Area of research
Cellular and Molecular Neuroscience · Molecular Biology
Research interest
Research focused on Genetics and Mitochondrion, with related work in Primary ciliary dyskinesia, Proband, Zebrafish. Notable publications include 'Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca 2+ signalling', 'Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel', and 'Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy'.
Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder
Loss-of-function mutations in the<i>SIGMAR1</i>gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca<sup>2+</sup>signalling
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel
Zebrafish Tg(hb9:MTS-Kaede): a new in vivo tool for studying the axonal movement of mitochondria
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy