Disease: Megalencephalic leukoencephalopathy with subcortical cysts
- A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China
- A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred
- A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration
- A Mutation-Positive Child With Megalencephalic Leukoencephalopathy With Subcortical Cysts: Classical Imaging Findings
- A novel role for MLC1 in regulating astrocyte-synapse interactions
- A Novel Splice-site Mutation on the <em>MLC1</em> Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Turkish Patient
- A Novel Splice-site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Turkish Patient
- A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22
- A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community
- Alexander Disease
- An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
- Analysis of a child with megalencephalic leukoencephalopathy with subcortical cyst type 2B caused by HEPACAM variant
- Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts
- Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
- Astrocyte-mediated infantile-onset leukoencephalopathy mouse model
- Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies
- Astroglia in Leukodystrophies
- Bipolar disorder in megalencephalic leukoencephalopathy with subcortical cysts: a case report
- Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts
- Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy
- Clinical and radiological aspects of bilateral temporal abnormalities: pictorial essay
- Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population
- Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts
- Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit
- de novo interstitial deletions at the 11q23.3-q24.2 region
- Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy
- Dynamic local mRNA localization and translation occurs during the postnatal molecular maturation of perivascular astrocytic processes
- Ectopic positioning of Bergmann glia and impaired cerebellar wiring in Mlc1-over-expressing mice
- Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts
- Emergent White Matter Degeneration in the rTg-DI Rat Model of Cerebral Amyloid Angiopathy Exhibits Unique Proteomic Changes
- Epilepsy in children with leukodystrophies
- Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants
- Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis
- Girl With Progressive Head Enlargement and Gait Disturbance: Clinicoradiological Clues
- Glial Cell Adhesion Molecule (GlialCAM) Determines Proliferative versus Invasive Cell States in Glioblastoma
- GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy
- GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts
- HepaCAM associates with connexin 43 and enhances its localization in cellular junctions
- HepaCAM controls astrocyte self-organization and coupling
- Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts
- Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models
- Identification of a novel MLC1 mutation in a Chinese patient affected with megalencephalic leukoencephalopathy with subcortical cysts
- Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins
- Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
- Letter to the Editor: The Application of Interleukin-1 Antagonists in Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: Caution Warranted
- Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients
- Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl<sup>-</sup> channel function and trafficking
- Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy
- Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorder
- Megalencephalic Leucoencephalopathy [Van Der Knaap Disease] in a Non Agarwal Family
- Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration
- Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect
- Megalencephalic leukoencephalopathy with subcortical cysts
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC) - a case with clinical and magnetic resonance imaging (MRI) dissociation
- Megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) promotes glioblastoma cell invasion in the brain microenvironment
- Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain
- Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes
- Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit
- Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals
- Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes
- Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes
- MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE
- Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome
- Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective
- Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
- Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants
- Megalencephalic leukoencephalopathy with subcortical cysts: the importance of early diagnosis
- Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy
- Metabolic, endocrine, and other genetic disorders
- MLC1 protein: a likely link between leukodystrophies and brain channelopathies
- Mlc1-Expressing Perivascular Astrocytes Promote Blood-Brain Barrier Integrity
- Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
- Novel variants causing megalencephalic leukodystrophy in Sudanese families
- Plasma membrane localization of MLC1 regulates cellular morphology and motility
- Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families
- Psychotic attack during the clinical course of megalencephalic leukoencephalopathy with subcortical cysts: a case report
- Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts
- Selective expression of eGFP in mouse perivascular astrocytes by modification of the Mlc1 gene using T2A-based ribosome skipping
- Siblings with megalencephalic leukoencephalopathy with subcortical cysts van der Knaap disease
- Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies
- Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy
- Teaching NeuroImages: A child with macrocephaly and psychomotor development delay
- Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research
- The alpha7 integrin subunit in astrocytes promotes endothelial blood-brain barrier integrity
- The CaMKII/MLC1 Axis Confers Ca<sup>2+</sup>-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes
- The Effect of Interleukin-1 Antagonists on Brain Volume and Cognitive Function in Two Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts
- The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report
- The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India
- The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies
- Transcriptional network analysis of human astrocytic endfoot genes reveals region-specific associations with dementia status and tau pathology
- Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1
- Tumoural transformation in Van der Knaap syndrome
- Van der Knaap Disease
- Van der Knaap Disease (Vanishing White Matter) - Unusual Presentation in a Neonate: A Case Report
- Van der Knaap disease: a rare disease with atypical features
- Van der Knaap Disease: Megalencephalic Leukoencephalopathy with Subcortical Cysts
- Van Der Knaap Disease: Young Male with Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Case Report
- Varying perivascular astroglial endfoot dimensions along the vascular tree maintain perivascular-interstitial flux through the cortical mantle
- White matter abnormality in Jacobsen syndrome assessed by serial MRI
- Yield and Clinical Utility of Next-Generation Sequencing in Selected Patients With Lung Adenocarcinoma