Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle

An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts

(2013) Gulsen Kocaman et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

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

(2013) Christel Depienne et al.   LANCET NEUROLOGY

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

(2013) Stefania Petrini et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

(2012) Angela Lanciotti et al.   HUMAN MOLECULAR GENETICS

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

(2012) Marjo S van der Knaap et al.   LANCET NEUROLOGY

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

(2012) Elena Jeworutzki et al.   NEURON

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

(2011) Tania López-Hernández et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Michal Geva et al.   BRAIN

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

(2011) Margreet C. Ridder et al.   BRAIN

Infant subcortical cystic leucomalacia: A distinct pathological entity resulting from impaired fluid handling

(2011) Waney Squier et al.   EARLY HUMAN DEVELOPMENT

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

(2011) Tania López-Hernández et al.   HUMAN MOLECULAR GENETICS

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

(2011) Anna Duarri et al.   NEUROBIOLOGY OF DISEASE

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

(2011) N. N. Haj-Yasein et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The β1 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

(2010) Maria S. Brignone et al.   HUMAN MOLECULAR GENETICS

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

(2009) Angela Lanciotti et al.   NEUROBIOLOGY OF DISEASE

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

(2008) A. Duarri et al.   HUMAN MOLECULAR GENETICS

Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Third Confirmed Case with Literature Review

(2008) Lili Miles et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY