Megalencephalic Leukoencephalopathy with Subcortical Cysts Latest Advances

Dominant MLC-causing mutations alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex.

Journal: bioRxiv : the preprint server for biology

Published: September 02, 2025

Uncommon Allies: Van der Knaap Syndrome and Focal Segmental Glomerulosclerosis.

Journal: The Journal of the Association of Physicians of India

Published: August 21, 2025

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Journal: Italian journal of pediatrics

Published: February 25, 2025

Breakdown of blood-brain barrier, astrocytic endfeet swelling, and abnormal behaviors by blockade of TROY signaling in TROY-Fc transgenic mice.

Journal: Brain, behavior, and immunity

Published: February 18, 2025

Megalencephalic Leukoencephalopathy With Subcortical Cysts in an Adult.

Journal: Deutsches Arzteblatt international

Published: January 22, 2025

MLC1 alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage.

Journal: bioRxiv : the preprint server for biology

Published: January 20, 2025

Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.

Journal: Brain & development

Published: December 29, 2024

Imaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report.

Journal: Radiology case reports

Published: September 02, 2024

Gene therapy rescues brain edema and motor function in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: August 21, 2024

Gene therapy rescues brain edema and motor function in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: August 21, 2024

Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts - A case series.

Journal: Parkinsonism & related disorders

Published: July 15, 2024

Impaired Volume Regulation and Electrophysiology of Astrocytes In Situ in a Mouse Model for Megalencephalic Leukoencephalopathy With Subcortical Cysts.

Journal: Glia

Published: July 01, 2024

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Dominant MLC-causing mutations alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex.

Dominant MLC-causing mutations alter hepaCAM subcellular localization and protein interactome in astrocytes of the developing mouse cortex.

Uncommon Allies: Van der Knaap Syndrome and Focal Segmental Glomerulosclerosis.

Uncommon Allies: Van der Knaap Syndrome and Focal Segmental Glomerulosclerosis.

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Breakdown of blood-brain barrier, astrocytic endfeet swelling, and abnormal behaviors by blockade of TROY signaling in TROY-Fc transgenic mice.

Breakdown of blood-brain barrier, astrocytic endfeet swelling, and abnormal behaviors by blockade of TROY signaling in TROY-Fc transgenic mice.

Megalencephalic Leukoencephalopathy With Subcortical Cysts in an Adult.

Megalencephalic Leukoencephalopathy With Subcortical Cysts in an Adult.

MLC1 alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage.

MLC1 alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage.

Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.

Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.

Imaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report.

Imaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report.

Gene therapy rescues brain edema and motor function in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts.

Gene therapy rescues brain edema and motor function in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts.

Gene therapy rescues brain edema and motor function in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts.

Gene therapy rescues brain edema and motor function in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts.

Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts - A case series.

Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts - A case series.

Impaired Volume Regulation and Electrophysiology of Astrocytes In Situ in a Mouse Model for Megalencephalic Leukoencephalopathy With Subcortical Cysts.

Impaired Volume Regulation and Electrophysiology of Astrocytes In Situ in a Mouse Model for Megalencephalic Leukoencephalopathy With Subcortical Cysts.