Area of research
Cellular and Molecular Neuroscience · Rheumatology
Research interest
Research focused on Trinucleotide repeat expansion and Spinocerebellar ataxia, with related work in Myopathy, Differential diagnosis, Neurology. Notable publications include 'A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry', 'Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis', and 'Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions'.
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis