.industry, Limb ataxia, Facial weakness, Brain, Genetic Diseases, X-Linked, medicine.disease, Magnetic Resonance Imaging, Surgery, Neurology, Child, Preschool, Connexin 32, Female, Neurology (clinical), medicine.symptom, business
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المصدر: American Journal of Medical Genetics Part A. :732-736
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Offspring, Genetic counseling, Genetic Counseling, Nerve Tissue Proteins, Penetrance, Biology, Polymerase Chain Reaction, Risk Factors, Genetics, Huntingtin Protein, Humans, Age of Onset, Allele, Predictive testing, Alleles, Genetics (clinical), Aged, DNA Primers, Base Sequence, Anticipation, Genetic, Nuclear Proteins, Middle Aged, Pedigree, Huntington Disease, Female, Age of onset, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
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المؤلفون: E. Mark Haacke, Zahid Latif, Zhen Wu, Madeswaran Selvan, Megha Maheshwari, Yulin Ge, Jiani Hu, Malek I. Makki, Robert I. Grossman, Omar Khan, Vivek Sehgal, James Y. Garbern, Yang Xuan
المصدر: Journal of Magnetic Resonance Imaging. 29:537-544
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Multiple Sclerosis, Iron, Iron deposition, Contrast Media, Brain mapping, Article, Lesion, Young Adult, Imaging, Three-Dimensional, Basal ganglia, Image Processing, Computer-Assisted, medicine, Humans, Radiology, Nuclear Medicine and imaging, Aged, Brain Mapping, medicine.diagnostic_test, Echo-Planar Imaging, business.industry, Multiple sclerosis, Brain, Magnetic resonance imaging, Middle Aged, Image Enhancement, medicine.disease, Magnetic Resonance Imaging, Susceptibility weighted imaging, Biomarker (medicine), Female, medicine.symptom, Nuclear medicine, business, Biomarkers
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المؤلفون: James Y. Garbern, Margaret R. Wallace, George Q. Perrin, Anthony T. Yachnis, David Muir, Lauren Fishbein, George H. DeVries, Susanne A. M. Thomson, Stacey L. Thomas, Karen Stephens
المصدر: Journal of Neuroscience Research. 85:1347-1357
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Lung Neoplasms, Neurofibromatosis 1, Angiogenesis, Blotting, Western, Transplantation, Heterologous, Schwann cell, Nerve Tissue Proteins, Mice, SCID, Mice, Cellular and Molecular Neuroscience, Plexiform neurofibroma, Cell Line, Tumor, medicine, Animals, Humans, Neurofibroma, Neurofibromatosis, Neurofibromin 1, biology, medicine.disease, Transplantation, medicine.anatomical_structure, Hypocellularity, ras Proteins, biology.protein, Female, Schwann Cells, Neoplasm Transplantation
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