| A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ... Neuron 72 (2), 257-268, 2011 | 4981 | 2011 |
| Function and genetics of dystrophin and dystrophin-related proteins in muscle DJ Blake, A Weir, SE Newey, KE Davies Physiological reviews 82 (2), 291-329, 2002 | 1558 | 2002 |
| Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ... The Lancet Neurology 11 (4), 323-330, 2012 | 1401 | 2012 |
| Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan M Brockington, DJ Blake, P Prandini, SC Brown, S Torelli, MA Benson, ... The American Journal of Human Genetics 69 (6), 1198-1209, 2001 | 683 | 2001 |
| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C M Brockington, Y Yuva, P Prandini, SC Brown, S Torelli, MA Benson, ... Human molecular genetics 10 (25), 2851-2859, 2001 | 594 | 2001 |
| Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia K Talbot, WL Eidem, CL Tinsley, MA Benson, EW Thompson, RJ Smith, ... The Journal of clinical investigation 113 (9), 1353-1363, 2004 | 552 | 2004 |
| PDZ domains: targeting signalling molecules to sub‐membranous sites CP Ponting, C Phillips, KE Davies, DJ Blake Bioessays 19 (6), 469-479, 1997 | 550 | 1997 |
| Primary structure of dystrophin-related protein JM Tinsley, DJ Blake, A Roche, U Fairbrother, J Riss, BC Byth, AE Knight, ... Nature 360 (6404), 591-593, 1992 | 521 | 1992 |
| Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) W Li, Q Zhang, N Oiso, EK Novak, R Gautam, EP O'Brien, CL Tinsley, ... Nature genetics 35 (1), 84-89, 2003 | 507 | 2003 |
| Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain MA Benson, SE Newey, E Martin-Rendon, R Hawkes, DJ Blake Journal of Biological Chemistry 276 (26), 24232-24241, 2001 | 394 | 2001 |
| Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion AJ Waite, D Bäumer, S East, J Neal, HR Morris, O Ansorge, DJ Blake Neurobiology of aging 35 (7), 1779. e5-1779. e13, 2014 | 355 | 2014 |
| C 9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits M Koppers, AM Blokhuis, HJ Westeneng, ML Terpstra, CAC Zundel, ... Annals of neurology 78 (3), 426-438, 2015 | 338 | 2015 |
| ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome DJ Picketts, DR Higgs, S Bachoo, DJ Blake, OWJ Quarrell, RJ Gibbons Human molecular genetics 5 (12), 1899-1907, 1996 | 313 | 1996 |
| The neurobiology of Duchenne muscular dystrophy: learning lessons from muscle? DJ Blake, S Kröger Trends in neurosciences 23 (3), 92-99, 2000 | 286 | 2000 |
| Different dystrophin-like complexes are expressed in neurons and glia DJ Blake, R Hawkes, MA Benson, PW Beesley The Journal of cell biology 147 (3), 645-658, 1999 | 284 | 1999 |
| ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins CP Ponting, DJ Blake, KE Davies, J Kendrick-Jones, SJ Winder Trends in biochemical sciences 21 (1), 11-13, 1996 | 265 | 1996 |
| Phenotypic spectrum associated with mutations in the fukutin‐related protein gene E Mercuri, M Brockington, V Straub, S Quijano‐Roy, Y Yuva, R Herrmann, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 263 | 2003 |
| Characterization and organization of the genes encoding the A-, B-and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q GC Sellar, DJ Blake, KB Reid Biochemical journal 274 (2), 481-490, 1991 | 253 | 1991 |
| Increasing complexity of the dystrophin-associated protein complex. JM Tinsley, DJ Blake, RA Zuellig, KE Davies Proceedings of the National Academy of Sciences 91 (18), 8307-8313, 1994 | 252 | 1994 |
| The dystrophin–glycoprotein complex in brain development and disease A Waite, SC Brown, DJ Blake Trends in neurosciences 35 (8), 487-496, 2012 | 246 | 2012 |
