CI-994 is a dual modulator of class I HDACs and Wnt/β-catenin signaling for the treatment of Alzheimer's disease.

Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Associated with the CSF1R p. (Ile843Thr) Variant: Clinical, Imaging, and Molecular Characterization.

Early subtypes and progressions of progressive supranuclear palsy: a data-driven brain bank study.

A Novel Radiographic and Genetic Variant of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Case Report.

Rare FN1 missense mutations indicate a protective role against Lewy body dementia in APOEε4 homozygous carriers.

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia mimicking adult-onset Krabbe disease.

Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.

Microglia replacement halts the progression of microgliopathy in mice and humans.

Mutations in the human CSF1R gene impact microglia's maintenance of brain white matter integrity.

Evaluating Glial Fibrillary Acidic Protein and Neurofilament Light as Potential Biomarkers for Spinocerebellar Ataxia 7.

Colony-stimulating factor-1 receptor-related disorder in the Hispanic population.

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

KIF5A variant in familial dystonia: A clinicogenetic study of a large Roma kindred.

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.

Microglia specific Csf1r haploinsufficiency induces depressive-like behaviors by promoting NLRP6/caspase-1 signaling in mice.

Phase 1, First-In-Human, Single-/Multiple-Ascending Dose Study of Iluzanebart in Healthy Volunteers.

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult-Onset Leukoencephalopathy.

Author Correction: Clinical spectrum of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia in individuals of Korean ancestry.

Development and validation of a sensitive sandwich ELISA against human PINK1.

Rescue of in vitro models of CSF1R-related adult-onset leukodystrophy by iluzanebart: mechanisms and therapeutic implications of TREM2 agonism.

Clinical spectrum of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia in individuals of Korean ancestry.

Progressive dementia and seizures as distinguishing features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

The effect of a dominant kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy on brain development and neuropathology.

Mapping the journey of patients and care partners living with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: developing a framework for improvements in care.

Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W.

Hematopoietic stem cell transplantation in leukodystrophies.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Global Presence and Penetrance of CSF1R-Related Disorder.

Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study.

Heterozygous missense CSF1R variants hamper in vitro CD34+-derived dendritic cell generation but not in vivo dendritic cell development.

Associations of mitochondrial genomic variation with successful neurological aging.

Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia.

Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment.

Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

Therapeutic potential of human microglia transplantation in a chimeric model of CSF1R-related leukoencephalopathy.

Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Estimation of pathological lesion stage from brain images.

Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.

Genome sequence analyses identify novel risk loci for multiple system atrophy.

An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders.

Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies.

Up Close and Personal with Adult-Onset Leukoencephalopathy.

miRNA family miR-29 inhibits PINK1-PRKN dependent mitophagy via ATG9A.

Neuroimaging of CSF1R-related Disorder.

TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.

Novel Neuroimaging Pattern in POLR3A-Related Disorder on 7T MRI.

Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium.

CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology.

Validation Study of the MDS Criteria for the Diagnosis of Multiple System Atrophy in the Mayo Clinic Brain Bank.

Case 317: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

Defects in Mitochondrial Biogenesis Drive Mitochondrial Alterations in PINK1-deficient Human Dopamine Neurons.

Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

Adult-Onset Leukoencephalopathy with Axonal Spheroid and Pigmented Glia: Different Histological Spectrums Presented in Autopsy Cases of Siblings and a Surgical Case of Stereotactic Biopsy.

Generation of a heterozygous and a homozygous CSF1R knockout line from iPSC using CRISPR/Cas9.

Report of A Family with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Without Mutations in CSF1R, AARS1 or AARS2.

A case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia presenting with alien hand syndrome.

A Unique Radiological Correlate of CSF1R Mutation: "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia - Sine Leukoencephalopathy".

Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes.

Chitotriosidase is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Masquerading Primary Progressive Aphasia.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) in an Indian Man.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene.

A novel CSF1R variant in a South Dakota family with CSF1R-related leukoencephalopathy.

Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.

The Primary Microglial Leukodystrophies: A Review.

A Rare Genetic Cause of Young Onset Rapidly Progressive Dementia- First Report from India.

A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.

Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.

Handwriting impairment in a case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a novel mutation in the CSF1R gene.

Novel CSF1R variant in adult-onset leukoencephalopathy masquerading as frontotemporal dementia: a follow-up study.

Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy.

Decreased CSF1R Signaling and the Accumulation of Reticular Pseudo-Drusen?

Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.

Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.

Teaching case 1-2020 - ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation - An unusual cause of dementia.

A case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) with a high antinuclear antibody titer.

Evaluation of CSF1R-related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria.

Microglial dyshomeostasis drives perineuronal net and synaptic loss in a CSF1R+/- mouse model of ALSP, which can be rescued via CSF1R inhibitors.

Three novel mutations in Chinese patients with CSF1R-related leukoencephalopathy.

Case report: 'AARS2 leukodystrophy'.

[Loss of homeostatic microglia in rare neurological disorders: implications for cell transplantation].

Diffusion-Weighted Imaging is Key to Diagnosing Specific Diseases.

Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism.

Proteolytic Shedding of Human Colony-Stimulating Factor 1 Receptor and its implication.

Pathologic basis of the preferential thinning of thecorpus callosum in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with an A792D mutation in the CSF1R gene in a Polish patient.

Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy.

Microglial reduction of colony stimulating factor-1 receptor expression is sufficient to confer adult onset leukodystrophy.

Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies.

Spinal Cord Involvement in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Altered features of monocytes in adult onset leukoencephalopathy with axonal spheroids and pigmented glia: A clue to the pathomechanism of microglial dyshomeostasis.

Microglial Homeostasis Requires Balanced CSF-1/CSF-2 Receptor Signaling.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - An unusual cause of dementia.

Biopsy histopathology in the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

A novel dominant-negative mutation of the CSF1R gene causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy.

Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.

An Autopsy Proven Case of CSF1R-mutant Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Premature Ovarian Failure.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case report.

[Retraction: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case presented brain calcification and corpus callosum atrophy from over 10 years before the onset of dementia].

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: Clinical and imaging characteristics.

AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease.

NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases.

Colony-Stimulating Factor 1 Receptor (CSF1R) Regulates Microglia Density and Distribution, but Not Microglia Differentiation In Vivo.

Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A.

AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.

Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).

Pathologic Correlation of Paramagnetic White Matter Lesions in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.

[Retraction:Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case presented brain calcification and corpus callosum atrophy from over 10 years before the onset of dementia].

Cognitive dysfunction and symptoms of movement disorders in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: lesion staging and dynamic changes of axons and microglial subsets.

A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation.

Emerging Roles for CSF-1 Receptor and its Ligands in the Nervous System.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases.