David A. Parfitt

David A. Parfitt

Leiden University - Leiden / Netherlands
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4685180
Universiteit Leiden
person_outline David A. Parfitt's MOST POPULAR ARTICLES
1-) Identification and correction of mechanisms underlying inherited blindness in human iPSC-derived optic cups DA Parfitt, A Lane, CM Ramsden, AJF Carr, PM Munro, K Jovanovic, ... Cell stem cell 18 (6), 769-781, 2016 2542016
2-) Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) M Girard, R Larivière, DA Parfitt, EC Deane, R Gaudet, N Nossova, ... Proceedings of the National Academy of Sciences 109 (5), 1661-1666, 2012 1752012
3-) The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1 DA Parfitt, GJ Michael, EGM Vermeulen, NV Prodromou, TR Webb, ... Human molecular genetics 18 (9), 1556-1565, 2009 1652009
4-) Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)TR Webb, DA Parfitt, JC Gardner, A Martinez, D Bevilacqua, AE Davidson, ...Human molecular genetics 21 (16), 3647-3654, 20121742012
5-) The cell stress machinery and retinal degenerationD Athanasiou, M Aguilà, D Bevilacqua, SS Novoselov, DA Parfitt, ...FEBS letters 587 (13), 2008-2017, 20131672013