David Pellerin
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Neurological disorders and treatments, Glycogen Storage Diseases and Myoclonus, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia(2022)226 cited
- → GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response(2023)105 cited
- → Effect of lovastatin on behavior in children and adults with fragile X syndrome: An open‐label study(2014)78 cited
- → Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B(2023)71 cited
- → As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort(2023)63 cited
- → Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia(2024)61 cited
- → GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort(2024)54 cited
- → Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions(2023)52 cited
- → Natural History and Phenotypic Spectrum of GAA‐FGF14 Sporadic Late‐Onset Cerebellar Ataxia (SCA27B)(2023)51 cited
- → Lovastatin corrects ERK pathway hyperactivation in fragile X syndrome: potential of platelet’s signaling cascades as new outcome measures in clinical trials(2016)50 cited