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Gert C Scheper

Showing results (41-50 of 52) with videos related to

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Human Molecular Genetics|September 2, 2008
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defectsAnna Duarri, Oscar Teijido, Tania López-Hernández, et al.
Journal of Neuropathology and Experimental Neurology|December 16, 2010
Defective glial maturation in vanishing white matter diseaseMarianna Bugiani, Ilja Boor, Barbara van Kollenburg, et al.
American Journal of Human Genetics|March 23, 2011
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autismTania López-Hernández, Margreet C Ridder, Marisol Montolio, et al.
Human Mutation|May 12, 2011
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexesRui Liu, Hannemieke D W van der Lei, Xuemin Wang, et al.
Acta Neuropathologica|July 14, 2007
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeetIlja Boor, Machiel Nagtegaal, Wouter Kamphorst, et al.
Annals of Neurology|June 3, 2010
Megalencephalic leukoencephalopathy with cysts without MLC1 defectMarjo S van der Knaap, Vincent Lai, Wolfgang Köhler, et al.
American Journal of Human Genetics|October 21, 2003
eIF2B-related disorders: antenatal onset and involvement of multiple organsMarjo S van der Knaap, Carola G M van Berkel, Jochen Herms, et al.
Neurobiology of Disease|March 29, 2011
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell modelAnna Duarri, Miguel Lopez de Heredia, Xavier Capdevila-Nortes, et al.
The Journal of Clinical Investigation|March 15, 2016
Astrocytes are central in the pathomechanisms of vanishing white matterStephanie Dooves, Marianna Bugiani, Nienke L Postma, et al.
Nature Genetics|March 27, 2007
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationGert C Scheper, Thom van der Klok, Rob J van Andel, et al.
Pageof 6

Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|September 2, 2008
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defectsAnna Duarri, Oscar Teijido, Tania López-Hernández, et al.
Journal of Neuropathology and Experimental Neurology|December 16, 2010
Defective glial maturation in vanishing white matter diseaseMarianna Bugiani, Ilja Boor, Barbara van Kollenburg, et al.
American Journal of Human Genetics|March 23, 2011
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autismTania López-Hernández, Margreet C Ridder, Marisol Montolio, et al.
Human Mutation|May 12, 2011
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexesRui Liu, Hannemieke D W van der Lei, Xuemin Wang, et al.
Acta Neuropathologica|July 14, 2007
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeetIlja Boor, Machiel Nagtegaal, Wouter Kamphorst, et al.
Annals of Neurology|June 3, 2010
Megalencephalic leukoencephalopathy with cysts without MLC1 defectMarjo S van der Knaap, Vincent Lai, Wolfgang Köhler, et al.
American Journal of Human Genetics|October 21, 2003
eIF2B-related disorders: antenatal onset and involvement of multiple organsMarjo S van der Knaap, Carola G M van Berkel, Jochen Herms, et al.
Neurobiology of Disease|March 29, 2011
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell modelAnna Duarri, Miguel Lopez de Heredia, Xavier Capdevila-Nortes, et al.
The Journal of Clinical Investigation|March 15, 2016
Astrocytes are central in the pathomechanisms of vanishing white matterStephanie Dooves, Marianna Bugiani, Nienke L Postma, et al.
Nature Genetics|March 27, 2007
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationGert C Scheper, Thom van der Klok, Rob J van Andel, et al.
Pageof 6