Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include RNA regulation and disease, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, and RNA Research and Splicing.
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Region-specific and age-related differences in astrocytes in the human brain
Malignant glioma in L-2-Hydroxy Glutaric Aciduria: thorough molecular characterization of a case and literature review
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
Regional vulnerability of brain white matter in vanishing white matter
Colchicine in Patients With Chronic Coronary Disease in Relation to Prior Acute Coronary Syndrome
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease
Expanded phenotype of AARS1-related white matter disease
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
Randomized Clinical Trial of<scp>First‐Line</scp>Genome Sequencing in Pediatric White Matter Disorders
Vanishing white matter: deregulated integrated stress response as therapy target
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy
Natural History of Vanishing White Matter
Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay
Axonal abnormalities in vanishing white matter
Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the <i>AARS2</i> gene
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Whole exome sequencing in patients with white matter abnormalities
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects
Case definition and classification of leukodystrophies and leukoencephalopathies
Disease specific therapies in leukodystrophies and leukoencephalopathies
CSF and Blood Levels of GFAP in Alexander Disease
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation
Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus