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List of works by Carola G M van Berkel

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

scientific article published on 28 February 2018

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

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

scientific article published in April 2010

Correspondence on "Spinal cord calcification in an early-onset progressive leukoencephalopathy"

scientific article published on 01 August 2011

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

article

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

scientific article

Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene

article

LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy

scientific article published on 10 February 2014

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

scientific article

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

scientific article published on February 1, 2012

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

scientific article

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

scientific article

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

scientific article

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

scientific article

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

scientific article published on 20 December 2017

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

scientific article

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

scientific article published in September 2011

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

scientific article

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

article

eIF2B-related disorders: antenatal onset and involvement of multiple organs

scientific article

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