Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Hereditary Neurological Disorders, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, and Mitochondrial Function and Pathology.
<i>De novo PMP2</i>mutations in families with type 1 Charcot–Marie–Tooth disease
Characterizing the molecular phenotype of an Atp7a<sup>T985I</sup>conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success
A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease
Characterization of the mitofusin 2 <scp>R94W</scp> mutation in a knock‐in mouse model
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12