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His doctoral studies focused on the cell biology of molecular chaperone proteins in neurodegeneration, and made significant contributions to the field by elucidating the function, localization and interactions of the J-domain protein sacsin and it’s role as the cause of the autosomal dominant ataxia ARSACS.
Leiden University Medical Center - Cited by 1,932 - Cell Biology - Neurodegeneration
David PARFITT, Senior Researcher | Cited by 1,574 | of Leiden University Medical Centre, Leiden (LUMC) | Read 28 publications | Contact David PARFITT
The recently revised Alzheimer Association (AA) criteria for Alzheimer disease (AD) 1 propose that AD be defined on biological evidence only. The diagnosis of AD can be provided to cognitively normal people with evidence of core 1 AD biomarkers encompassing cerebrospinal fluid (CSF) amyloid β and tau ratios and plasma phosphorylated tau (p-tau) 217 validated against amyloid positron emission ...
David A Parfitt via Scopus - Elsevier Deep intronic mutation in ofd1, identified by targeted genomic next-generation sequencing, causes a severe form of x-linked retinitis pigmentosa (rp23) Human Molecular Genetics
1 day ago · The Parkinson’s research community mourns the passing of neurologist C. Warren Olanow, MD, a leader in the field who advocated passionately for giving more weight to patient needs in Parkinson’s research, pushed innovative thinking about clinical trial design and helped to bring research into the clinic.
Objectives: This multicenter, double-blind, randomized controlled trial assessed the safety and effectiveness of responsive cortical stimulation as an adjunctive therapy for partial onset seizures in adults with medically refractory epilepsy.
