Associated Papers
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Towards genomic database of Alexander disease to identify variations modifying disease phenotype.
Yasuda R et al.
Scientific Reports, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease.
Yasuda R et al.
Human Genome Variation, 2017
A conserved rod domain phosphotyrosine that is targeted by the phosphatase PTP1B promotes keratin 8 protein insolubility and filament organization.
Snider NT et al.
The Journal of Biological Chemistry, 2013
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
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
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
Alexander's disease in a neurologically normal child: a case report.
Guthrie SO et al.
Pediatric Radiology, 2003
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Gorospe JR et al.
Neurology, 2002