(Q38053267)

27 August 2017

title

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis (English)

1 reference

megalencephalic leukoencephalopathy with subcortical cysts

27 August 2017

main subject

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1 reference

2

Ilja Boor

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27 August 2017

author name string

Marjo S van der Knaap

series ordinal

1

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27 August 2017

Raúl Estévez

series ordinal

3

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27 August 2017

publication date

1 November 2012

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27 August 2017

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27 August 2017

volume

11

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27 August 2017

issue

11

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27 August 2017

page(s)

973-985

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Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

27 August 2017

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van der Knaap's leukoencephalopathy: report of five new cases with emphasis on diffusion-weighted MRI findings

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A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

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Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings

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Megalencephalic Leukoencephalopathy With Subcortical Cysts

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Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation

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Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.

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Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients

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Cystic leukoencephalopathy in a megalencephalic child: clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings.

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Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature

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Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts

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Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

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Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

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7 January 2021

White matter attenuation and megalencephaly

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7 January 2021

Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts

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7 January 2021

Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study

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7 January 2021

Childhood white matter disorders: quantitative MR imaging and spectroscopy

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7 January 2021

Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI.

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7 January 2021

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course.

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7 January 2021

Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review

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7 January 2021

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

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7 January 2021

Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel

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7 January 2021

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

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7 January 2021

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

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7 January 2021

Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy

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7 January 2021

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

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7 January 2021

Megalencephalic leucoencephalopathy with subcortical cysts: a study of a Lebanese family and a review of the literature

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7 January 2021

A common mutation and a novel mutation in Japanese patients with van der Knaap disease

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7 January 2021

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

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7 January 2021

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.

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7 January 2021

Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC).

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7 January 2021

Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.

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7 January 2021

A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree

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7 January 2021

No missense mutation of WKL1 in a subgroup of probands with schizophrenia.

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Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

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A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.

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7 January 2021

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

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7 January 2021

The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain.

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7 January 2021

MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet

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7 January 2021

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.

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7 January 2021

Diversity of the Brain Dystrophin-Glycoprotein Complex.

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7 January 2021

Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex

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7 January 2021

Expression patterns of MLC1 protein in the central and peripheral nervous systems.

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7 January 2021

Water transport between CNS compartments: functional and molecular interactions between aquaporins and ion channels

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7 January 2021

Functional down-regulation of volume-regulated anion channels in AQP4 knockdown cultured rat cortical astrocytes

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7 January 2021

Role of glial cells in cerebral ischemia

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7 January 2021

The neurobiology of glia in the context of water and ion homeostasis

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7 January 2021

Mechanisms of cell volume regulation in hypo-osmolality

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7 January 2021

Swelling-activated ion channels: functional regulation in cell-swelling, proliferation and apoptosis

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7 January 2021

Molecular structure and physiological function of chloride channels

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7 January 2021

Amazing chloride channels: an overview

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7 January 2021

Pharmacological comparison of swelling-activated excitatory amino acid release and Cl- currents in cultured rat astrocytes

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7 January 2021

The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

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7 January 2021

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

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7 January 2021

TRPV4 exhibits a functional role in cell-volume regulation

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7 January 2021

Cloning and characterization of hepaCAM, a novel Ig-like cell adhesion molecule suppressed in human hepatocellular carcinoma

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7 January 2021

GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system

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7 January 2021

Cell adhesion molecules in the regulation of animal form and tissue pattern

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7 January 2021

Cell adhesion molecules in the CNS.

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7 January 2021

Seeking long-term relationship: axon and target communicate to organize synaptic differentiation

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7 January 2021

Polysialylated neural cell adhesion molecule promotes remodeling and formation of hippocampal synapses.

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7 January 2021

Neural recognition molecules of the immunoglobulin superfamily: signaling transducers of axon guidance and neuronal migration

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7 January 2021

MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation

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7 January 2021

Interaction of the immunoglobulin-like cell adhesion molecule hepaCAM with caveolin-1.

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7 January 2021

Caveolae, caveolins, cavins, and endothelial cell function: new insights.

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7 January 2021

HepaCAM induces G1 phase arrest and promotes c-Myc degradation in human renal cell carcinoma

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7 January 2021

Expression of hepaCAM and its effect on proliferation of tumor cells in renal cell carcinoma.

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7 January 2021

The immunoglobulin-like cell adhesion molecule hepaCAM induces differentiation of human glioblastoma U373-MG cells

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7 January 2021

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

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7 January 2021

Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models

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7 January 2021

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit

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7 January 2021

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

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7 January 2021

Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption

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7 January 2021

Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2.

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7 January 2021

A chloride channel widely expressed in epithelial and non-epithelial cells

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7 January 2021

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

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7 January 2021

Structural and functional analyses of a novel ig-like cell adhesion molecule, hepaCAM, in the human breast carcinoma MCF7 cells

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7 January 2021

Aquaporin-4 in the central nervous system: cellular and subcellular distribution and coexpression with KIR4.1

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7 January 2021

Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system

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7 January 2021

Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.

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7 January 2021

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

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7 January 2021

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

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7 January 2021

Leukoencephalopathies associated with macrocephaly

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7 January 2021

10.1016/S1474-4422(12)70192-8

Identifiers

DOI

1 reference

27 August 2017

1 reference