Area of research
Cellular and Molecular Neuroscience · Molecular Biology
Research interest
Research interests include Ataxia, Medicine, Spinocerebellar ataxia, Cohort, Trinucleotide repeat expansion, and Neurology.
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French–Canadian cohort
Intronic <i>FGF14</i> GAA repeat expansions impact progression and survival in multiple system atrophy
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
The <i>FGF14</i> <scp>GAA</scp> repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the <scp>SCA27B</scp> phenotype across populations
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
<scp>Non‐GAA</scp> Repeat Expansions in <scp><i>FGF14</i></scp> Are Likely Not Pathogenic—Reply to: “<i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family”