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
Linking Cell Architecture to Mitochondrial Signaling in Neurodegeneration: The Role of Intermediate Filaments.
Marzetti E et al.
International Journal of Molecular Sciences, 2025
Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.
Kokaly N et al.
Journal of Clinical Medicine, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.
Messing A et al.
Neurology. Genetics, 2025
A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.
Sarusie MVK et al.
Human Molecular Genetics, 2024
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
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
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 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
Alexander disease: the road ahead.
Pajares MA et al.
Neural Regeneration Research, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 2023
GFAP serves as a structural element of tunneling nanotubes between glioblastoma cells and could play a role in the intercellular transfer of mitochondria.
Simone L et al.
Frontiers in Cell and Developmental Biology, 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
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
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
Alexander disease: models, mechanisms, and medicine.
Hagemann TL
Current Opinion in Neurobiology, 2022
Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease With Severe Reactive Gliosis.
Heaven MR et al.
Molecular & Cellular Proteomics : Mcp, 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
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.
Grossi A et al.
Frontiers in Genetics, 2021
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L et al.
Orphanet Journal of Rare Diseases, 2020
Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.
Paprocka J et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.
Battaglia RA et al.
Elife, 2019
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
Modeling Neurological Disorders with Human Pluripotent Stem Cell-Derived Astrocytes.
Suga M et al.
International Journal of Molecular Sciences, 2019
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE et al.
Intensive Care Medicine, 2019
Mitochondria Are Dynamically Transferring Between Human Neural Cells and Alexander Disease-Associated GFAP Mutations Impair the Astrocytic Transfer.
Gao L et al.
Frontiers in Cellular Neuroscience, 2019
An unusual GFAP mutation in a Taiwanese child with infantile Alexander disease.
Liang JS et al.
Pediatrics and Neonatology, 2018
GFAP Mutations in Astrocytes Impair Oligodendrocyte Progenitor Proliferation and Myelination in an hiPSC Model of Alexander Disease.
Li L et al.
Cell Stem Cell, 2018
Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease.
Wang L et al.
Nature Communications, 2018
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.
Lee SH et al.
Bmc Neurology, 2017
Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease.
Heaven MR et al.
Journal of Proteome Research, 2016
Nitric oxide mediates glial-induced neurodegeneration in Alexander disease.
Wang L et al.
Nature Communications, 2015
Astrocytic TDP-43 pathology in Alexander disease.
Walker AK et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
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
Magnetic resonance imaging "tigroid pattern" in Alexander disease.
Biancheri R et al.
Neuropediatrics, 2013
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