Area of research
Cellular and Molecular Neuroscience · Molecular Biology
Research interest
Research interests include Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, DNA Repair Mechanisms, and Neurological disorders and treatments.
Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3
The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias
SARA captures disparate progression and responsiveness in spinocerebellar ataxias
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias
Extended haplotype with rs41524547-G defines the ancestral origin of SCA10
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications
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: last
Temporal Dynamics of the Scale for the Assessment and Rating of Ataxia in Spinocerebellar Ataxias.
DZNE Pub 2022cited by 0position: middle
CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
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
Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6
Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and <i>SAMD12</i> intronic repeat expansion
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia [RETIRED]
Intron retention induced by microsatellite expansions as a disease biomarker
Targeted Next Generation Sequencing (NGS) for Analysis of Splicing Biomarkers of Myotonic Dystrophy Type 1 (DM1) (S22.002)
Disease progression in Myotonic Dystrophy Type 1 during a non-interventional multicenter study (S22.004)
Dystonia and ataxia progression in spinocerebellar ataxias
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias
The Initial Symptom and Motor Progression in Spinocerebellar Ataxias
<scp><i>ATXN2‐AS</i></scp>, a gene antisense to <scp><i>ATXN2</i></scp>, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis
Emerging Therapies in Friedreich’s Ataxia
Rare neurological channelopathies — networks to study patients, pathogenesis and treatment
Depression and clinical progression in spinocerebellar ataxias
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
Coenzyme Q10 and spinocerebellar ataxias