Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by earl... von Oates, E, Yau, K, Donkervoort, S, Swanson, L, Brammah, S, Topf, A, Richard, I, Ferreiro, A, Hoffman, E, Bushby, K, Straub, V, Udd, B, Lek, M, MacArthur, D, Granzier, H, Beggs, A, Bonnemann, C, North, K, Davis, M, Laing, N

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Clinical characterisation of a large international congenital titinopathy cohort von Oates, E.C, Yau, K.S, Jones, K, Smith, J.E, Donkervoort, S, Swanson, L, Charlton, A, Brammah, S, Peduto, A.J, Richard, I, Ferreiro, A, Hoffman, E, Bushby, K, Straub, V, Udd, B, Lek, M, MacArthur, D.G, Granzier, H, Beggs, A, Bönnemann, C.G, North, K.N, Davis, M.R, Laing, N.G

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G.P.35 von Oates, E.C, Yau, K.S, Charlton, A, Brammah, S, Farrar, M.A, Sampaio, H, Lamont, P.L, Mowat, D, Fitzsimons, R.B, Corbett, A, Ryan, M.M, Teoh, H.L, O’Grady, G.L, Ghaoui, R, Kaur, S, Lek, M, North, K.N, MacArthur, D.G, Davis, M.R, Laing, N.G, N.F. Clarke

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G.P.107 OPMD or OPDM: How to differentiate? von Wang, M.X, Brammah, S, Flanagan, S, Jahdhami, S, Pamphlett, R, Buckland, M.E

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G.P.68 Survival versus a fatal outcome in two cases of Anncaliia algerae microsporidial myositis von Watts, M, Chan, R, Cheong, E, Prowse, M.V, Bertouch, J.V, Field, A.S, Stark, D, Brammah, S, Clezy, K, Tong, C.W, Outhred, A.C, Tobias, V, Reddel, S.W

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A Novel System for Assigning the Mode of Inheritance in Mitochondrial Disorders Using Cybrids and Rhodamine 6G von Williams, Andrew J., Murrell, Melanie, Brammah, Susan, Minchenko, Jim, Christodoulou, John

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Investigation of SARS-CoV-2 faecal shedding in the community: a prospective household cohort study (COVID-LIV) in the UK von Vaselli, Natasha Marcella, Setiabudi, Wega, Subramaniam, Krishanthi, Adams, Emily R, Turtle, Lance, Iturriza-Gómara, Miren, Solomon, Tom, Cunliffe, Nigel A, French, Neil, Hungerford, Daniel

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S.O.2 - Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated... von Oates, E., Yau, K., Donkervoort, S., Swanson, L., Brammah, S., Topf, A., Richard, I., Ferreiro, A., Hoffman, E., Bushby, K., Straub, V., Udd, B., Lek, M., MacArthur, D., Granzier, H., Beggs, A., Bonnemann, C., North, K., Davis, M., Laing, N.

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Congenital titinopathy: comprehensive characterisation and pathogenic insights von Oates, EC, Jones, KJ, Donkervoort, S, Charlton, A, Brammah, S, Smith, JE, Ware, JS, Yau, KS, Swanson, LC, Whiffin, N, Peduto, AJ, Bournazozs, A, Waddell, LB, Farrar, MA, Sampaio, HA, Teoh, HL, Lamont, PJ, Mowat, D, Fitzsimons, RB, Corbett, AJ, Ryan, MM, O'Grady, GL, Sandaradura, SA, Ghaoui, R, Joshi, HB, Marshall, JL, Nolan, MA, Kaur, S, Punetha, J, Topf, A, Harris, E, Bakshi, M, Genetti, CA, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, JR, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, ME, Foley, AR, Bharucha-Goebel, D, Collins, J, Connolly, AM, Gilbreath, HR, Iannaccone, ST, Castro, D, Cummings, BB, Webster, RI, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H, Thomas, NH, Foulds, NC, Illingworth, MA, McLean, CA, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, ST, Kamsteeg, EJ, Hoffman, EP, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, KN, Clarke, NF, Lek, M, Beggs, AH, Bonnermann, CG, MacArthur, DG, Granzier, H, Davis, MR, Laing, NG

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OD01 - Clinical characterisation of a large international congenital titinopathy cohort von Oates, E.C., Yau, K.S., Jones, K., Smith, J.E., Donkervoort, S., Swanson, L., Charlton, A., Brammah, S., Peduto, A.J., Richard, I., Ferreiro, A., Hoffman, E., Bushby, K., Straub, V., Udd, B., Lek, M., MacArthur, D.G., Granzier, H., Beggs, A., Bönnemann, C.G., North, K.N., Davis, M.R., Laing, N.G.

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Prospective observational study of SARS-CoV-2 infection, transmission and immunity in a cohort of households in Liverpool City Region, UK (COVID-LIV): a study protocol von Setiabudi, Wega, Hungerford, Daniel, Subramaniam, Krishanthi, Vaselli, Natasha Marcella, Shaw, Victoria E, Vivancos, Roberto, Aston, Stephen, Moitt, Tracy, Jones, Ashley P, Gabbay, Mark, Buchan, Iain, Carrol, Enitan D, Iturriza-Gomara, Miren, Solomon, Tom, Greenhalf, William, Naisbitt, Dean J, Adams, Emily R, Cunliffe, Nigel A, Turtle, Lance, French, Neil, Turtle, Lance, Hungerford, Daniel, Subramaniam, Krishanthi, Vivancos, Roberto, Carrol, Enitan D, Iturriza-Gomara, Miren, Solomon, Tom, Cunliffe, Nigel A, Gamble, Carrol, Crossley, Lynnette, Joseph, Neil, Setiabudi, Wega, Wilton, Moon, Troughton, Lee D, Kilada, Samantha, Abba, Katharine, Simpson, Victoria, Tulloch, John S P, Goodwin, Lynsey, Daws, Rachael, Forootan, Shiva S, Dobson, Susan, Press, Rachel, Spaine, Vida, Hands, Lesley, Bradfield, Kate, McNally, Carol, Moitt, Tracy, Balabanova, Silviya, Donohue, Chloe, Finnetty, Lynsey, Marsh, Laura, Greenhalf, William, Shaw, Victoria E, Aston, Stephen, Platt, Gareth, Thomson, Paul J, Ogese, Monday, Hammond, Sean, Farrell, Liam, Gardner, Joshua, Jaruthamsophon, Kanoot, Ali, Serat-E, Lister, Adam, Booth, Laura, Ashworth, Milton, Catterall, Benjamin W A, Lavelle-Langham, Lara, Middleton, Joanna, Reynolds, William, Cass, Emily, Carracedo, Alejandra Doce, Davies, Lianne, Flaherty, Lisa, Oates, Melanie, Maziere, Nicole, Lloyd, Jennifer, Jones, Christopher, Massey, Hannah, Holmes, Anthony, Carlucci, Nicola, Brammah, Vanessa, Ramos, Yasmyn, Allen, Daniel, Howarth, Debbie, Jones, Jayne, Slack, Iain, McLaughlin, Simone, Mason, Jessica, Edwards, Thomas, McKeown, Claudia, Hendrick, Elysse, Williams, Chris, Byrne, Rachel, Buist, Kate, Garrod, Gala, Owen, Sophie, Jones, Ashley P, Gkioni, Efstathia, French, Neil

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Nuclear magnetic resonance-visible lipids induced by cationic lipophilic chemotherapeutic agents are accompanied by increased lipid droplet formation and damaged mitochondria von Delikatny, Edward J, Cooper, Wendy A, Brammah, Susan, Sathasivam, Nalayini, Rideout, Darryl C

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G.P.35: Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologies von Oates, E.C., Yau, K.S., Charlton, A., Brammah, S., Farrar, M.A., Sampaio, H., Lamont, P.L., Mowat, D., Fitzsimons, R.B., Corbett, A., Ryan, M.M., Teoh, H.L., O’Grady, G.L., Ghaoui, R., Kaur, S., Lek, M., North, K.N., MacArthur, D.G., Davis, M.R., Laing, N.G., N.F. Clarke

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Camptocormia as an unusual manifestation of myofibrillar myopathy von Myint, E., Nguyen, T.V., Lee, H.J., Brammah, S., Pamphlett, R., Wang, M.

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Inhibition of tetraphenylphosphonium-induced NMR-visible lipid accumulation in human breast cells by chlorpromazine von Sathasivam, Nalayini, Brammah, Susan, Wright, Lesley C, Delikatny, Edward J

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An in vitro study of ovarian atypical proliferating (borderline) serous tumors von VAN HAAFTEN-DAY, C., RUSSELL, P., DAVIES, S., BRAMMAH-CARR, S.

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Condylomata acuminata of the urinary bladder with HPV 11 von Karim, Rooshdiya Z., Rose, Barbara R., Brammah, Susan, Scolyer, Richard A.

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Tactile Corpuscle-Like Bodies in Colonic Mucosa von Wills, E. J., Croker, J., Brammah, Susan

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Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features von Berkovic, SF, Oliver, KL, Canafoglia, L, Krieger, P, Damiano, JA, Hildebrand, MS, Morbin, M, Vears, DF, Sofia, V, Giuliano, L, Garavaglia, B, Simonati, A, Santorelli, FM, Gambardella, A, Labate, A, Belcastro, V, Castellotti, B, Ozkara, C, Zeman, A, Rankin, J, Mole, SE, Aguglia, U, Farrell, M, Rajagopalan, S, McDougall, A, Brammah, S, Andermann, F, Andermann, E, Dahl, H-HM, Franceschetti, S, Carpenter, S

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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations von Palmer, EE, Kumar, R, Gordon, CT, Shaw, M, Hubert, L, Carroll, R, Rio, M, Murray, L, Leffler, M, Dudding-Byth, T, Oufadem, M, Lalani, SR, Lewis, AM, Xia, F, Tam, A, Webster, R, Brammah, S, Filippini, F, Pollard, J, Spies, J, Minoche, AE, Cowley, MJ, Risen, S, Powell-Hamilton, NN, Tusi, JE, Immken, LD, Nagakura, H, Bole-Feysot, C, Nitschké, P, Garrigue, A, de Saint Basile, G, Kivuva, E, Scott, RH, Rendon, A, Munnich, A, Newman, W, Kerr, B, Besmond, C, Rosenfeld, JA, Amiel, J, Field, M, Gecz, J, Palmer, Elizabeth

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