Publications by authors named "Emiel Polder"

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Vanishing white matter: deregulated integrated stress response as therapy target.
Truus E M Abbink, Lisanne E Wisse, Ermelinda Jaku, Michiel J Thiecke, Daniel Voltolini-González, Emiel Polder

Ann Clin Transl Neurol· August 2019

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Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions.
Lisanne E Wisse, Renske Penning, Esther A Zaal, Carola G M van Berkel, Timo J Ter Braak, Emiel Polder

Front Cell Neurosci· December 2017

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Astrocytes are central in the pathomechanisms of vanishing white matter.
Stephanie Dooves, Marianna Bugiani, Nienke L Postma, Emiel Polder, Niels Land

J Clin Invest· April 2016

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Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.
Mohit Dubey, Marianna Bugiani, Margreet C Ridder, Nienke L Postma, Eelke Brouwers, Emiel Polder

Ann Neurol· January 2015

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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Eline M Hamilton, Emiel Polder, Adeline Vanderver, Sakkubai Naidu, Raphael Schiffmann

Brain· July 2014

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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
Laura van Berge, Eline M Hamilton, Tarja Linnankivi, Graziella Uziel, Marjan E Steenweg, Emiel Polder

Brain· April 2014

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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.
Christel Depienne, Marianna Bugiani, Céline Dupuits, Damien Galanaud, Valérie Touitou, Emiel Polder

Lancet Neurol· July 2013

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Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
Laura van Berge, Josta Kevenaar, Emiel Polder, Agnès Gaudry, Catherine Florentz

Biochem J· March 2013

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Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease.
Marianna Bugiani, Nienke Postma, Emiel Polder, Nikki Dieleman, Peter G Scheffer

Brain· January 2013

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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
Laura van Berge, Stephanie Dooves, Carola G M van Berkel, Emiel Polder, Marjo S van der Knaap

Biochem J· February 2012

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Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
Tania López-Hernández, Margreet C Ridder, Marisol Montolio, Xavier Capdevila-Nortes, Emiel Polder

Am J Hum Genet· April 2011

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Defective glial maturation in vanishing white matter disease.
Marianna Bugiani, Ilja Boor, Barbara van Kollenburg, Nienke Postma, Emiel Polder

J Neuropathol Exp Neurol· January 2011

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