Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.
Bachetti T et al.
Molecular Genetics and Metabolism, 2026
Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.
Messing A et al.
Neurology. Genetics, 2025
Morphological Characteristics and Extracellular Matrix Abnormalities in Astrocytes Derived From iPSCs of Children With Alexander Disease.
Yi H et al.
Cns Neuroscience & Therapeutics, 2025
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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.
Yang AW et al.
Molecular Biology of the Cell, 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
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
Alfadhel M et al.
Frontiers in Pediatrics, 2021
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.
Battaglia RA et al.
Elife, 2019
Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.
Wada Y et al.
Journal of the Neurological Sciences, 2013
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
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
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
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R et al.
Annals of Neurology, 2005
[An atypical presentation of Infantile Alexander disease lacking macrocephaly].
Esmer C et al.
Boletin Medico Del Hospital Infantil De Mexico, 0