Associated Papers
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
Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.
Kokaly N et al.
Journal of Clinical Medicine, 2025
Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.
Messing A et al.
Neurology. Genetics, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Establishment and Use of Primary Cultured Astrocytes from Alexander Disease Model Mice.
Kubota Y et al.
International Journal of Molecular Sciences, 2024
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 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
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Anis S et al.
Neurogenetics, 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
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
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
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
Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.
Zhang W et al.
Frontiers in Chemistry, 2021
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.
Grossi A et al.
Frontiers in Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling].
Matsuyama Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 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
Towards genomic database of Alexander disease to identify variations modifying disease phenotype.
Yasuda R et al.
Scientific Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Reduced cerebrospinal fluid monoamines in Alexander's disease: a clue to a symptomatic therapy.
Casarejos MJ et al.
European Journal of Neurology, 2018
A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.
Matsumoto A et al.
Brain & Development, 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
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.
Lee SH et al.
Bmc Neurology, 2017
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever.
Van Poucke M et al.
European Journal of Human Genetics : Ejhg, 2016
An In Vivo Pharmacological Screen Identifies Cholinergic Signaling as a Therapeutic Target in Glial-Based Nervous System Disease.
Wang L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
High-Throughput Screening for Drugs that Modulate Intermediate Filament Proteins.
Sun J et al.
Methods in Enzymology, 2016
Nitric oxide mediates glial-induced neurodegeneration in Alexander disease.
Wang L et al.
Nature Communications, 2015
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.
Ferreira MC et al.
European Journal of Medical Genetics, 2015
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease.
Yoshida T et al.
Journal of Human Genetics, 2013
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
Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran.
Ashrafi MR et al.
Iranian Journal of Pediatrics, 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
GFAP expression as an indicator of disease severity in mouse models of Alexander disease.
Jany PL et al.
Asn Neuro, 2013
[A case of Alexander disease suspected juvenile-onset and exacerbating after long stationary state].
Nagaishi A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation.
Yoshida T et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2012