Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Disease, Medicine, Natural history, Internal medicine, Biology, and Missense mutation.
Neuropathy target esterase activity defines phenotypes among <i>PNPLA6</i> disorders
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
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
Assessing non-Mendelian inheritance in inherited axonopathies
Myelin abnormality in Charcot–Marie–Tooth type 4J recapitulates features of acquired demyelination
Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the <i>MPZ</i> gene
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis