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
Glial fibrillary acidic protein is pathologically modified in Alexander disease.
Lin NH et al.
The Journal of Biological Chemistry, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational 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
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.
Battaglia RA et al.
Elife, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.
Kubo A et al.
The Journal of Dermatology, 2013
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.
Juric-Sekhar G et al.
Acta Neuropathologica, 2012
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
Ohnari K et al.
Journal of Neurology, 2007
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R et al.
Human Genetics, 2006
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
Gene expression analysis in mice with elevated glial fibrillary acidic protein and Rosenthal fibers reveals a stress response followed by glial activation and neuronal dysfunction.
Hagemann TL et al.
Human Molecular Genetics, 2005
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R 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 findings in symptomatic and pre-symptomatic Alexander disease patients.
Gorospe JR et al.
Neurology, 2002
Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes.
Matej R et al.
Clinical Neuropathology, 0