Progressive gait and motor deficits in a rat model of Alexander disease.

Alexander Disease: A Literature Review for Clinicians.

Alexander disease mutations differentially sensitize glial fibrillary acidic protein (GFAP) to posttranslational modifications and network disruption by oxidants.

From scaffold to effector: reframing GFAP in neurodegeneration.

[A novel mutation causing adult Alexander disease presenting as cervical spine tumor].

Natural History and Prognostic Factors in Pediatric Alexander Disease: A Cohort Study.

Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.

Mutant glial fibrillary acidic protein reduces the capacity for glutamate uptake in hippocampal astrocytes.

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease.

Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander Disease.

Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants.

Alexander Disease Due to a Homozygous GFAP Variant.

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Neurological manifestations and clinical outcomes in pediatric Alexander disease: single-center cohort and identification of novel GFAP variants.

Progressive Spastic Paraparesis as the Dominant Manifestation of Adolescent-Onset Alexander Disease: Case Report and Literature Review.

The intermediate filament protein GFAP regulates mitochondrial fission in astrocytes.

Language Skills in Patients With Alexander Disease.

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective.

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation.

Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy.

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease.

The impact of vanishing white matter on unaffected family members.

The impact of leukodystrophies on parents' lives.

Targeting astrocytic CLC2(CLCN2) restores myelin regeneration through inhibition of SPP1/CD44 signaling pathway in leukoencephalopathy.

Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.

Mutations in GFAP Alter Early Lineage Commitment of Organoids.

Adult-Onset Alexander Disease: A Case Report and Literature Review of Glu207 Alterations.

Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.

Neuroglial Pathophysiology of Leukodystrophies.

Alexander's Disease: Potential Drug Targets and Future Directions.

Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy.

Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature.

Prevalence of Elevated Opening Pressure Measurements in Alexander Disease.

Diagnosing Alexander disease in adults.

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Bilateral vestibulopathy in Alexander disease type II- a case report.

Treatment of leukodystrophies: Advances and challenges.

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

GeneSetCart: assembling, augmenting, combining, visualizing, and analyzing gene sets.

"Frog face and strangulated medulla": neuroimaging phenotype in a novel mutation in GFAP gene causing adult onset Alexander disease.

Neuroglia pathology in genetic and epigenetic disorders of the central nervous system.

Neuroglia in leukodystrophies.

Case report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.

POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.

Deletions in Glial Fibrillary Acidic Protein Leading to Alterations in Intermediate Filament Assembly and Network Formation.

GFAP mutation and astrocyte dysfunction lead to a neurodegenerative profile with impaired synaptic plasticity and cognitive deficits in a rat model of Alexander disease.

[Mechanism of Microglial Surveillance and Protection against Alexander Disease Pathology].

A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis.

A multi-omics approach reveals impaired lipid metabolism and oxidative stress in a zebrafish model of Alexander disease.

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

Morphological Characteristics and Extracellular Matrix Abnormalities in Astrocytes Derived From iPSCs of Children With Alexander Disease.

Electroencephalogram-Guided General Anesthesia in a Pediatric Patient With Alexander's Disease: A Case Report.

Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.

Teaching NeuroImage: Ventricular Garlands in Late-Onset Alexander Disease.

Establishment and Use of Primary Cultured Astrocytes from Alexander Disease Model Mice.

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.

Tadpole Brainstem Atrophy in Adult-Onset Alexander Disease: A Case Report and Review of Literature.

Childhood-inherited white matter disorders with calcification.

Disorders with prominent posterior fossa involvement.

Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease.

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.

Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.

External Laryngeal Tremor in Adult-Onset Alexander Disease: A Case Report.

Molecular Mechanisms in the Design of Novel Targeted Therapies for Neurodegenerative Diseases.

A retrospective observational cohort study of the anesthetic management and outcomes of pediatric patients with Alexander disease undergoing lumbar puncture or magnetic resonance imaging.

Adult-Onset Alexander Disease With Late-Presenting Vestibulopathy: A Case Report.

Glial fibrillary acidic protein is pathologically modified in Alexander disease.

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.

Alexander disease with a novel GFAP insertion-deletion mutation mimicking progressive supranuclear palsy.

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease.

Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.

Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease.

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease.

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.

Induced pluripotent stem cell-based assays recapture multiple properties of human astrocytes.

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Type III intermediate filaments in redox interplay: key role of the conserved cysteine residue.

Medullary Hot-Cross Bun Sign in Adult-Onset Alexander Disease.

Large-scale gene expression changes in APP/PSEN1 and GFAP mutation models exhibit high congruence with Alzheimer's disease.

Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox.

Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter.

Prediction of clinical progression in nervous system diseases: plasma glial fibrillary acidic protein (GFAP).

Alexander disease genetics: Beyond GFAP exon sequencing?

Microglia sense astrocyte dysfunction and prevent disease progression in an Alexander disease model.

Quantitative diffusion imaging and genotype-by-sex interactions in a rat model of Alexander disease.

Acquisition and Loss of Developmental Milestones and Time to Disease-Related Outcomes in Cerebral Alexander Disease.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Acute onset of adult Alexander disease and the concept of GFAP toxicity.

Adult-onset Alexander disease among patients of Jewish Syrian descent.

Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.

Infant with Macrocephaly, Refractory Seizures, and a Leukodystrophy.

