Area of research
Molecular Biology · Cellular and Molecular Neuroscience
Research interest
Research interests include Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Muscle Physiology and Disorders, and Genomics and Rare Diseases.
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Autosomal dominant <i>in cis</i> D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Cell environment shapes TDP-43 function with implications in neuronal and muscle disease
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
GSK3β mediates muscle pathology in myotonic dystrophy