Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research focused on Tooth disease and Spinal muscular atrophy, with related work in Disease, Missense mutation, Genotype. Notable publications include 'Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia', 'Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes', and 'Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy'.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
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
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
Electrophysiologic features of <i>SYT2</i> mutations causing a treatable neuromuscular syndrome
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy
Quality-of-life in Charcot–Marie–Tooth disease: The patient’s perspective
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia