C. V. van Berkel

发表

Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes

Hua Tang, G. Scheper, C. Proud, 2011, Human mutation.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

E. Bertini, T. Strom, M. Zeviani, 2012, Brain : a journal of neurology.

Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro

C. Proud, V. Heine, M. S. van der Knaap, 2018, Scientific Reports.

Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.

M. Buchwald, R. Wegner, H. Joenje, 1995, Blood.

Evidence for at least eight Fanconi anemia genes.

M. Buchwald, F. D. di Summa, H. Joenje, 1997, American journal of human genetics.

Altered PLP1 splicing causes hypomyelination of early myelinating structures

E. Bertini, M. Tarnopolsky, C. Catsman-Berrevoets, 2015, Annals of clinical and translational neurology.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.

G. Scheper, M. S. van der Knaap, C. V. van Berkel, 2012, The Biochemical journal.

Isolation of a cDNA representing the Fanconi anemia complementation group E gene.

N. Alon, C. Mathew, Q. Waisfisz, 2000, American journal of human genetics.

Defective Glial Maturation in Vanishing White Matter Disease

S. Goldman, E. Hol, G. Scheper, 2011, Journal of neuropathology and experimental neurology.

Effect of iron chelators on the cytotoxic and genotoxic action of hyperoxia in Chinese hamster ovary cells.

H. Joenje, C. V. van Berkel, J. Gille, 1992, Mutation research.

Effects of lethal exposure to hyperoxia and to hydrogen peroxide on NAD(H) and ATP pools in Chinese hamster ovary cells.

E. Mullaart, J. Vijg, H. Joenje, 1989, Mutation research.

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3

C. Mathew, A. Cleton-Jansen, D. Callen, 1999, British Journal of Cancer.

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

A. Vanderver, R. Rodenburg, P. Heutink, 2013, Neurology.

Mutagenicity of metabolic oxygen radicals in mammalian cell cultures.

H. Joenje, C. V. van Berkel, J. Gille, 1994, Carcinogenesis.

Mechanism of hyperoxia‐induced chromosomal breakage in chinese hamster cells

H. Joenje, C. V. van Berkel, J. Gille, 1993, Environmental and molecular mutagenesis.

Genotype–phenotype correlation in vanishing white matter disease

B. Tatlı, G. Scheper, W. V. van Wieringen, 2010, Neurology.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

I. Krägeloh-Mann, G. Scheper, M. Knaap, 2014 .

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

E. Bertini, A. Vanderver, R. Carrozzo, 2016, Brain : a journal of neurology.

Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer.

A D Auerbach, C. Mathew, N. Doggett, 1998, Genomics.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

H. Smeets, R. Kamps, B. de Koning, 2016, Front. Neurol..

Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A.

C. Mathew, Q. Waisfisz, A. D’Andrea, 2000, American journal of human genetics.

Erratum: Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA

N. Alon, G. Pals, M. Buchwald, 1996, Nature Genetics.

Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts.

G. Scheper, M. S. van der Knaap, T. Jentsch, 2010, Genetic testing and molecular biomarkers.

Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions

C. Proud, M. Altelaar, M. S. van der Knaap, 2017, Frontiers in Cellular Neuroscience.

S. Naidu, G. Scheper, C. Proud, 2003, American journal of human genetics.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

A. Vanderver, R. Schiffmann, R. Taft, 2014, Brain : a journal of neurology.

Arg113His mutation in eIF2Bε as cause of leukoencephalopathy in adults

E. Storey, F. Salvi, M. S. van der Knaap, 2004, Neurology.

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.

E. Storey, F. Salvi, M. S. van der Knaap, 2004, Neurology.

Early-Onset LBSL: How Severe Does It Get?

I. Temple, G. Scheper, G. Uziel, 2012, Neuropediatrics.

Correspondence on “Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy”

G. Scheper, M. S. van der Knaap, C. V. van Berkel, 2011, Journal of child neurology.

Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions

C. Proud, M. Altelaar, M. S. van der Knaap, 2017, Front. Cell. Neurosci..