Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research interests include Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Parkinson's Disease Mechanisms and Treatments, and Neurological disorders and treatments.
Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3
Copy Number Variation and Haplotype Analysis of <scp>17q21.31</scp> Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells
The Two Faces of Pediatric <scp>SCA2</scp>
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
SARA captures disparate progression and responsiveness in spinocerebellar ataxias
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 Carriers
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and <i>MAPT</i> Sub-haplotypes
A013 Study of OTX2 transcription factor in Huntington disease
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective
De Novo and Dominantly Inherited <scp><i>SPTAN1</i></scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Sensory and corticospinal signs before ataxia onset in SCA1 and SCA3: the READISCA study
HAL (Le Centre pour la Communication Scientifique Directe) 2022cited by 0position: middle
Temporal Dynamics of the Scale for the Assessment and Rating of Ataxia in Spinocerebellar Ataxias.
DZNE Pub 2022cited by 0position: middle
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
Questioning the causality of HTT CAG-repeat expansions in FTD/ALS
Serum NfL in spinocerebellar ataxia type 1 is increased already at the preataxic stage, correlating with proximity to clinical onset
Machine learning spots the time to treat Huntington disease
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment