No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Alexander Disease / genetics*
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Alexander Disease / pathology*
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Alexander Disease / physiopathology
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Amino Acid Substitution / genetics
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Astrocytes / metabolism
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Astrocytes / pathology*
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Atrophy / genetics
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Atrophy / pathology
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Atrophy / physiopathology
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Autopsy
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Brain / metabolism
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Brain / pathology
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Brain / physiopathology
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DNA Mutational Analysis
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Disease Progression
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Fatal Outcome
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics
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Genotype
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Glial Fibrillary Acidic Protein / genetics*
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Humans
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Magnetic Resonance Imaging
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Male
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Muscular Atrophy / genetics
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Muscular Atrophy / pathology
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Muscular Atrophy / physiopathology
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Mutation / genetics
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Nerve Fibers, Myelinated / metabolism
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Nerve Fibers, Myelinated / pathology*
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Occipital Lobe / metabolism
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Occipital Lobe / pathology*
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Occipital Lobe / physiopathology
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Phenotype
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Spinal Cord / metabolism
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Spinal Cord / pathology
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Spinal Cord / physiopathology
Substances
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Genetic Markers
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Glial Fibrillary Acidic Protein