Area of research
Cellular and Molecular Neuroscience · Molecular Biology
Research interest
Research interests include Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Mitochondrial Function and Pathology, and Genomics and Rare Diseases.
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
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients
<scp><i>FGF14</i> GAA</scp> Intronic Expansion in Unsolved Adult‐Onset Ataxia in the <scp>Care4Rare</scp> Canada Consortium
Characterization and visualization of tandem repeats at genome scale
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (<scp>SCA27B</scp>)
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
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
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
The GENESIS database and tools: A decade of discovery in Mendelian genomics
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
GAA-<i>FGF14</i> ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Deep structured learning for variant prioritization in Mendelian diseases
Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
<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”
The circadian clock time tunes axonal regeneration
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
Recurrent<i>de-novo gain-of-function</i>mutation in<i>SPTLC2</i>confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative