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Number of items: 132.

Okumura, Naoki, Hayashi, Ryosuke, Nakano, Masakazu, Yoshii, Kengo, Tashiro, Kei, Sato, Takahiko, Blake, Derek J., Aleff, Ross, Butz, Malinda, Highsmith, Edward W., Wieben, Eric D., Fautsch, Michael P., Baratz, Keith H., Komori, Yuya, Nakahara, Makiko, Tourtas, Theofilos, Schlötzer-Schrehardt, Ursula, Kruse, Friedrich and Koizumi, Noriko 2019. Effect of trinucleotide repeat expansion on the expression of TCF4 mRNA in Fuchs' endothelial corneal dystrophy. Investigative Ophthalmology & Visual Science 60 (2) , p. 779. 10.1167/iovs.18-25760
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Cameron, Darren, Blake, Derek J., Bray, Nicholas J. and Hill, Matthew J. 2019. Transcriptional changes following cellular knockdown of the schizophrenia risk gene SETD1A are enriched for common variant association with the disorder. Molecular Neuropsychiatry
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Chapman, Ria M, Tinsley, Caroline L, Hill, Matthew J, Forrest, Marc P, Tansey, Katherine E, Pardiñas, Antonio F, Rees, Elliott, Doyle, A Michelle, Wilkinson, Lawrence S, Owen, Michael J, O?Donovan, Michael C and Blake, Derek J 2018. Convergent evidence that ZNF804A is a regulator of pre-messenger RNA processing and gene expression. Schizophrenia Bulletin 10.1093/schbul/sby183
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Forrest, Marc P, Hill, Matthew, Kavanagh, David, Tansey, Katherine, Waite, Adrian and Blake, Derek 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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Gyöngyösi, Mariann, Haller, Paul M., Blake, Derek J. and Martin Rendon, Enca 2018. Meta-analysis of cell therapy studies in heart failure and acute myocardial infarction. Circulation Research 123 (2) , pp. 301-308. 10.1161/CIRCRESAHA.117.311302
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Benson, Matthew A., Tinsley, Caroline L., Waite, Adrian, Carlisle, Francesca, Sweet, Steve M. M., Ehler, Elisabeth, George, Christopher, Lai, Francis, Martin-Rendon, Enca and Blake, Derek 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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Petit, Emilie I, Michalak, Zuzanna, Cox, Rachel, O'Tuathaigh, Colm M P, Clarke, Niamh, Tighe, Orna, Talbot, Konrad, Blake, Derek J., Joel, Josephine, Shaw, Alexander, Sheardown, Steven A, Morrison, Alastair D, Wilson, Stephen, Shapland, Ellen M, Henshall, David C, Kew, James N, Kirby, Brian P and Waddington, John L 2017. Dysregulation of specialized delay/interference-dependent working memory following loss of Dysbindin-1A in schizophrenia-related phenotypes. Neuropsychopharmacology 42 (6) , pp. 1349-1360. 10.1038/npp.2016.282
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Harvey, Emma, Zhang, Huajun, Sepúlveda, Pilar, Garcia, Sara P., Sweeney, Dominic, Choudry, Fizzah A., Castellano, Delia, Thomas, George N., Kattach, Hassan, Petersen, Romina, Blake, Derek J, Taggart, David P., Frontini, Mattia, Watt, Suzanne M. and Martin-Rendon, Enca 2017. Potency of human cardiosphere-derived cells from patients with ischemic heart disease is associated with robust vascular supportive ability. Stem Cells Translational Medicine 6 (5) , pp. 1399-1411. 10.1002/sctm.16-0229
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Grütz, Karen, Seibler, Philip, Weissbach, Anne, Lohmann, Katja, Carlisle, Francesca, Blake, Derek J, Westenberger, Ana, Klein, Christine and Grünewald, Anne 2017. Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia. Scientific Reports 7 , 41156. 10.1038/srep41156
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Xiao, Jianfeng, Vemula, Satya R., Xue, Yi, Khan, Mohammad M., Carlisle, Francesca, Waite, Adrian, Blake, Derek, 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 James, Carlisle, Francesca, Chan, Yiumo Michael and Blake, Derek 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 James, Blake, Derek J, 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

Hill, Matthew, Forrest, Marc P., Martin-Rendon, Enca and Blake, Derek J. 2014. Association of Transcription Factor 4 (TCF4) variants with schizophrenia and intellectual disability. Current Behavioral Neuroscience Reports 1 (4) , pp. 206-214. 10.1007/s40473-014-0027-9

Peall, Kathryn J., Kurian, Manju A., Wardle, Mark, Waite, Adrian, Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip E., Lynch, Bryan, Kirov, George, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek, Owen, Michael John and Morris, Huw 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., Ritz, K., Waite, Adrian, Groen, J. L., Morris, H, Baas, F., Blake, Derek 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 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. 10.1016/j.neurobiolaging.2014.01.016

Forrest, Marc, Hill, Matthew J., Quantock, Andrew James, Martin-Rendon, Enca and Blake, Derek J. 2014. The emerging roles of TCF4 in disease and development. Trends in Molecular Medicine 20 (6) , pp. 322-331. 10.1016/j.molmed.2014.01.010

Xu, Lei, Lu, Pei Juan, Wang, Chi-Hsien, Keramaris, Elizabeth, Qiao, Chunping, Xiao, Bin, Blake, Derek, Xiao, Xiao and Lu, Qi Long 2013. Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions. Molecular Therapy 21 (10) , pp. 1832-40. 10.1038/mt.2013.156

Forrest, Marc, Waite, Adrian James, Martin-Rendon, Enca and Blake, Derek J. 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., 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, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J., Owen, Michael John 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. 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. 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

Peall, Kathryn J., 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., Owen, Michael John and Morris, Huw Rees 2012. Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease [Abstract]. Journal of Neurology 259 , S30-S30.

Chapman, Ria M., Tinsley, Caroline L., Doyle, A. Michelle, O'Donovan, Michael Conlon and Blake, Derek John 2012. Inducible over-expression and siRNA mediated knock-down of the schizophrenia susceptibility gene ZNF804A: Detection of altered gene expression and splicing using whole genome exon arrays. International Journal of Developmental Neuroscience 30 (8) , p. 673. 10.1016/j.ijdevneu.2012.10.011

Morris, Huw Rees, Waite, Adrian James, Williams, Nigel Melville, Neal, James William and Blake, Derek J. 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

Waite, Adrian James, De Rosa, Maria Cristina, Brancaccio, Andrea and Blake, Derek J. 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, 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., 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, 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

Talbot, Konrad, Louneva, Natalia, Cohen, Julia W., Kazi, Hala, Blake, Derek J. and Arnold, Steven E. 2011. Synaptic dysbindin-1 reductions in schizophrenia occur in an isoform-specific manner indicating their subsynaptic location. PLoS ONE 6 (3) , e16886. 10.1371/journal.pone.0016886
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Peall, Kathryn J., Waite, Adrian James, Blake, Derek J., Owen, Michael John 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

Lu, Pei J., Zillmer, Allen, Wu, XiaoHua, Lochmuller, Hanns, Vachris, Judy, Blake, Derek J., Chan, Yiumo Michael and Lu, Qi L. 2010. Mutations alter secretion of fukutin-related protein. Biochimica et Biophysica Acta - Molecular Basis of Disease 1802 (2) , pp. 253-258. 10.1016/j.bbadis.2009.10.016

Chan, Y. M., Keramaris-Vrantsis, E., Lidov, H. G., Norton, J. H., Zinchenko, N., Gruber, H. E., Thresher, R., Blake, Derek J., Ashar, J., Rosenfeld, J. and Lu, Q. L. 2010. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Human Molecular Genetics 19 (20) , pp. 3995-4006. 10.1093/hmg/ddq314

Borg, Kristian, Stucka, Rolf, Locke, Matthew, Melin, Eva, Åhlberg, Gabrielle, Klutzny, Ursula, Von Der Hagen, Maja, Huebner, Angela, Lochmüller, Hanns, Wrogemann, Klaus, Thornell, Lars-Eric, Blake, Derek J. and Schoser, Benedikt 2009. Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Human Mutation 30 (10) , E831-E844. 10.1002/humu.21063

Locke, Matthew, Tinsley, Caroline L., Benson, Matthew A. and Blake, Derek J. 2009. TRIM32 is an E3 ubiquitin ligase for dysbindin. Human Molecular Genetics 18 (13) , pp. 2344-2358. 10.1093/hmg/ddp167
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Waite, Adrian James, Tinsley, Caroline L., Locke, Matthew and Blake, Derek J. 2009. The neurobiology of the dystrophin-associated glycoprotein complex. Annals of Medicine 41 (5) , pp. 344-359. 10.1080/07853890802668522

Tang, Junxia, LeGros, Robert P., Louneva, Natalia, Yeh, Lilly, Cohen, Julia W., Hahn, Chang-Gyu, Blake, Derek J., Arnold, Steven E. and Talbot, Konrad 2009. Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression. Human Molecular Genetics 18 (20) , pp. 3851-3863. 10.1093/hmg/ddp329

Hjermind, L. E., Vissing, J., Asmus, F., Krag, T., Lochmüller, H., Walter, M. C., Erdal, J., Blake, Derek J. and Nielsen, J. E. 2008. No muscle involvement in myoclonus-dystonia caused by ɛ-sarcoglycan gene mutations. European Journal of Neurology 15 (5) , pp. 525-529. 10.1111/j.1468-1331.2008.02116.x

Keramaris-Vrantsis, Elizabeth, Lu, Pei J., Doran, Timothy, Zillmer, Allen, Ashar, Jignya, Esapa, Christopher T., Benson, Matthew A., Blake, Derek J., Rosenfeld, Jeffrey and Lu, Qi L. 2007. Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. Muscle & Nerve 36 (4) , pp. 455-465. 10.1002/mus.20833

Schröder, Jörn E., Tegeler, Marion R., Großhans, Uli, Porten, Elmar, Blank, Martina, Lee, Jun, Esapa, Chris, Blake, Derek J. and Kröger, Stephan 2007. Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNS. Developmental Biology 307 (1) , pp. 62-78. 10.1016/j.ydbio.2007.04.020

Blake, Derek J 2007. Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin. Schizophrenia bulletin 33 (2) , p. 255.

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. 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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Martin-Rendon, E. and Blake, Derek J. 2007. Patenting human genes and stem cells. Recent Patents on DNA and Gene Sequences 1 (1) , pp. 25-34.

Talbot, Konrad, Cho, Dan-Sung, Ong, Wei-Yi, Benson, Matthew A., Han, Li-Ying, Kazi, Hala A., Kamins, Joshua, Hahn, Chang-Gyu, Blake, Derek J. and Arnold, Steven E. 2006. Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin. Human Molecular Genetics 15 (20) , pp. 3041-3054. 10.1093/hmg/ddl246

Blake, Derek J., Esapa, C. T. and McIlhinney, R. A. 2005. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Human Molecular Genetics 14 (2) , pp. 295-305. 10.1093/hmg/ddi026

Blake, Derek J., Esapa, C. T., Martin-Rendon, E. and McIlhinney, R. A. 2005. Glycosylation defects and muscular dystrophy. Advances in Experimental Medicine and Biology 564 , pp. 97-98. 10.1007/0-387-25515-X_15

Lien, Chun Fu, Vlachouli, Christina, Blake, Derek J., Simons, J. Paul and Górecki, Dariusz C. 2004. Differential spatio-temporal expression of alpha-dystrobrevin-1 during mouse development. Gene Expression Patterns 4 (5) , pp. 583-593. 10.1016/j.modgep.2004.01.015

Benson, Matthew A., Sillitoe, Roy V. and Blake, Derek J 2004. Schizophrenia genetics: dysbindin under the microscope. Trends in Neurosciences 27 (9) , pp. 516-519. 10.1016/j.tins.2004.06.004

Talbot, Konrad, Eidem, Wess L., Tinsley, Caroline L., Benson, Matthew A., Thompson, Edward W., Smith, Rachel J., Hahn, Chang-Gyu, Siegel, Steven J., Trojanowski, John Q., Gur, Raquel E., Blake, Derek J. and Arnold, Steven E. 2004. Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia. The Journal of Clinical Investigation 113 (9) , pp. 1353-1363. 10.1172/JCI200420425
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Talbot, Konrad, Eidem, Wess L., Tinsley, Caroline L., Benson, Matthew A., Thompson, Edward W., Smith, Rachel J., Hahn, Chang-Gyu, Siegel, Steven J., Trojanowski, John Q., Gur, Raquel E., Blake, Derek and Arnold, Steven E. 2004. Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia. The Journal of Clinical Investigation 113 (9) , pp. 1353-1363. 10.1172/JCI200420425

Benson, Matthew A., Tinsley, Caroline L. and Blake, Derek J. 2004. Myospryn is a novel binding partner for dysbindin in muscle. Journal of Biological Chemistry 279 (11) , pp. 10450-10458. 10.1074/jbc.M312664200

Esapa, Chris T., Bentham, Graham R. B., Schröder, Jörn E., Kröger, Stephan and Blake, Derek J. 2003. The effects of post-translational processing on dystroglycan synthesis and trafficking. FEBS Letters 555 (2) , pp. 209-216. 10.1016/S0014-5793(03)01230-4

Burgueno, Javier, Blake, Derek J., Benson, Matthew A., Tinsley, Caroline L., Esapa, Christopher T., Canela, Enric I., Penela, Petronila, Mallol, Josefa, Mayor Jr., Federico, Lluis, Carmen, Franco, Rafael and Ciruela, Francisco 2003. The adenosine A2A receptor interacts with the actin-binding protein  α-actinin. Journal of Biological Chemistry 278 (39) , pp. 37545-37552. 10.1074/jbc.M302809200

Muntoni, F, Valero de Bernabe, B, Bittner, R, Blake, Derek J, van Bokhoven, H, Brockington, M, Brown, S, Bushby, K, Campbell, K.P, Fiszman, M, Gruenewald, S, Merlini, L, Quijano-Roy, S, Romero, N, Sabatelli, P, Sewry, C.A, Straub, V, Talim, B, Topaloglu, H, Voit, T, Yurchenco, P.D, Urtizberea, J.A, Wewer, U.M and Guicheney, P 2003. 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17?19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). Neuromuscular Disorders 13 (7-8) , pp. 579-588. 10.1016/S0960-8966(03)00072-5

Li, Wei, Zhang, Qing, Oiso, Naoki, Novak, Edward K., Gautam, Rashi, O'Brien, Edward P., Tinsley, Caroline L., Blake, Derek J., Spritz, Richard A., Copeland, Neal G., Jenkins, Nancy A., Amato, Dominick, Roe, Bruce A., Starcevic, Marta, Dell'Angelica, Esteban C., Elliott, Rosemary W., Mishra, Vishnu, Kingsmore, Stephen F., Paylor, Richard E. and Swank, Richard T. 2003. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) [Letter]. Nature Genetics 35 (1) , pp. 84-89. 10.1038/ng1229

Sillitoe, Roy V., Benson, Matthew A., Blake, Derek J. and Hawkes, Richard 2003. Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy. Journal of Neuroscience 23 (16) , pp. 6576-6585.
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Sillitoe, R.V., Benson, M.A., Blake, Derek J and Hawkes, R. 2003. Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy. Journal of Neuroscience 23 (16) , pp. 6576-6585.

Mercuri, Eugenio, Brockington, Martin, Straub, Volker, Quijano-Roy, Susana, Yuva, Yeliz, Herrmann, Ralf, Brown, Susan C., Torelli, Silvia, Dubowitz, Victor, Blake, Derek J., Romero, Norma B., Estournet, Brigitte, Sewry, Caroline A., Guicheney, Pascale, Voit, Thomas and Muntoni, Francesco 2003. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Annals of Neurology 53 (4) , pp. 537-542. 10.1002/ana.10559

Martin-Rendon, Enca and Blake, Derek J. 2003. Protein glycosylation in disease: new insights into the congenital muscular dystrophies. Trends in Pharmacological Sciences 24 (4) , pp. 178-183. 10.1016/S0165-6147(03)00050-6

Topaloglu, H., Brockington, M., Yuva, Y., Talim, B., Haliloglu, G., Blake, Derek J, Torelli, S., Brown, S.C. and Muntoni, F. 2003. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology 60 (6) , pp. 988-992. 10.1212/01.WNL.0000052996.14099.DC

Blake, Derek J., Martin-Rendon, E., Schroder, J. E. and Benson, M. A. 2002. Functional requirements for fukutin-related protein in the Golgi apparatus. Human Molecular Genetics 11 (26) , pp. 3319-3331. 10.1093/hmg/11.26.3319

Muntoni, Francesco, Brockington, Martin, Blake, Derek J., Torelli, Silvia and Brown, Susan C. 2002. Defective glycosylation in muscular dystrophy. The Lancet 360 (9343) , pp. 1419-1421. 10.1016/S0140-6736(02)11397-3

Blake, Derek J 2002. Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy? Neuromuscular Disorders 12 , S110. 10.1016/S0960-8966(02)00091-3

Blake, Derek J. and Martin-Rendon, Enca 2002. Intermediate filaments and the function of the dystrophin-protein complex. Trends in Cardiovascular Medicine 12 (5) , pp. 224-228. 10.1016/S1050-1738(02)00166-4

Blank, M., Blake, Derek J. and Kröger, S. 2002. Molecular diversity of the dystrophin-like protein complex in the developing and adult avian retina. Neuroscience 111 (2) , pp. 259-273. 10.1016/S0306-4522(02)00032-5

Blake, Derek J., Weir, Andrew, Newey, Sarah E. and Davies, Kay E. 2002. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiological Reviews 82 (2) , pp. 291-329. 10.1152/physrev.00028.2001

Brockington, M., Blake, Derek J., Brown, Susan C. and Muntoni, Francesco 2002. The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I [Editorial]. Neuromuscular Disorders 12 (3) , pp. 233-234. 10.1016/S0960-8966(01)00325-X

Marangi, P. Angelo, Forsayeth, John R., Mittaud, Peggy, Erb-Vögtli, Susanne, Blake, Derek J., Moransard, Martijn, Sander, Andreas and Fuhrer, Christian 2001. Acetylcholine receptors are required for agrin-induced clustering of postsynaptic proteins. The EMBO Journal 20 (24) , pp. 7060-7073. 10.1093/emboj/20.24.7060

Brockington, Martin, Blake, Derek J., Prandini, Paola, Brown, Susan C., Torelli, Silvia, Benson, Matthew A., Ponting, Chris P., Estournet, Brigitte, Romero, Norma B., Mercuri, Eugenio, Voit, Thomas, Sewry, Caroline A., Guicheney, Pascale and Muntoni, Francesco 2001. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin 2 deficiency and abnormal glycosylation of -dystroglycan. American Journal of Human Genetics 69 (6) , pp. 1198-1209. 10.1086/324412

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. Human Molecular Genetics 10 (25) , pp. 2851-2859. 10.1093/hmg/10.25.2851

Blake, Derek J, Brockington, M, Muntoni, F and Benson, M. A. 2001. Golgi-localisation of fukutin and fukutin-related protein: implications for muscular dystrophy. Molecular Biology of the Cell 12 , 85A-85A.

Loh, Nellie Y., Nebenius-Oosthuizen, Daniela, Blake, Derek J., Smith, Andrew J. H. and Davies, Kay E. 2001. Role of β-dystrobrevin in nonmuscle dystrophin-associated protein complex-like complexes in kidney and liver. Molecular and Cellular Biology 21 (21) , pp. 7442-7448. 10.1128/MCB.21.21.7442-7448.2001
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Brickington, M., Blake, Derek J., Prandini, P., Brown, S. C., Torelli, S., Benson, M. A., Ponting, C.P., Estournet, B., Romero, N., Voit, T., Sewry, C. A., Guincheney, P. and Muntoni, F. 2001. A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. American Journal of Human Genetics 69 (4) , p. 229.

Brockington, Martin, Prandini, P., Brown, Susan C., Sewry, Caroline A., Blake, Derek J. and Muntoni, Francesco 2001. A new gene encoding a fukutin-like protein and its analysis in patients with congenital muscular dystrophy [Abstract]. Neuromuscular Disorders 11 (6-7) , p. 635.

Benson, Matthew A., Newey, Sarah E., Martin-Rendon, Enca, Hawkes, Richard and Blake, Derek J. 2001. Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. Journal of Biological Chemistry 276 (26) , pp. 24232-24241. 10.1074/jbc.M010418200

Newey, S. E., Howman, E. V., Ponting, C. P., Benson, M. A., Nawrotzki, R., Loh, N. Y., Davies, K. E. and Blake, Derek J 2001. Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle. Journal of Biological Chemistry 276 (9) , pp. 6645-6655. 10.1074/jbc.M008305200

Newey, Sarah E., Howman, Emily V., Ponting, Chris P., Benson, Matthew A., Nawrotzki, Ralph, Loh, Nellie Y., Davies, Kay E. and Blake, Derek J. 2001. Syncoilin, a novel member of the intermediate filament superfamily that interacts with α-dystrobrevin in skeletal muscle. Journal of Biological Chemistry 276 (9) , pp. 6645-6655. 10.1074/jbc.M008305200

Newey, S. E., Gramolini, A. O., Wu, J., Holzfeind, P., Jasmin, B. J., Davies, K. E. and Blake, Derek J. 2001. A novel mechanism for modulating synaptic gene expression: differential localization of alpha-dystrobrevin transcripts in skeletal muscle. Molecular and Cellular Neuroscience 17 (1) , pp. 127-140. 10.1212/01.wnl.0000302174.08951.cf.

Newey, Sarah E., Gramolini, Anthony O., Wu, Jun, Holzfiend, Paul, Jasmin, Bernard J., Davies, Kay E. and Blake, Derek J. 2001. A novel mechanism for modulating synaptic gene expression: differential localization of α-dystrobrevin transcripts in skeletal muscle. Molecular and Cellular Neuroscience 17 (1) , pp. 127-140. 10.1006/mcne.2000.0918

Newey, Sarah E., Benson, Matthew A., Ponting, Chris P., Davies, Kay E. and Blake, Derek J. 2000. Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex. Current Biology 10 (20) , pp. 1295-1298. 10.1016/S0960-9822(00)00760-0

Loh, Nellie Y., Newey, Sarah E., Davies, Kay E. and Blake, Derek J. 2000. Assembly of multiple dystrobrevin-containing complexes in the kidney. Journal of Cell Science 113 (15) , pp. 2715-2724.

Blake, Derek J. and Kröger, Stephan 2000. The neurobiology of Duchenne muscular dystrophy: learning lessons from muscle? Trends in Neurosciences 23 (3) , pp. 92-99. 10.1016/S0166-2236(99)01510-6

Blake, Derek J., Hawkes, Richard, Benson, Matthew A. and Beesley, Phillip W. 1999. Different dystrophin-like complexes are expressed in neurons and glia. Journal of Cell Biology 147 (3) , pp. 645-658. 10.1083/jcb.147.3.645
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Blank, Martina, Koulen, Peter, Blake, Derek J. and Kröger, Stephan 1999. Dystrophin and beta-dystroglycan in photoreceptor terminals from normal and mdx3Cv mouse retinae. European Journal of Neuroscience 11 (6) , pp. 2121-2133. 10.1046/j.1460-9568.1999.00636.x

Holzfeind, Paul J., Ambrose, Helen J., Newey, Sarah E., Nawrotzki, Ralph A., Blake, Derek J. and Davies, Kay E. 1999. Tissue-selective Expression of alpha-Dystrobrevin is Determined by Multiple Promoters. Journal of Biological Chemistry 274 (10) , pp. 6250-6258. 10.1074/jbc.274.10.6250

Blake, Derek J, Benson, M. A., Hawkes, R. and Beesley, P. W. 1999. Dystrophin-binding proteins in the brain. Journal of Neurochemistry 73 , S93-S93.

Loh, N. Y., Ambrose, H. J., Guay-Woodford, L. M., DasGupta, S., Nawrotzki, R. A., Blake, Derek J and Davies, K. E. 1998. Genomic organization and refined mapping of the mouse beta-dystrobrevin gene. Mammalian Genome 9 (11) , pp. 857-862.

Loh, Nellie Y., Ambrose, Helen J., Guay-Woodford, Lisa M., DasGupta, Srimita, Nawrotzki, Ralph A., Blake, Derek J. and Davies, Kay E. 1998. Genomic organization and refined mapping of the mouse β-dystrobrevin gene. Mammalian Genome 9 (11) , pp. 857-862. 10.1007/s003359900883

Nawrotzki, Ralph, Loh, Nellie Y., Ruegg, M. A., Davies, Kay E. and Blake, Derek J. 1998. Characterisation of alpha-dystrobrevin in muscle. Journal of Cell Science 111 (17) , pp. 2595-2605.

Vater, Ruth, Young, Carol, Anderson, Louise V. B., Lindsay, Susan, Blake, Derek J., Davies, Kay E., Zuellig, Richard and Slater, Clarke R. 1998. Utrophin mRNA expression in muscle is not restricted to the neuromuscular junction. Molecular and Cellular Neuroscience 10 (5-6) , pp. 229-242. 10.1006/mcne.1998.0661

Blake, Derek J, Nawrotzki, R., Loh, N. Y., Gorecki, D. C. and Davies, K. E. 1998. beta-dystrobrevin, a member of the dystrophin-related protein family. Proceedings of the National Academy of Sciences of the United States of America 95 (1) , pp. 241-246. 10.1073/pnas.95.1.241

Blake, Derek J, Nawrotzki, Ralph, Loh, Nellie Y., Gorecki, Dariusz C. and Davies, Kay E. 1998. β-dystrobrevin, a member of the dystrophin-related protein family. Proceedings of the National Academy of Sciences of the United States of America 95 (1) , pp. 241-246.

Blake, Derek J, Loh, N. Y., Beesley, P. and Davies, K. E. 1997. The function dystrophin-related and -associated proteins in the brain. Journal of Neurochemistry 69 (S) , S123-S123.

Blake, Derek J, Nawrotzki, R., Loh, N. Y. and Davies, K. E. 1997. A novel dystrophin-associated protein in brain. American Journal of Human Genetics 61 (4) , A8-A8.

Loh, N. Y., Blake, Derek J, Nawrotzki, R., Ambrose, H. J. and Davies, K. E. 1997. Beta-dystrobrevin; a new member of the dystrophin-related protein family. American Journal of Human Genetics 61 (4) , A177-A177.

Metzinger, Laurent, Blake, Derek J., Squier, Marian V., Anderson, Louise V. B., Deconinck, Anne E., Nawrotzki, Ralph, Hilton-Jones, David and Davies, Kay E. 1997. Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. Human Molecular Genetics 6 (7) , pp. 1185-1191. 10.1093/hmg/6.7.1185

Ponting, Christopher P., Phillips, Christopher, Davies, Kay E. and Blake, Derek J. 1997. PDZ domains: targeting signalling molecules to sub-membranous sites. Bioessays 19 (6) , pp. 469-479. 10.1002/bies.950190606

Ambrose, Helen J., Blake, Derek J., Nawrotzki, Ralph A. and Davies, Kay E. 1997. Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene. Genomics 39 (3) , pp. 359-369. 10.1006/geno.1996.4515

Picketts, David J., Higgs, Douglas R., Bachoo, Satvinder, Blake, Derek J., Quarrel, Oliver W. J. and Gibbons, Richard J. 1996. ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Human Molecular Genetics 5 (12) , pp. 1899-1907. 10.1093/hmg/5.12.1899

Morrison, K. E., Qureshi, S. J., Anderson, S., Borrett, J. P., Theodosiou, A., Rodrigues, N., Blake, Derek J, Nesbit, A., Davies, K. E., Porteous, D. J. and Brookes, A. J. 1996. Novel transcribed sequences represented in the complex genomic region 5q13. Acta Biochimica et Biophysica 1308 (2) , pp. 97-102. 10.1016/0167-4781(96)00097-8

Nawrotzki, Ralph, Blake, Derek J. and Davies, Kay E. 1996. The genetic basis of neuromuscular disorders. Trends in Genetics 12 (8) , pp. 294-298. 10.1016/0168-9525(96)10033-0

Theodosiou, A. M., Rodrigues, N. R., Nesbit, M. A., Ambrose, Helen J., Paterson, H., McLellan-Arnold, E., Boyd, Y., Leversha, M. A., Owen, N., Blake, Derek J., Ashworth, A. and Davies, Kay E. 1996. A member of the MAP kinase phosphatase gene family in mouse containing a complex trinucleotide repeat in the coding region. Human Molecular Genetics 5 (5) , pp. 675-684. 10.1093/hmg/5.5.675

Blake, Derek J., Nawrotzki, Ralph A., Peters, Matthew F., Froehner, Stanley C. and Davies, Kay E. 1996. Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein. Journal of Biological Chemistry 271 (13) , pp. 7802-7810. 10.1074/jbc.271.13.7802

Zuelling, R. A., Blake, Derek J, Tinsley, J. M. and Davies, K. E. 1996. Cloning of the rat utrophin and characterization of an alternate transcript. Journal of Muscle Research and Cell Motility 17 (1) , p. 110.

Zuellig, Richard A., Blake, Derek J., Tinsley, Jonathon M. and Davies, Kay E. 1996. Cloning of the rat utrophin and characterization of an alternate transcript. Journal of Muscle Research and Cell Motility 17 (1) , p. 110.

Blake, Derek J., Tinsley, Jonathon M. and Davies, Kay E. 1996. Utrophin: a structural and functional comparison to dystrophin. Brain Pathology 6 (1) , pp. 37-47. 10.1111/j.1750-3639.1996.tb00781.x

Ponting, Chris P., Blake, Derek J., Davies, Kay E., Kendrick-Jones, John and Winder, Steven J. 1996. ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins. Trends in Biochemical Sciences 21 (1) , pp. 11-13. 10.1016/S0968-0004(06)80020-4

Millwood, I. Y., Blake, Derek J., Gauguier, D. and Monaco, A. P. 1995. Two polymorphic dinucleotide repeats in the rat dystrophin gene, including the conserved 3' UTR repeat. Mammalian Genome 6 (9) , pp. 668-669.

Davies, K. E., Tinsley, J. M. and Blake, Derek J 1995. Molecular analysis of Duchenne muscular dystrophy: past, present, and future. Annals of the New York Academy of Sciences 758 , pp. 287-296. 10.1111/j.1749-6632.1995.tb24834.x

Blake, Derek J., Schofield, Julian N., Zuellig, Richard A., Górecki, Dariusz C., Phelps, S. R., Barnard, E. A., Edwards, Y. H. and Davies, Kay E. 1995. G-Utrophin, the autosomal homologue of dystrophin Dp116, is expressed in sensory ganglia and brain. Proceedings of the National Academy of Sciences of the United States of America 92 (9) , pp. 3697-3701. 10.1073/pnas.92.9.3697

Blake, Derek J., Tinsley, Jonathon M., Davies, Kay E., Knight, Alex E., Winder, Stephen J. and Kendrick-Jones, John 1995. Coiled-coil regions in the carboxy-terminal domains of dystrophin and related proteins: potentials for protein-protein interactions. Trends in Biochemical Sciences 20 (4) , pp. 133-135. 10.1016/S0968-0004(00)88986-0

Pasquini, F., Guerin, C., Blake, Derek J, Davies, K., Karpati, G. and Holland, P. 1995. The effect of glucocorticoids on the accumulation of utrophin by cultured normal and dystrophic human skeletal muscle satellite cells. Neuromuscular Disorders 5 (2) , pp. 105-114. 10.1016/0960-8966(94)00042-8

Brookes, A. J., Slorach, E. M., Morrison, K. E., Qureshi, S. J., Blake, Derek J, Davies, K. and Porteous, D. J. 1994. Cloning the shared components of complex DNA resources. Human Molecular Genetics 3 (11) , pp. 2011-2017. 10.1093/hmg/3.11.2011

Tinsley, Jonathon M, Blake, Derek J., Zuellig, Richard A. and Davies, Kay E. 1994. Increasing complexity of the dystrophin-associated protein complex. Proceedings of the National Academy of Sciences of the United States of America 91 (18) , pp. 8307-8313.

Schofield, Julian N., Blake, Derek J., Simmons, Catherine, Morris, Glenn E., Tinsley, Jonathon M., Davies, Kay E. and Edwards, Yvonne H. 1994. Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines. Human Molecular Genetics 3 (8) , pp. 1309-1316. 10.1093/hmg/3.8.1309

Davies, K.E., Tinsley, J, Blake, Derek J, Pearce, M, Deconick, A and Dennis, C 1994. Possible roles for utrophin in gene-therapy of duchenne muscular-dystrophy. Journal of Cellular Biochemistry 1994 (18A) , p. 188.

Blake, Derek J, Tinsley, Jonathon M. and Davies, Kay E. 1994. The emerging family of dystrophin-related proteins. Trends in Cell Biology 4 (1) , pp. 19-23. 10.1016/0962-8924(94)90034-5

Pearce, Marcela, Blake, Derek J., Tinsley, Jonathon M., Byth, Barbara C., Campbell, Louise, Monaco, Anthony P. and Davies, Kay E. 1993. The utrophin and dystrophin genes share similarities in genomic structure. Human Molecular Genetics 2 (11) , pp. 1765-1772. 10.1093/hmg/2.11.1765

Tinsley, Jonathon M., Blake, Derek J., Pearce, Marcela, Knight, Alex E., Kendrick-Jones, John and Davies, Kay E. 1993. Dystrophin and related proteins. Current Opinion in Genetics & Development 3 (3) , pp. 484-490. 10.1016/0959-437X(93)90124-8

Tinsley, Jonathon M., Blake, Derek J. and Davies, Kay E. 1993. Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site. Human Molecular Genetics 2 (5) , pp. 521-524. 10.1093/hmg/2.5.521

Blake, Derek 1993. Dystrophin and dystrophin-related proteins: a review of protein and RNA studies. Neuromuscular Disorders 3 (1) , pp. 5-21. 10.1016/0960-8966(93)90037-K

Blake, Derek J., Love, Donald R., Tinsley, Jonathon, Morris, Glenn E., Turley, Helen, Gatter, Kevin, Dickson, George, Edwards, Yvonne H. and Davies, Kay E. 1992. Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells. Human Molecular Genetics 1 (2) , pp. 103-109. 10.1093/hmg/1.2.103

Tinsley, Jonathon M., Blake, Derek J., Roche, A., Fairbrother, U., Riss, J., Byth, Barbara C., Knight, Alex E., Kendrick-Jones, John, Suthers, G. K., Love, Donald R., Edwards, Y. H. and Davies, Kay E. 1992. Primary structure of dystrophin-related protein. Nature 360 (6404) , pp. 591-593. 10.1038/360591a0

thi Man, Nguyen, Thanh, LeThiet, Blake, Derek J., Davies, K .E. and Morris, G. E. 1992. Utrophin, the autosomal homologue of dystrophin, is widely-expressed and membrane-associated in cultured cell lines. FEBS Letters 313 (1) , pp. 19-22. 10.1016/0014-5793(92)81174-K

Coleman, M. P., Murray, J. C., Willard, H. F., Nolan, K. F., Reid, K. B. M., Blake, Derek J., Lindsay, S., Bhattacharya, S. S., Wright, A. and Davies, K. E. 1991. Genetic and physical mapping around the properdin P gene. Genomics 11 (4) , pp. 991-996. 10.1016/0888-7543(91)90024-9

Sellar, G. C., Blake, Derek J. and Reid, K. B. 1991. 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. Biochemical Journal 274 (2) , pp. 481-490.

Sellar, G C, Blake, Derek J and Reid, K B 1991. 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. Biochemical Journal 274 (2) , pp. 481-490. 10.1042/bj2740481

Knott, V., Blake, Derek J. and Brownlee, G. G. 1989. Completion of the detailed restriction map of the E.coli genome by the isolation of overlapping cosmid clones. Nucleic Acids Research 17 (15) , pp. 5901-5912. 10.1093/nar/17.15.5901

Blake, Derek J and Brownlee, G.G. 1989. Deletion of the mcf.2 transforming gene in 2 hemophilia-b inhibitor patients. Cytogenetics and Cell Genetics 51 (1-4) , p. 963.

Blake, Derek J. and Brownlee, G. G. 1989. Deletion of the MCF.2 transforming gene in 2 Hemophilia-B inhibitor patients [Abstract]. Cytogenetics and Cell Genetics 51 (1-4) , p. 963.

Anson, D.S., Blake, Derek J, Winship, P.R., Birnbaum, D. and Brownlee, G.G. 1988. Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients. EMBO Journal 7 (9) , pp. 2795-2799.

Anson, D. S., Blake, Derek J., Winship, P. R., Birnbaum, D. and Brownlee, G. G. 1988. Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients. EMBO Journal 7 (9) , pp. 2795-2799.

Blake, Derek J, Knott, V. and Brownlee, G.G. 1987. A random cosmid contig approach to gene-mapping. Cytogenetics and Cell Genetics 46 (1) , p. 581.

Blake, Derek J., Knott, V. and Brownlee, G. 1987. A random cosmid contig approach to gene-mapping [Abstract]. Cytogenetics and Cell Genetics 46 (1-4) , p. 581. 10.1159/000316989

This list was generated on Tue Mar 26 04:19:27 2019 GMT.