Associated Papers
Natural History and Prognostic Factors in Pediatric Alexander Disease: A Cohort Study.
Zhang J et al.
Pediatric Neurology, 2026
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease.
Waldman AT et al.
Annals of Clinical and Translational Neurology, 2026
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.
Bachetti T et al.
Molecular Genetics and Metabolism, 2026
Neurological manifestations and clinical outcomes in pediatric Alexander disease: single-center cohort and identification of novel GFAP variants.
Suthar R et al.
Brain & Development, 2025
Mutations in GFAP Alter Early Lineage Commitment of Organoids.
Dykstra W et al.
Glia, 2025
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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Glial fibrillary acidic protein is pathologically modified in Alexander disease.
Lin NH et al.
The Journal of Biological Chemistry, 2024
Acquisition and Loss of Developmental Milestones and Time to Disease-Related Outcomes in Cerebral Alexander Disease.
Joung J et al.
Journal of Child Neurology, 2023
Fetal-onset Alexander disease with radiological-neuropathological correlation.
Devos J et al.
Pediatric Radiology, 2023
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
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Alexander disease: models, mechanisms, and medicine.
Hagemann TL
Current Opinion in Neurobiology, 2022
Case report: Alexander's disease with "head drop" as the main symptom and literature review.
Yuan Y et al.
Frontiers in Neurology, 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
Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease.
Heaven MR et al.
The Journal of Biological Chemistry, 2019
A Case of Juvenile Alexander Disease Presenting as Microcephaly.
Gowda VK et al.
Indian Journal of Pediatrics, 2019
Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes.
Jones JR et al.
Cell Reports, 2018
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Knuutinen O et al.
Neuropediatrics, 2018
Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease.
Wang L et al.
Nature Communications, 2018
Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes.
Gómez-Pinedo U et al.
Frontiers in Neurology, 2017
The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP.
Lin NH et al.
Molecular Biology of the Cell, 2016
Atypical MRI features in familial adult onset Alexander disease: case report.
Liu Y et al.
Bmc Neurology, 2016
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.
Tonduti D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.
Ferreira MC et al.
European Journal of Medical Genetics, 2015
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
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.
Horzinski L et al.
Plos One, 2009
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.
van der Voorn JP et al.
Neuroradiology, 2009
Clinical and genetic study in Chinese patients with Alexander disease.
Ye Wu et al.
Journal of Child Neurology, 2008
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
The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells.
Yoshida T et al.
Journal of Human Genetics, 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
Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality.
Nobuhara Y et al.
Neurology, 2004
Alexander disease: a leukodystrophy caused by a mutation in GFAP.
Johnson AB
Neurochemical Research, 2004
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.
Suzuki Y et al.
Brain & Development, 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
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Rodriguez D et al.
American Journal of Human Genetics, 2001