Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research interests include Medicine, Spinal muscular atrophy, Biology, Disease, Placebo, and Tooth disease.
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
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
Assessing non-Mendelian inheritance in inherited axonopathies
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome
SMA valiant trial: A prospective, double‐blind, placebo‐controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy
Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability