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Number of items: 28.

Esapa, Christopher T., McIlhinney, R. A. Jeffrey, Waite, Adrian J., Benson, Matthew A., Mirzayan, Jasmin, Piko, Henriett, Herczegfalvi, Ágnes, Horvath, Rita, Karcagi, Veronika, Walter, Maggie C., Lochmüller, Hanns, Rizkallah, Pierre J., Lu, Qi L. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2023. Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies. Frontiers in Molecular Biosciences 10 10.3389/fmolb.2023.1279700
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Waite, Adrian J., Millar, David and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2020. The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene. Stem Cell Research 49 , 102018. 10.1016/j.scr.2020.102018
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Lamb, Ruth, Rohrer, Jonathan D., Real, Raquel, Lubbe, Steven J., Waite, Adrian J., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Walters, R. Jon, Lashley, Tammaryn, Revesz, Tamas, Holton, Janice L. and Morris, Huw R. 2019. A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders. Molecular Case Studies 5 (3) , a003913. 10.1101/mcs.a003913
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Forrest, Marc P., Hill, Matthew J. ORCID: https://orcid.org/0000-0001-6776-8709, Kavanagh, David H., Tansey, Katherine E., Waite, Adrian J. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2018. The psychiatric risk gene transcription factor 4 (TCF4) regulates neurodevelopmental pathways associated with schizophrenia, autism, and intellectual disability. Schizophrenia Bulletin 44 (5) , pp. 1100-1110. 10.1093/schbul/sbx164
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Benson, Matthew A., Tinsley, Caroline L., Waite, Adrian, Carlisle, Francesca ORCID: https://orcid.org/0000-0002-9734-113X, Sweet, Steve M. M., Ehler, Elisabeth, George, Christopher, Lai, Francis ORCID: https://orcid.org/0000-0003-2852-8547, Martin-Rendon, Enca and Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731 2017. Ryanodine receptors are part of the myospryn complex in cardiac muscle. Scientific Reports 7 (1) , 6312. 10.1038/s41598-017-06395-6
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Xiao, Jianfeng, Vemula, Satya R., Xue, Yi, Khan, Mohammad M., Carlisle, Francesca A. ORCID: https://orcid.org/0000-0002-9734-113X, Waite, Adrian J., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Dragatsis, Ioannis, Zhao, Yu and LeDoux, Mark S. 2017. Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. Neurobiology of Disease 98 , pp. 52-65. 10.1016/j.nbd.2016.11.003
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Waite, Adrian J., Carlisle, Francesca A. ORCID: https://orcid.org/0000-0002-9734-113X, Chan, Yiumo Michael and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2016. Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain. Movement Disorders 31 (11) , pp. 1694-1703. 10.1002/mds.26738
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Koppers, Max, Blokhuis, Anna M., Westeneng, Henk-Jan, Terpstra, Margo L., Zundel, Caroline A. C., Vieira de Sá, Renata, Schellevis, Raymond D., Waite, Adrian J., Blake, Derek J ORCID: https://orcid.org/0000-0002-5005-4731, Veldink, Jan H., van den Berg, Leonard H. and Pasterkamp, R. Jeroen 2015. C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits. Annals of Neurology 78 (3) , pp. 426-438. 10.1002/ana.24453
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Mort, Matthew Edwin, Carlisle, Francesca ORCID: https://orcid.org/0000-0002-9734-113X, Waite, Adrian, Elliston, Lyn, Allen, Nicholas Denby ORCID: https://orcid.org/0000-0003-4009-186X, Jones, Lesley ORCID: https://orcid.org/0000-0002-3007-4612 and Hughes, Alis 2015. Huntingtin exists as multiple splice forms in human brain. Journal of Huntington's Disease 4 (2) , pp. 161-171. 10.3233/JHD-150151
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Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Kurian, Manju A., Wardle, Mark, Waite, Adrian J., Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip E., Lynch, Bryan, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Morris, Huw R. 2014. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. Journal of Neurology 261 (12) , pp. 2296-2304. 10.1007/s00415-014-7488-3

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Ritz, K., Waite, Adrian, Groen, J. L., Morris, H, Baas, F., Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731 and Tijssen, M. A.. J. 2014. SGCZ mutations are unlikely to be associated with myoclonus dystonia. Neuroscience 272 , pp. 88-91. 10.1016/j.neuroscience.2014.04.034

Waite, Adrian, Bäumer, Dirk, East, Simon, Neal, James, Morris, H., Ansorge, Olaf and Blake, Derek ORCID: https://orcid.org/0000-0002-5005-4731 2014. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion. Neurobiology of Aging 35 (7) , 1779.e5-1779.e13. 10.1016/j.neurobiolaging.2014.01.016

Fratta, Pietro, Poulter, Mark, Lashley, Tammaryn, Rohrer, Jonathan D., Polke, James M., Beck, Jon, Ryan, Natalie, Hensman, Davina, Mizielinska, Sarah, Waite, Adrian James, Lai, Mang-Ching, Gendron, Tania F., Petrucelli, Leonard, Fisher, Elizabeth M. C., Revesz, Tamas, Warren, Jason D., Collinge, John, Isaacs, Adrian M. and Mead, Simon 2013. Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathologica 126 (3) , pp. 401-409. 10.1007/s00401-013-1147-0
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Forrest, Marc, Waite, Adrian James, Martin-Rendon, Enca and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2013. Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation. PLoS ONE 8 (8) , e73169. 10.1371/journal.pone.0073169
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Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Smith, Daniel J., Kurian, Manju A., Wardle, Mark, Waite, Adrian James, Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip, Bajaj, Narinder, Lynch, Bryan, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Morris, Huw Rees 2013. SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain 136 (1) , pp. 294-303. 10.1093/brain/aws308

Forrest, Marc, Chapman, Ria M., Doyle, Anne Michelle, Tinsley, Caroline L., Waite, Adrian James and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2012. Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome. Human Mutation 33 (12) , pp. 1676-1686. 10.1002/humu.22160

Waite, Adrian James, Brown, Susan C. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2012. The dystrophin-glycoprotein complex in brain development and disease [Review]. Trends in Neurosciences 35 (8) , pp. 487-496. 10.1016/j.tins.2012.04.004

O'Dowd, Seán, Curtin, Denis, Waite, Adrian James, Roberts, Kinley, Pender, Niall, Reid, Valerie, O'Connell, Martin, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Morris, Huw Rees, Traynor, Bryan J. and Lynch, Timothy 2012. C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. Movement Disorders 27 (8) , pp. 1072-1074. 10.1002/mds.25022

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Waite, Adrian James, Kurian, Manju A., Wardle, Mark, Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Pall, Hardev, King, Mary D., Lynch, Timothy, White, Cathy, Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Morris, Huw Rees 2012. Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease [Abstract]. Journal of Neurology 259 , S30-S30.

Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Renton, Alan E., Mok, Kin, Dopper, Elise G. P., Waite, Adrian James, Rollinson, Sara, Chiò, Adriano, Restagno, Gabriella, Nicolaou, Nayia, Simon-Sanchez, Javier, van Swieten, John C., Abramzon, Yevgeniya, Johnson, Janel O., Sendtner, Michael, Pamphlett, Roger, Orrell, Richard W., Mead, Simon, Sidle, Katie C., Houlden, Henry, Rohrer, Jonathan D., Morrison, Karen E., Pall, Hardev, Talbot, Kevin, Ansorge, Olaf, Hernandez, Dena G., Arepalli, Sampath, Sabatelli, Mario, Mora, Gabriele, Corbo, Massimo, Giannini, Fabio, Calvo, Andrea, Englund, Elisabet, Borghero, Giuseppe, Floris, Gian Luca, Remes, Anne M., Laaksovirta, Hannu, McCluskey, Leo, Trojanowski, John Q., Van Deerlin, Vivianna M., Schellenberg, Gerard D., Nalls, Michael A., Drory, Vivian E., Lu, Chin-Song, Yeh, Tu-Hsueh, Ishiura, Hiroyuki, Takahashi, Yuji, Tsuji, Shoji, Le Ber, Isabelle, Brice, Alexis, Drepper, Carsten, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Kirby, Janine, Shaw, Pamela, Hardy, John, Tienari, Pentti J., Heutink, Peter, Morris, Huw R., Pickering-Brown, Stuart and Traynor, Bryan J. 2012. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet Neurology 11 (4) , pp. 323-330. 10.1016/S1474-4422(12)70043-1

Morris, Huw Rees, Waite, Adrian James, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Neal, James William and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2012. Recent advances in the genetics of the ALS-FTLD complex. Current Neurology and Neuroscience Reports 12 (3) , pp. 243-250. 10.1007/s11910-012-0268-5

Mok, Kin, Traynor, Bryan J., Schymick, Jennifer, Tienari, Pentti J., Laaksovirta, Hannu, Peuralinna, Terhi, Myllykangas, Liisa, Chiò, Adriano, Shatunov, Aleksey, Boeve, Bradley F., Boxer, Adam L., DeJesus-Hernandez, Mariely, Mackenzie, Ian R., Waite, Adrian James, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Morris, Huw Rees, Simón-Sánchez, Javier, van Swieten, John C., Heutink, Peter, Restagno, Gabriella, Mora, Gabriele, Morrison, Karen E., Shaw, Pamela J., Rollinson, Pamela Sara, Al-Chalabi, Ammar, Rademakers, Rosa, Pickering-Brown, Stuart, Orrell, Richard W., Nalls, Michael A. and Hardy, John 2012. The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of Aging 33 (1) , 209.e3-209.e8. 10.1016/j.neurobiolaging.2011.08.005

Waite, Adrian James, De Rosa, Maria Cristina, Brancaccio, Andrea and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2011. A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway. Human Mutation 32 (11) , pp. 1246-1258. 10.1002/humu.21561

Renton, Alan E., Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Waite, Adrian James, Simón-Sánchez, Javier, Rollinson, Sara, Gibbs, J. Raphael, Schymick, Jennifer C., Laaksovirta, Hannu, van Swieten, John C., Myllykangas, Liisa, Kalimo, Hannu, Paetau, Anders, Abramzon, Yevgeniya, Remes, Anne M., Kaganovich, Alice, Scholz, Sonja W., Duckworth, Jamie, Ding, Jinhui, Harmer, Daniel W., Hernandez, Dena G., Johnson, Janel O., Mok, Kin, Ryten, Mina, Trabzuni, Danyah, Guerreiro, Rita J., Orrell, Richard W., Neal, James William, Murray, Alexandra, Pearson, Justin Peter, Jansen, Iris E., Sondervan, David, Seelaar, Harro, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Young, Kate, Halliwell, Nicola, Callister, Janis Bennion, Toulson, Greg, Richardson, Anna, Gerhard, Alex, Snowden, Julie, Mann, David, Neary, David, Nalls, Michael A., Peuralinna, Terhi, Jansson, Lilja, Isoviita, Veli-Matti, Kaivorinne, Anna-Lotta, Hölttä-Vuori, Maarit, Ikonen, Elina, Sulkava, Raimo, Benatar, Michael, Wuu, Joanne, Chiò, Adriano, Restagno, Gabriella, Borghero, Giuseppe, Sabatelli, Mario, Heckerman, David, Rogaeva, Ekaterina, Zinman, Lorne, Rothstein, Jeffrey D., Sendtner, Michael, Drepper, Carsten, Eichler, Evan E., Alkan, Can, Abdullaev, Ziedulla, Pack, Svetlana D., Dutra, Amalia, Pak, Evgenia, Hardy, John, Singleton, Andrew, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Heutink, Peter, Pickering-Brown, Stuart, Morris, Huw Rees, Tienari, Pentti J. and Traynor, Bryan J. 2011. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72 (2) , pp. 257-268. 10.1016/j.neuron.2011.09.010

Pearson, Justin P., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Waite, Adrian James, Stott, Jennifer, Newsway, Victoria, Murray, Alexandra, Hernandez, Dena, Guerreiro, Rita, Singleton, Andrew B., Neal, James William and Morris, Huw Rees 2011. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. Journal of Neurology 258 (4) , pp. 647-655. 10.1007/s00415-010-5815-x

Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944, Waite, Adrian James, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Morris, Huw Rees 2011. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review. Movement Disorders 26 (10) , pp. 1939-1942. 10.1002/mds.23791

Waite, Adrian James, Tinsley, Caroline L., Locke, Matthew and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2009. The neurobiology of the dystrophin-associated glycoprotein complex. Annals of Medicine 41 (5) , pp. 344-359. 10.1080/07853890802668522

Esapa, Christopher T., Waite, Adrian James, Locke, Matthew, Benson, Matthew A., Kraus, Michaela, McIlhinney, R. A. Jeffrey, Sillitoe, Roy V., Beesley, Philip W. and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2007. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Human Molecular Genetics 16 (3) , pp. 327-342. 10.1093/hmg/ddl472
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This list was generated on Thu Mar 13 07:13:37 2025 GMT.


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