(Q48461247)

11 February 2018

title

Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle. (English)

1 reference

11 February 2018

author

Jan Van Weering

14

1 reference

11 February 2018

Vivi Heine

15

1 reference

11 February 2018

Huibert D. Mansvelder

20

1 reference

11 February 2018

Truus E M Abbink

16

Truus E M Abbink

1 reference

11 February 2018

Nienke L Postma

4

Nienke L Postma

1 reference

11 February 2018

Gert C Scheper

17

Gert C Scheper

1 reference

11 February 2018

Emiel Polder

6

Emiel Polder

1 reference

11 February 2018

Ilja Boor

18

Ilja Boor

1 reference

11 February 2018

author name string

Mohit Dubey

1

1 reference

11 February 2018

Marianna Bugiani

2

1 reference

11 February 2018

Margreet C Ridder

3

1 reference

11 February 2018

Eelke Brouwers

5

1 reference

11 February 2018

J Gerbren Jacobs

7

1 reference

11 February 2018

Johannes C Baayen

8

1 reference

11 February 2018

Jan Klooster

9

1 reference

11 February 2018

Maarten Kamermans

10

1 reference

11 February 2018

Romy Aardse

11

1 reference

11 February 2018

Christiaan P J de Kock

12

1 reference

11 February 2018

Marien P Dekker

13

1 reference

11 February 2018

Johannes C Lodder

19

1 reference

11 February 2018

Marjo S van der Knaap

21

1 reference

11 February 2018

publication date

4 December 2014

1 reference

11 February 2018

published in

Annals of Neurology

1 reference

11 February 2018

volume

77

1 reference

11 February 2018

issue

1

1 reference

11 February 2018

page(s)

114-131

1 reference

11 February 2018

Megalencephalic leukodystrophy in an Asian Indian ethnic group

cites work

1 reference

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

21 January 2018

1 reference

Childhood white matter disorders: quantitative MR imaging and spectroscopy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

MLC1: a novel protein in distal astroglial processes

21 January 2018

1 reference

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.

21 January 2018

1 reference

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

21 January 2018

1 reference

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

21 January 2018

1 reference

PerlPrimer: cross-platform, graphical primer design for standard, bisulphite and real-time PCR.

21 January 2018

1 reference

Visible fluorescent detection of proteins in polyacrylamide gels without staining

21 January 2018

1 reference

Glial-conditional deletion of aquaporin-4 (Aqp4) reduces blood-brain water uptake and confers barrier function on perivascular astrocyte endfeet

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization of the hyperpolarization-activated chloride current in dissociated rat sympathetic neurons.

21 January 2018

1 reference

Sevenfold-reduced osmotic water permeability in primary astrocyte cultures from AQP-4-deficient mice, measured by a fluorescence quenching method

21 January 2018

1 reference

Re-expression of the intermediate filament nestin in reactive astrocytes.

21 January 2018

1 reference

S100B expression defines a state in which GFAP-expressing cells lose their neural stem cell potential and acquire a more mature developmental stage

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

TRPV4 calcium entry channel: a paradigm for gating diversity.

21 January 2018

1 reference

Ion channels in vascular endothelium

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice

21 January 2018

1 reference

Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism

21 January 2018

1 reference

Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

21 January 2018

1 reference

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

21 January 2018

1 reference

Heterogeneity of astrocytic form and function

21 January 2018

1 reference

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

21 January 2018

1 reference

A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24307

1 reference

11 February 2018

PubMed ID

25382142

1 reference

11 February 2018