Associated Papers
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.
Bachetti T et al.
Molecular Genetics and Metabolism, 2026
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report.
Zardadi S et al.
Bmc Pediatrics, 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
[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling].
Matsuyama Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Knuutinen O et al.
Neuropediatrics, 2018
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.
Zang L et al.
Journal of Human Genetics, 2013
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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: 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 findings in symptomatic and pre-symptomatic Alexander disease patients.
Gorospe JR et al.
Neurology, 2002
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Rodriguez D et al.
American Journal of Human Genetics, 2001