Associated Papers
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.
Heshmatzad K et al.
European Journal of Medical Research, 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
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Helman G et al.
Human Mutation, 2020
Towards genomic database of Alexander disease to identify variations modifying disease phenotype.
Yasuda R et al.
Scientific Reports, 2019
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease.
Yoshida T et al.
European Neurology, 2017
A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease.
Yasuda R et al.
Human Genome Variation, 2017
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
GFAP and its role in Alexander disease.
Quinlan RA et al.
Experimental Cell Research, 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
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
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.
Shiroma N et al.
Brain & Development, 2003
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Gorospe JR et al.
Neurology, 2002
A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.
Aoki Y et al.
Neuroscience Letters, 2001
Long-term follow-up of a case of adult-onset Alexander disease presenting with cognitive impairment as the initial symptom.
Kawai Y et al.
Neurology India, 0