Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Peripheral Neuropathies and Disorders, and Botulinum Toxin and Related Neurological Disorders.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
Mutations in <i>MYO9B</i> are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Different nerve ultrasound patterns in charcot‐marie‐tooth types and hereditary neuropathy with liability to pressure palsies
Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VI
Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot–Marie–Tooth disease