Adult-onset Alexander disease with unusual inflammatory features and a novel GFAP mutation in two patients.

Adult-onset Alexander disease with brainstem and cervical cord enhancing lesions.

Fetal-onset Alexander disease with radiological-neuropathological correlation.

A defined roadmap of radial glia and astrocyte differentiation from human pluripotent stem cells.

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.

Older adult-onset Alexander disease with atypical clinicoradiological features: a case report.

Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report.

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

Substitution of Glu to Lys at Codon 332 on the GFAP Gene Alone Is Causative for Adult-onset Alexander Disease.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.

Appraising the Role of Astrocytes as Suppliers of Neuronal Glutathione Precursors.

Developmental Profiles in Children and Young Adults with Alexander Disease.

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

Alexander disease: the road ahead.

STAT3 Drives GFAP Accumulation and Astrocyte Pathology in a Mouse Model of Alexander Disease.

Alexander disease: The story behind an eponym.

Type I Alexander disease: Update and validation of the clinical evolution-based classification.

Diagnostic features of type II fibrinoid leukodystrophy (Alexander disease) in a juvenile Beagle dog.

Early recognition of patients with leukodystrophies.

Psychiatric Onset Alexander Disease: An Important Challenge in Neuropsychiatric Diagnosis: A Case Report.

Coenzyme Q10: Role in Less Common Age-Related Disorders.

Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology.

Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation.

Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review.

Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.

Identification of association fibers using ex vivo diffusion tractography in Alexander disease brains.

Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress.

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.

Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report.

Juvenile Alexander Disease: A Rare Leukodystrophy.

Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene.

Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.

Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.

Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.

Novel Glial Fibrillary Acidic Protein Variant in a Probable Adult-Onset Alexander Disease.

A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.

Anastasis Drives Senescence and Non-Cell Autonomous Neurodegeneration in the Astrogliopathy Alexander Disease.

Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments.

Developmental delay and progressive seizures in 2-month-old child with diffuse MRI abnormalities.

Abnormal Ca2+ Signals in Reactive Astrocytes as a Common Cause of Brain Diseases.

GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.

Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease.

Isolated Myoclonus of the Vocal Folds in Alexander Disease.

Principles of Astrogliopathology.

Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.

Alexander disease: models, mechanisms, and medicine.

Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease With Severe Reactive Gliosis.

Type II Alexander disease with fragile X mental retardation 1 gene mutation.

Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment.

Neuropsychological Functioning in Alexander Disease: A Case Series.

Palato-Lingual Tremor in a Child With Juvenile-Onset Alexander Disease.

Visualizing the phenotype diversity: a case study of Alexander disease.

Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease.

A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle.

Clinical and radiological characteristics of older-adult-onset Alexander disease.

Area Postrema Syndrome as the Initial Presentation of Alexander Disease.

[Alexander disease: diversity of cell population and interactions between neuron and glia].

Teaching NeuroImage: Dorsal Medullary Lesions in Juvenile-Onset Alexander Disease.

GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant.

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.

Pathology of the neurovascular unit in leukodystrophies.

Does genetic anticipation occur in familial Alexander disease?

Pearls & Oy-sters: Adult-Onset Alexander Disease With Transient Swelling of the Medulla Oblongata.

Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.

Elevated GFAP isoform expression promotes protein aggregation and compromises astrocyte function.

Adult-onset Alexander disease mimicking multiple system atrophy predominant cerebellar ataxia.

Pexidartinib treatment in Alexander disease model mice reduces macrophage numbers and increases glial fibrillary acidic protein levels, yet has minimal impact on other disease phenotypes.

Ketogenic Diet Therapy for Intractable Epilepsy in Infantile Alexander Disease: A Small Case Series and Analyses of Astroglial Chemokines and Proinflammatory Cytokines.

Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.

Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies.

Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening.

A case of adult onset of Alexander disease with nocturnal painless burns, autonomic dysfunction, and peripheral nerve impairment.

Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6.

Long-term survival of a dog with Alexander disease.

Teaching NeuroImages: Neuroimaging in Adult-Onset Alexander Disease.

[Alexander disease as an explanation for long-term unexplained psychiatric symptoms in a young girl].

[A case of Alexander disease presented with dystonia of lower limb and decreased dopaminergic uptake in dopamine transporter scintigraphy].

Clinical characteristics of Alexander disease.

[Clinical characteristics and diagnostic criteria on Alexander disease].

Novel GFAP p. Glu206Ala Mutation in Alexander Disease with Decreased Dopamine Transporter Uptake.

Effects of curcumin on neurological diseases: focus on astrocytes.

Parkinsonism phenotype in a family with adult onset Alexander disease and a novel mutation of GFAP.

Epilepsy in children with leukodystrophies.

Recessively-Inherited Adult-Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene.

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms.

Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years.

Oculopalatal tremor following sequential medullary infarcts that did not cause hypertrophic olivary degeneration.

Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features.

[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling].

A case report of adult-onset Alexander disease clinically presenting as Parkinson's disease: is the comorbidity associated with genetic susceptibility?

Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.

Teaching Video NeuroImages: Palatal myoclonus in leukodystrophies: A clinical sign orienting to Alexander disease.

Refining the concept of GFAP toxicity in Alexander disease.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Neuroprotective effects of curcumin through autophagy modulation.

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease.