Area of research
Neurology · Cellular and Molecular Neuroscience
Research interest
Research interests include Genetic Neurodegenerative Diseases, Parkinson's Disease Mechanisms and Treatments, Mitochondrial Function and Pathology, and Neurological disorders and treatments.
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.
Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use Considerations
The Spectrum of Neurologic Phenotypes Associated With <scp><i>NUS1</i></scp> Pathogenic Variants: A Comprehensive Case Series
Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use Considerations.
Progress and challenges in sporadic late-onset cerebellar ataxias.
A clinical and genotype-phenotype analysis of MACF1 variants
The Two Faces of Pediatric <scp>SCA2</scp>
Trigeminal Tract Abnormality Leading to Leukodystrophy With Brainstem and Spinal Cord Involvement and High Lactate Diagnosis.
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Therapeutic modalities of deferiprone in Parkinson's disease: SKY and EMBARK studies
Prognosis of impulse control disorders in Parkinson’s disease: a prospective controlled study
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
The inherited cerebellar ataxias: an update.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
Cerebral perfusion using ASL in patients with COVID-19 and neurological manifestations: A retrospective multicenter observational study
Efficacy and safety of clonidine for the treatment of impulse control disorder in Parkinson’s disease: a multicenter, parallel, randomised, double-blind, Phase 2b Clinical trial
Implementation of a Magnetic Resonance Imaging scanner dedicated to emergencies in cases of binocular diplopia: Impact on patient management.
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Efficacy of Caffeine in <scp>ADCY5</scp>‐Related Dyskinesia: A Retrospective Study
Limbic Stimulation Drives Mania in <scp>STN‐DBS</scp> in Parkinson Disease: A Prospective Study
A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
Personality Related to Quality-of-Life Improvement After Deep Brain Stimulation in Parkinson's Disease (PSYCHO-STIM II).
Progression of Nigrostriatal Denervation in Cerebellar Multiple System Atrophy: A Prospective Study.
"Phalanx sign" helps to discriminate MSA-C from idiopathic late onset cerebellar ataxia.
Author Response: Progression of Nigrostriatal Denervation in Cerebellar Multiple System Atrophy: A Prospective Study.
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia