Publications by authors named "Gert C Scheper"

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Oral HPV16 DNA as a screening tool to detect early oropharyngeal squamous cell carcinoma.
Kai D Tang, Sarju Vasani, Lilian Menezes, Touraj Taheri, Laurence J Walsh, Gert C Scheper

Cancer Sci· October 2020

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Oral HPV16 Prevalence in Oral Potentially Malignant Disorders and Oral Cavity Cancers.
Kai Dun Tang, Lilian Menezes, Kurt Baeten, Laurence J Walsh, Bernard C S Whitfield, Gert C Scheper

Biomolecules· February 2020

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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, Gert C Scheper

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, Gert C Scheper

Ann Neurol· January 2015

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Released selective pressure on a structural domain gives new insights on the functional relaxation of mitochondrial aspartyl-tRNA synthetase.
Hagen Schwenzer, Gert C Scheper, Nathalie Zorn, Luc Moulinier, Agnès Gaudry

Biochimie· May 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, Gert C Scheper

Brain· April 2014

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A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease.
Rogerio A de Almeida, Anne Fogli, Marina Gaillard, Gert C Scheper, Odile Boesflug-Tanguy

PLoS One· June 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, Gert C Scheper

Biochem J· March 2013

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Long-term tremor control with bilateral Vim-DBS in vanishing white matter disease.
István Valálik, Marjo S van der Knaap, Gert C Scheper, Akos Jobbágy, Zoltán Liptai

Parkinsonism Relat Disord· November 2012

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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, Gert C Scheper

Biochem J· February 2012

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Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.
Margreet C Ridder, Ilja Boor, Johannes C Lodder, Nienke L Postma, Xavier Capdevila-Nortes, Gert C Scheper

Brain· November 2011

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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.
Hanna Mierzewska, Marjo S van der Knaap, Gert C Scheper, Monika Bekiesinska-Figatowska, Elzbieta Szczepanik

Brain Dev· October 2011

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Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.
Rui Liu, Hannemieke D W van der Lei, Xuemin Wang, Noel C Wortham, Hua Tang, Gert C Scheper

Hum Mutat· September 2011

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Not all cystic leukoencephalopathies are "vanishing white matter".
Marjo S van der Knaap, Gert C Scheper

Mol Genet Metab· August 2011

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Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
Tania López-Hernández, Sònia Sirisi, Xavier Capdevila-Nortes, Marisol Montolio, Victor Fernández-Dueñas, Gert C Scheper

Hum Mol Genet· August 2011

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Correspondence on "Spinal cord calcification in an early-onset progressive leukoencephalopathy".
Laura van Berge, Carola G M van Berkel, Gert C Scheper, Marjo S van der Knaap

J Child Neurol· August 2011

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Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
Anna Duarri, Miguel Lopez de Heredia, Xavier Capdevila-Nortes, Margreet C Ridder, Marisol Montolio, Gert C Scheper

Neurobiol Dis· July 2011

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Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case without elevated white matter lactate.
Suvasini Sharma, Naveen Sankhyan, Atin Kumar, Gert C Scheper, Marjo S van der Knaap

J Child Neurol· June 2011

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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, Gert C Scheper

Am J Hum Genet· April 2011

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Vanishing white matter disease associated with ptosis and myoclonic seizures.
Suvasini Sharma, Ravindra Arya, K N Vykunta Raju, Atin Kumar, Gert C Scheper

J Child Neurol· March 2011

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A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.
Marie Messmer, Catherine Florentz, Hagen Schwenzer, Gert C Scheper, Marjo S van der Knaap

Biochem J· February 2011

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

J Neuropathol Exp Neurol· January 2011

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Leukoencephalopathy with vanishing white matter: a review.
Marianna Bugiani, Ilja Boor, James M Powers, Gert C Scheper, Marjo S van der Knaap

J Neuropathol Exp Neurol· October 2010

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Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.
Uluç Yiş, Gert C Scheper, Nedret Uran, Aycan Unalp, Handan Cakmakçi

Turk J Pediatr· August 2010

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Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
Marjo S van der Knaap, Vincent Lai, Wolfgang Köhler, Mustafa A Salih, Maria-José Fonseca, Gert C Scheper

Ann Neurol· June 2010

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