Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene

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Bibliographische Detailangaben
Veröffentlicht in:	Acta neuropathologica 2007-11, Vol.114 (5), p.543-545
Hauptverfasser:	Hinttala, Reetta, Karttunen, Vesa, Karttunen, Ari, Herva, Riitta, Uusimaa, Johanna, Remes, Anne M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alexander Disease - genetics Alexander Disease - pathology Alexander Disease - physiopathology Amino Acid Substitution - genetics Astrocytes - metabolism Astrocytes - pathology Atrophy - genetics Atrophy - pathology Atrophy - physiopathology Autopsy Brain - metabolism Brain - pathology Brain - physiopathology Disease Progression DNA Mutational Analysis Fatal Outcome Genetic Markers - genetics Genetic Predisposition to Disease - genetics Genotype Glial Fibrillary Acidic Protein - genetics Humans Magnetic Resonance Imaging Male Muscular Atrophy - genetics Muscular Atrophy - pathology Muscular Atrophy - physiopathology Mutation - genetics Nerve Fibers, Myelinated - metabolism Nerve Fibers, Myelinated - pathology Occipital Lobe - metabolism Occipital Lobe - pathology Occipital Lobe - physiopathology Phenotype Spinal Cord - metabolism Spinal Cord - pathology Spinal Cord - physiopathology
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