| 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 | 4709 | 2011 |
| 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 | 1297 | 2012 |
| 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 | 324 | 2014 |
| C9orf72 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 | 307 | 2015 |
| The dystrophin–glycoprotein complex in brain development and disease A Waite, SC Brown, DJ Blake Trends in neurosciences 35 (8), 487-496, 2012 | 226 | 2012 |
| Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia P Fratta, M Poulter, T Lashley, JD Rohrer, JM Polke, J Beck, N Ryan, ... Acta neuropathologica 126 (3), 401-409, 2013 | 178 | 2013 |
| The chromosome 9 ALS and FTD locus is probably derived from a single founder K Mok, BJ Traynor, J Schymick, PJ Tienari, H Laaksovirta, T Peuralinna, ... Neurobiology of aging 33 (1), 209. e3-209. e8, 2012 | 173 | 2012 |
| The neurobiology of the dystrophin-associated glycoprotein complex A Waite, CL Tinsley, M Locke, DJ Blake Annals of medicine 41 (5), 344-359, 2009 | 146 | 2009 |
| SGCE missense mutations that cause myoclonus-dystonia syndrome impair ε-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA CT Esapa, A Waite, M Locke, MA Benson, M Kraus, RAJ McIlhinney, ... Human molecular genetics 16 (3), 327-342, 2007 | 135 | 2007 |
| Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p JP Pearson, NM Williams, E Majounie, A Waite, J Stott, V Newsway, ... Journal of neurology 258 (4), 647-655, 2011 | 119 | 2011 |
| SGCE mutations cause psychiatric disorders: clinical and genetic characterization KJ Peall, DJ Smith, MA Kurian, M Wardle, AJ Waite, T Hedderly, JP Lin, ... Brain 136 (1), 294-303, 2013 | 112 | 2013 |
| Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation MP Forrest, AJ Waite, E Martin-Rendon, DJ Blake PloS one 8 (8), e73169, 2013 | 111 | 2013 |
| The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual … MP Forrest, MJ Hill, DH Kavanagh, KE Tansey, AJ Waite, DJ Blake Schizophrenia bulletin 44 (5), 1100-1110, 2017 | 94 | 2017 |
| SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype KJ Peall, MA Kurian, M Wardle, AJ Waite, T Hedderly, JP Lin, M Smith, ... Journal of neurology 261 (12), 2296-2304, 2014 | 76 | 2014 |
| Functional analysis of TCF4 missense mutations that cause Pitt–Hopkins syndrome M Forrest, RM Chapman, AM Doyle, CL Tinsley, A Waite, DJ Blake Human mutation 33 (12), 1676-1686, 2012 | 76 | 2012 |
| Recent advances in the genetics of the ALS-FTLD complex HR Morris, AJ Waite, NM Williams, JW Neal, DJ Blake Current neurology and neuroscience reports 12 (3), 243-250, 2012 | 71 | 2012 |
| C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism S O'Dowd, D Curtin, AJ Waite, K Roberts, N Pender, V Reid, M O'Connell, ... Movement Disorders 27 (8), 1072-1074, 2012 | 54 | 2012 |
| Psychiatric disorders, myoclonus dystonia, and the epsilon‐sarcoglycan gene: A systematic review KJ Peall, AJ Waite, DJ Blake, MJ Owen, HR Morris Movement Disorders 26 (10), 1939-1942, 2011 | 53 | 2011 |
| Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome J Xiao, SR Vemula, Y Xue, MM Khan, FA Carlisle, AJ Waite, DJ Blake, ... Neurobiology of Disease 98, 52-65, 2017 | 39 | 2017 |
| Ryanodine receptors are part of the myospryn complex in cardiac muscle MA Benson, CL Tinsley, AJ Waite, FA Carlisle, SMM Sweet, E Ehler, ... Scientific reports 7 (1), 6312, 2017 | 29 | 2017 |
