Anncaliia algerae Microsporidial Myositis, New South Wales, Australia von Sutrave, Gaurav, Maundrell, Adam, Keighley, Caitlin, Jennings, Zoe, Brammah, Susan, Wang, Min-Xia, Pamphlett, Roger, Webb, Cameron E, Stark, Damien, Englert, Helen, Gottlieb, David, Bilmon, Ian, Watts, Matthew R

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Anncaliia algerae microsporidial myositis von Watts, Matthew R, Chan, Renee C F, Cheong, Elaine Y L, Brammah, Susan, Clezy, Kate R, Tong, Chiwai, Marriott, Deborah, Webb, Cameron E, Chacko, Bobby, Tobias, Vivienne, Outhred, Alexander C, Field, Andrew S, Prowse, Michael V, Bertouch, James V, Stark, Damien, Reddel, Stephen W

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Burns, biofilm and a new appraisal of burn wound sepsis von Kennedy, Peter, Brammah, Susan, Wills, Edward

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Congenital Titinopathy: Comprehensive characterization and pathogenic insights von Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.

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Glioma microvesicles carry selectively packaged coding and non-coding RNAs which alter gene expression in recipient cells von Li, Cheryl CY, Eaton, Sally A, Young, Paul E, Lee, Maggie, Shuttleworth, Rupert, Humphreys, David T, Grau, Georges E, Combes, Valery, Bebawy, Mary, Gong, Joyce, Brammah, Susan, Buckland, Michael E, Suter, Catherine M

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Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications von Farrar, Michelle A, Teoh, Hooi Ling, Brammah, Susan, Roscioli, Tony, Cardamone, Michael

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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant von Sandaradura, Sarah A., Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B., Waddell, Leigh B., Jones, Kristi J., Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M., Peters, Gregory B., Algar, Elizabeth M., MacArthur, Daniel G., North, Kathryn N., Brammah, Susan, Charlton, Amanda, Laing, Nigel G., Wilson, Meredith J., Davis, Mark R., Cooper, Sandra T.

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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum von Coppens, Sandra, Deconinck, Nicolas, Sullivan, Patricia, Smolnikov, Andrei, Clayton, Joshua S, Griffin, Kaitlyn R, Jones, Kristi J, Vilain, Catheline N, Kadhim, Hazim, Bryen, Samantha J, Faiz, Fathimath, Waddell, Leigh B, Evesson, Frances J, Bakshi, Madhura, Pinner, Jason R, Charlton, Amanda, Brammah, Susan, Graf, Nicole S, Krivanek, Michael, Tay, Chee Geap, Foulds, Nicola C, Illingworth, Marjorie A, Thomas, Neil H, Ellard, Sian, Mazanti, Ingrid, Park, Soo-Mi, French, Courtney E, Brewster, Jennifer, Belteki, Gusztav, Hoodbhoy, Shazia, Allinson, Kieren, Krishnakumar, Deepa, Baynam, Gareth, Wood, Bradley M, Ward, Michelle, Vijayakumar, Kayal, Syed, Amber, Murugan, Archana, Majumdar, Anirban, Scurr, Ingrid J, Splitt, Miranda P, Moldovan, Corina, de Silva, Deepthi C, Senanayake, Kumudu, Gardeitchik, Thatjana, Arens, Yvonne, Cooper, Sandra T, Laing, Nigel G, Raymond, F Lucy, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Manzur, Adnan, Corley, Susan M, Ravenscroft, Gianina, Wilkins, Marc R, Cowley, Mark J, Pinese, Mark, Phadke, Rahul, Davis, Mark R, Muntoni, Francesco, Oates, Emily C

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Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features von Berkovic, Samuel F, Oliver, Karen L, Canafoglia, Laura, Krieger, Penina, Damiano, John A, Hildebrand, Michael S, Morbin, Michela, Vears, Danya F, Sofia, Vito, Giuliano, Loretta, Garavaglia, Barbara, Simonati, Alessandro, Santorelli, Filippo M, Gambardella, Antonio, Labate, Angelo, Belcastro, Vincenzo, Castellotti, Barbara, Ozkara, Cigdem, Zeman, Adam, Rankin, Julia, Mole, Sara E, Aguglia, Umberto, Farrell, Michael, Rajagopalan, Sulekha, McDougall, Alan, Brammah, Susan, Andermann, Frederick, Andermann, Eva, Dahl, Hans-Henrik M, Franceschetti, Silvana, Carpenter, Stirling

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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization von O’Grady, Gina L., Best, Heather A., Sztal, Tamar E., Schartner, Vanessa, Sanjuan-Vazquez, Myriam, Donkervoort, Sandra, Abath Neto, Osorio, Sutton, Roger Bryan, Ilkovski, Biljana, Romero, Norma Beatriz, Stojkovic, Tanya, Dastgir, Jahannaz, Waddell, Leigh B., Boland, Anne, Hu, Ying, Williams, Caitlin, Ruparelia, Avnika A., Maisonobe, Thierry, Peduto, Anthony J., Reddel, Stephen W., Lek, Monkol, Tukiainen, Taru, Cummings, Beryl B., Joshi, Himanshu, Nectoux, Juliette, Brammah, Susan, Deleuze, Jean-François, Ing, Viola Oorschot, Ramm, Georg, Ardicli, Didem, Nowak, Kristen J., Talim, Beril, Topaloglu, Haluk, Laing, Nigel G., North, Kathryn N., MacArthur, Daniel G., Friant, Sylvie, Clarke, Nigel F., Bryson-Richardson, Robert J., Bönnemann, Carsten G., Laporte, Jocelyn, Cooper, Sandra T.

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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin von Riley, Lisa G, Waddell, Leigh B, Ghaoui, Roula, Evesson, Frances J, Cummings, Beryl B, Bryen, Samantha J, Joshi, Himanshu, Wang, Min-Xia, Brammah, Susan, Kritharides, Leonard, Corbett, Alastair, MacArthur, Daniel G, Cooper, Sandra T

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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations von Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef

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Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy von Palmer, Elizabeth E, Jarrett, Kelsey E, Sachdev, Rani K, Al Zahrani, Fatema, Hashem, Mais Omar, Ibrahim, Niema, Sampaio, Hugo, Kandula, Tejaswi, Macintosh, Rebecca, Gupta, Rajat, Conlon, Donna M, Billheimer, Jeffrey T, Rader, Daniel J, Funato, Kouichi, Walkey, Christopher J, Lee, Chang Seok, Loo, Christine, Brammah, Susan, Elakis, George, Zhu, Ying, Buckley, Michael, Kirk, Edwin P, Bye, Ann, Alkuraya, Fowzan S, Roscioli, Tony, Lagor, William R

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Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features von Berkovic, Samuel F, Oliver, Karen L, Canafoglia, Laura, Krieger, Penina, Damiano, John A, Hildebrand, Michael S, Morbin, Michela, Vears, Danya F, Sofia, Vito, Giuliano, Loretta, Garavaglia, Barbara, Simonati, Alessandro, Santorelli, Filippo M, Gambardella, Antonio, Labate, Angelo, Belcastro, Vincenzo, Castellotti, Barbara, Ozkara, Cigdem, Zeman, Adam, Rankin, Julia, Mole, Sara E, Aguglia, Umberto, Farrell, Michael, Rajagopalan, Sulekha, McDougall, Alan, Brammah, Susan, Andermann, Frederick, Andermann, Eva, Dahl, Hans-Henrik M, Franceschetti, Silvana, Carpenter, Stirling

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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveￂ TNNT3ￂ splice variant von Sandaradura, Sarah A, Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B, Waddell, Leigh B, Jones, Kristi J, Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M, Peters, Gregory B, Algar, Elizabeth M, MacArthur, Daniel G, North, Kathryn N, Brammah, Susan, Charlton, Amanda, Laing, Nigel G, Wilson, Meredith J, Davis, Mark R, Cooper, Sandra T

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Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine von O'Grady, Gina L, Best, Heather A, Oates, Emily C, Kaur, Simranpreet, Charlton, Amanda, Brammah, Susan, Punetha, Jaya, Kesari, Akanchha, North, Kathryn N, Ilkovski, Biljana, Hoffman, Eric P, Clarke, Nigel F

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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations von Kumar, Raman, Gordon, Christopher T, Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R, Lewis, Andrea M, Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Spies, Judy, Minoche, Andre E, Cowley, Mark J, Risen, Sarah, Powell-Hamilton, Nina N, Tusi, Jessica E, Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A, Amiel, Jeanne, Gecz, Jozef

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Diagnosis by Electron Microscopy of Late Onset Pompe Disease with Previous Normal or Non Specific Muscle Biopsies by Light Microscopy von Corbett, Alastair, Brammah, Susan, Wang, Min-Xia, Pamphlett, Roger

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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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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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