| Charcot-Marie-Tooth–linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels WW Motley, KL Seburn, MH Nawaz, KE Miers, J Cheng, A Antonellis, ... PLoS genetics 7 (12), e1002399, 2011 | 130 | 2011 |
| Mutation in Mouse Hei10, an E3 Ubiquitin Ligase, Disrupts Meiotic Crossing Over JO Ward, LG Reinholdt, WW Motley, LM Niswander, DC Deacon, ... PLoS genetics 3 (8), e139, 2007 | 125 | 2007 |
| GARS axonopathy: not every neuron's cup of tRNA WW Motley, K Talbot, KH Fischbeck Trends in neurosciences 33 (2), 59-66, 2010 | 110 | 2010 |
| Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice DY Kwon, WW Motley, KH Fischbeck, BG Burnett Human molecular genetics 20 (18), 3667-3677, 2011 | 93 | 2011 |
| Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks M Meister-Broekema, R Freilich, C Jagadeesan, JN Rauch, ... Nature communications 9 (1), 5342, 2018 | 69 | 2018 |
| Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies M Auer-Grumbach, S Toegel, M Schabhüttl, D Weinmann, C Chiari, ... The American Journal of Human Genetics 99 (3), 607-623, 2016 | 58 | 2016 |
| Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology SJ Grice, JN Sleigh, WW Motley, JL Liu, RW Burgess, K Talbot, MZ Cader Human Molecular Genetics 24 (15), 4397-4406, 2015 | 56 | 2015 |
| CMT-associated mutations in glycyl-and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila B Ermanoska, WW Motley, R Leitão-Gonçalves, B Asselbergh, LTH Lee, ... Neurobiology of disease 68, 180-189, 2014 | 44 | 2014 |
| A novel AARS mutation in a family with dominant myeloneuropathy WW Motley, LB Griffin, I Mademan, J Baets, E De Vriendt, P De Jonghe, ... Neurology 84 (20), 2040-2047, 2015 | 43 | 2015 |
| De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease WW Motley, P Palaima, SW Yum, MA Gonzalez, F Tao, JV Wanschitz, ... Brain 139 (6), 1649-1656, 2016 | 40 | 2016 |
| Molecular engineering of antibodies for site-specific covalent conjugation using CRISPR/Cas9 M Khoshnejad, JS Brenner, W Motley, H Parhiz, CF Greineder, CH Villa, ... Scientific reports 8 (1), 1760, 2018 | 33 | 2018 |
| Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease M Traoré, G Landouré, W Motley, M Sangaré, K Meilleur, S Coulibaly, ... Neurogenetics 10, 319-323, 2009 | 33 | 2009 |
| A spontaneous mutation in contactin 1 in the mouse MT Davisson, RT Bronson, ALD Tadenev, WW Motley, A Krishnaswamy, ... PloS one 6 (12), e29538, 2011 | 20 | 2011 |
| Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy JM Sullivan, WW Motley, JO Johnson, WH Aisenberg, KL Marshall, ... The Journal of Clinical Investigation 130 (3), 1506-1512, 2020 | 14 | 2020 |
| Functional and molecular identification of a TASK-1 potassium channel regulating chloride secretion through CFTR channels in the shark rectal gland: implications for cystic … CJ Telles, SE Decker, WW Motley, AW Peters, AP Mehr, RA Frizzell, ... American Journal of Physiology-Cell Physiology 311 (6), C884-C894, 2016 | 14 | 2016 |
| Low-and very low-dose bevacizumab for retinopathy of prematurity: reactivations, additional treatments, and 12-month outcomes SF Freedman, A Hercinovic, DK Wallace, RT Kraker, Z Li, AR Bhatt, ... Ophthalmology 129 (10), 1120-1128, 2022 | 13 | 2022 |
| Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy WW Motley, S Züchner, SS Scherer Neurology: Genetics 6 (5), e496, 2020 | 9 | 2020 |
| Inducible knockout of Clec16a in mice results in sensory neurodegeneration HS Hain, R Pandey, M Bakay, BP Strenkowski, D Harrington, M Romer, ... Scientific Reports 11 (1), 9319, 2021 | 8 | 2021 |
| A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family L Dankwa, J Richardson, WW Motley, M Scavina, S Courel, T Bardakjian, ... Neuromuscular Disorders 29 (2), 134-137, 2019 | 7 | 2019 |
| A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family L Dankwa, J Richardson, WW Motley, S Züchner, SS Scherer Journal of the Peripheral Nervous System 23 (1), 36-39, 2018 | 5 | 2018 |
Kevin TalbotProfessor of Neurology, Oxford UniversityGeverifieerd e-mailadres voor ndcn.ox.ac.uk
