Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.
Messing A et al.
Neurology. Genetics, 2025
Case report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.
Ge S et al.
Frontiers in Neurology, 2025
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress.
Viedma-Poyatos Á et al.
Redox Biology, 2022
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.
van der Voorn JP et al.
Neuroradiology, 2009
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Caroli F et al.
Clinical Genetics, 2007
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
Ohnari K et al.
Journal of Neurology, 2007
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.
Gorospe JR et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
Alexander-disease mutation of GFAP causes filament disorganization and decreased solubility of GFAP.
Hsiao VC et al.
Journal of Cell Science, 2005
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R et al.
Annals of Neurology, 2005
Unusual variants of Alexander's disease.
van der Knaap MS et al.
Annals of Neurology, 2005
Alexander disease: a leukodystrophy caused by a mutation in GFAP.
Johnson AB
Neurochemical Research, 2004
Alexander disease: putative mechanisms of an astrocytic encephalopathy.
Mignot C et al.
Cellular and Molecular Life Sciences : Cmls, 2004
Alexander's disease: clinical, pathologic, and genetic features.
Johnson AB et al.
Journal of Child Neurology, 2003
Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease.
Brockmann K et al.
Journal of Neurology, 2003