Area of research
Cellular and Molecular Neuroscience · Molecular Biology
Research interest
Research interests include Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Ion channel regulation and function, and Neurological disorders and treatments.
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (<scp>SCA27B</scp>)
Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications
An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean
Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort
CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Sensory Over-responsivity and Aberrant Plasticity in Cerebellar Cortex in a Mouse Model of Syndromic Autism
Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia
Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits
Prevalence of <i>RFC1</i> -mediated spinocerebellar ataxia in a North American ataxia cohort
Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean
The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3
<i>De Novo</i> variants in <i>EEF2</i> cause a neurodevelopmental disorder with benign external hydrocephalus
Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6
Inertial Sensor Algorithms to Characterize Turning in Neurological Patients With Turn Hesitations
α1ACT Is Essential for Survival and Early Cerebellar Programming in a Critical Neonatal Window
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an <i>ELOVL4</i> mutation
Sensitivity of Volumetric Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy to Progression of Spinocerebellar Ataxia Type 1
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
Neurochemical abnormalities in premanifest and early spinocerebellar ataxias
Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6
Spinocerebellar Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics
Dystonia and ataxia progression in spinocerebellar ataxias
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias