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1. Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy

Author

Aitken, Jim, Allen, Zoe, Ambler, Rachel, Ambrose, Karen, Ashton, Emma, Avola, Alida, Balakrishnan, Samutheswari, Barns-Jenkins, Caitlin, Barr, Genevieve, Barrell, Sam, Basu, Souradeep, Beale, Rupert, Beesley, Clare, Bhardwaj, Nisha, Bibi, Shahnaz, Bineva-Todd, Ganka, Biswas, Dhruva, Blackman, Michael J., Bonnet, Dominique, Bowker, Faye, Broncel, Malgorzata, Brooks, Claire, Buck, Michael D., Buckton, Andrew, Budd, Timothy, Burrell, Alana, Busby, Louise, Bussi, Claudio, Butterworth, Simon, Byott, Matthew, Byrne, Fiona, Byrne, Richard, Caidan, Simon, Campbell, Joanna, Canton, Johnathan, Cardoso, Ana, Carter, Nick, Carvalho, Luiz, Carzaniga, Raffaella, Chandler, Natalie, Chen, Qu, Cherepanov, Peter, Churchward, Laura, Clark, Graham, Clayton, Bobbi, Cobolli Gigli, Clementina, Collins, Zena, Cottrell, Sally, Crawford, Margaret, Cubitt, Laura, Cullup, Tom, Davies, Heledd, Davis, Patrick, Davison, Dara, Dearing, Vicky, Debaisieux, Solene, Diaz-Romero, Monica, Dibbs, Alison, Diring, Jessica, Driscoll, Paul C., D'Avola, Annalisa, Earl, Christopher, Edwards, Amelia, Ekin, Chris, Evangelopoulos, Dimitrios, Faraway, Rupert, Fearns, Antony, Ferron, Aaron, Fidanis, Efthymios, Fitz, Dan, Fleming, James, Frampton, Daniel, Frederico, Bruno, Gaiba, Alessandra, Gait, Anthony, Gamblin, Steve, Gärtner, Kathleen, Gaul, Liam, Golding, Helen M., Goldman, Jacki, Goldstone, Robert, Gomez Dominguez, Belen, Gong, Hui, Grant, Paul R., Greco, Maria, Grobler, Mariana, Guedan, Anabel, Gutierrez, Maximiliano G., Hackett, Fiona, Hall, Ross, Halldorsson, Steinar, Harris, Suzanne, Hashim, Sugera, Hatipoglu, Emine, Healy, Lyn, Heaney, Judith, Herbst, Susanne, Hewitt, Graeme, Higgins, Theresa, Hindmarsh, Steve, Hirani, Rajnika, Hope, Joshua, Horton, Elizabeth, Hoskins, Beth, Howell, Michael, Howitt, Louise, Hoyle, Jacqueline, Htun, Mint R., Hubank, Michael, Huerga Encabo, Hector, Hughes, Deborah, Hughes, Jane, Huseynova, Almaz, Hwang, Ming-Shih, Instrell, Rachael, Jackson, Deborah, Jamal-Hanjani, Mariam, Jenkins, Lucy, Jiang, Ming, Johnson, Mark, Jones, Leigh, Kanu, Nnennaya, Kassiotis, George, Kelly, Gavin, Kiely, Louise, Teixeira, Anastacio King Spert, Kirk, Stuart, Kjaer, Svend, Knuepfer, Ellen, Komarov, Nikita, Kotzampaltiris, Paul, Kousis, Konstantinos, Krylova, Tammy, Kucharska, Ania, Labrum, Robyn, Lambe, Catherine, Lappin, Michelle, Lee, Stacey-Ann, Levett, Andrew, Levett, Lisa, Levi, Marcel, Liu, Hon Wing, Loughlin, Sam, Lu, Wei-Ting, MacRae, James I., Madoo, Akshay, Marczak, Julie A., Martensson, Mimmi, Martinez, Thomas, Marzook, Bishara, Matthews, John, Matz, Joachim M., McCall, Samuel, McCoy, Laura E., McKay, Fiona, McNamara, Edel C., Minutti, Carlos M., Mistry, Gita, Molina-Arcas, Miriam, Montaner, Beatriz, Montgomery, Kylie, Moore, Catherine, Moore, David, Moraiti, Anastasia, Moreira-Teixeira, Lucia, Mukherjee, Joyita, Naceur-Lombardelli, Cristina, Nelson, Aileen, Nicod, Jerome, Nightingale, Luke, Nofal, Stephanie, Nurse, Paul, Nutan, Savita, Oedekoven, Caroline, O'Garra, Anne, O'Leary, Jean D., Olsen, Jessica, O'Neill, Olga, O'Reilly, Nicola, Suarez, Paula Ordonez, Osborne, Neil, Pabari, Amar, Pajak, Aleksandra, Papayannopoulos, Venizelos, Paraskevopoulou, Stavroula M, Patel, Namita, Patel, Yogen, Paun, Oana, Peat, Nigel, Peces-Barba Castano, Laura, Caballero, Ana Perez, Perez-Lloret, Jimena, Perrault, Magali S., Perrin, Abigail, Poh, Roy, Poirier, Enzo Z., Polke, James M., Pollitt, Marc, Prieto-Godino, Lucia, Proust, Alize, Puvirajasinghe, Clinda, Queval, Christophe, Ramachandran, Vijaya, Ramaprasad, Abhinay, Ratcliffe, Peter, Reed, Laura, Reis e Sousa, Caetano, Richardson, Kayleigh, Ridewood, Sophie, Roberts, Fiona, Roberts, Rowenna, Rodgers, Angela, Romero Clavijo, Pablo, Rosa, Annachiara, Rossi, Alice, Roustan, Chloe, Rowan, Andrew, Sahai, Erik, Sait, Aaron, Sala, Katarzyna, Sanchez, Emilie, Sanderson, Theo, Santucci, Pierre, Sardar, Fatima, Sateriale, Adam, Saunders, Jill A., Sawyer, Chelsea, Schlott, Anja, Schweighoffer, Edina, Segura-Bayona, Sandra, Shah Punatar, Rajvee, Shahmanesh, Maryam, Shaw, Joe, Silva Dos Santos, Mariana, Silvestre, Margaux, Singer, Matthew, Snell, Daniel M., Song, Ok-Ryul, Spyer, Moira J., Steel, Louisa, Strange, Amy, Sullivan, Adrienne E., Tan, Michele S.Y., Tautz-Davis, Zoe H., Taylor, Effie, Taylor, Gunes, Taylor, Harriet B., Taylor-Beadling, Alison, Teixeira Subtil, Fernanda, Terré Torras, Berta, Toolan-Kerr, Patrick, Torelli, Francesca, Toteva, Tea, Treeck, Moritz, Trojer, Hadija, Tsai, Ming-Han C., Turner, James M.A., Turner, Melanie, Ule, Jernej, Ulferts, Rachel, Vanloo, Sharon P., Veeriah, Selvaraju, Venkatesan, Subramanian, Vousden, Karen, Wack, Andreas, Walder, Claire, Walker, Philip A., Wang, Yiran, Ward, Sophia, Wenman, Catharina, Williams, Luke, Williams, Matthew J., Keong Wong, Wai, Wright, Joshua, Wu, Mary, Wynne, Lauren, Xiang, Zheng, Yap, Melvyn, Zagalak, Julian A., Zecchin, Davide, Zillwood, Rachel, Carthiyaniamma, Santhakumari, DeTisi, Jane, Dick, Julie, Hill, Andrea, Kipper, Karin, Kullar, Birinder, Norris, Sarah, Rugg-Gunn, Fergus, Salvatierra, Rebecca, Shaya, Gabriel, Sloan, Astrid, Singh, Priyanka, Varley, James, Whatley, Ben, Balestrini, Simona, Koepp, Matthias J., Gandhi, Sonia, Rickman, Hannah M., Shin, Gee Yen, Houlihan, Catherine F., Anders-Cannon, Jonny, Silvennoinen, Katri, Xiao, Fenglai, Zagaglia, Sara, Hudgell, Kirsty, Ziomek, Mariusz, Haimes, Paul, Sampson, Adam, Parker, Annie, Helen Cross, J., Pardington, Rosemarie, Nastouli, Eleni, Swanton, Charles, Sander, Josemir W., and Sisodiya, Sanjay M.

Published
2021
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6. Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Author

Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, and Davison, James E.

Published
2017
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8. Becoming a Virtuosa : Advice from Vienna, 1769.

Author

Beesley, Clare

Subjects
MUSICIANS
Abstract

First-hand accounts explaining how a young British virtuosa went about establishing an international career in the later eighteenth century are scant. However, a previously unstudied handwritten page contained within the Rackett Family of Spettisbury Archive at the Dorset History Centre provides new insights into this underexplored area. In this article, I examine an anonymous 1769 document entitled 'a Vienne' from which the guiding voices of eminent musicians at the Vienna court, including Johann Adolf Hasse, Faustina Bordoni, Marianna Martines and their circle, emerge. I argue that this item is in fact an aide-mémoire memorializing intimate glimpses of private conversations, career-shaping advice and impressions that helped mould its author into a virtuosa. Further, by means of palaeographical and biographical evidence I identify the author as the young British glass-armonica player Marianne Davies and assert that her recollections, preserved in this hitherto overlooked piece of ephemera, reconstruct how the educational process of becoming a virtuosa took place. [ABSTRACT FROM AUTHOR]

Published
2023
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10. Contributors

Author

Abayomi, Julie, Acosta, Luisa, Allotey, Janette, Aras-Payne, Andrea, Bailey, Elizabeth, Barber, Debbie, Bartholomew, Cecelia Marcia, Bassett, Sam, Beesley, Clare, Bothamley, Judy, Boyle, Maureen, Bradshaw, Gwendolen, Brodrick, Alison, Brown, Angela, Burden, Barbara, Burnett, Alicia, Byrom, Sheena, Byrom, Anna, Church, Sarah, Coates, Terri, Collinge, Samantha, Crowther, Susan, Denton, Jane, Divall, Bernie, Dornan, Lesley, Dunkley-Bent, Jacqueline, Entwistle, Francesca, Feeley, Claire, Gaudion, Anna, Godfrey-Isaacs, Laura, Gould, Dinah, Griffith, Richard, Gutteridge, Kathryn, Hall, Jenny, Harmer, Clea, Harris, Tina, Hemsley, Chris, Hettle, Simon, Homeyard, Claire Elizabeth, Hurst, Jonathan, Hutcherson, Amanda, Johnson, Gail, Jomeen, Julie, Jones, Lyn, Jones, Tracey, Jordan, Sue, Kemp RM, Joy, Khazaezadeh, Nina, Kirwan, Donna Marie, Lindsay, Carolyn F., Lindsay, Pat, Lyne, Michelle, Macdonald, Sue, Macfarlane, Alison, Maclean, Gaynor D., Hollins Martin, Caroline J., Meinel, Alison, Michaelides, Stephanie, Nabb, Mary Mc, Moyo, Nester T., O’Connell, Maeve Anne, Papadopoulos, Irena, Perry, Vivien, Petty, Julia, Pezaro, Sally, Rose, Lindsey, Rowland, Gloria, Sheridan, Mary, Sinclair, Marlene, Sion, Gemma, Steen, Mary, Tiran, Denise, Uddin, Zeenath, Wallace, Verena, Waller, Nimisha, Ward, Jenny, Watson, Kylie, Willetts, Amanda, Wilson, Angie, and Zarasvand, Sara

Published
2024
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12. Scalable and robust SARS-CoV-2 testing in an academic center

Author

Aitken, Jim, Ambrose, Karen, Barrell, Sam, Beale, Rupert, Bineva-Todd, Ganka, Biswas, Dhruva, Byrne, Richard, Caidan, Simon, Cherepanov, Peter, Churchward, Laura, Clark, Graham, Crawford, Margaret, Cubitt, Laura, Dearing, Vicky, Earl, Christopher, Edwards, Amelia, Ekin, Chris, Fidanis, Efthymios, Gaiba, Alessandra, Gamblin, Steve, Gandhi, Sonia, Goldman, Jacki, Goldstone, Robert, Grant, Paul R., Greco, Maria, Heaney, Judith, Hindmarsh, Steve, Houlihan, Catherine F., Howell, Michael, Hubank, Michael, Hughes, Deborah, Instrell, Rachael, Jackson, Deborah, Jamal-Hanjani, Mariam, Jiang, Ming, Johnson, Mark, Jones, Leigh, Kanu, Nnennaya, Kassiotis, George, Kirk, Stuart, Kjaer, Svend, Levett, Andrew, Levett, Lisa, Levi, Marcel, Lu, Wei-Ting, MacRae, James I., Matthews, John, McCoy, Laura E., Moore, Catherine, Moore, David, Nastouli, Eleni, Nicod, Jerome, Nightingale, Luke, Olsen, Jessica, O’Reilly, Nicola, Pabari, Amar, Papayannopoulos, Venizelos, Patel, Namita, Peat, Nigel, Pollitt, Marc, Ratcliffe, Peter, Reis e Sousa, Caetano, Rosa, Annachiara, Rosenthal, Rachel, Roustan, Chloe, Rowan, Andrew, Shin, Gee Yen, Snell, Daniel M., Song, Ok-Ryul, Spyer, Moira J., Strange, Amy, Swanton, Charles, Turner, James M. A., Turner, Melanie, Wack, Andreas, Walker, Philip A., Ward, Sophia, Wong, Wai Keong, Wright, Joshua, Wu, Mary, Allen, Zoe, Ambler, Rachel, Ashton, Emma, Avola, Alida, Balakrishnan, Samutheswari, Barns-Jenkins, Caitlin, Barr, Genevieve, Basu, Souradeep, Beesley, Clare, Bhardwaj, Nisha, Bibi, Shahnaz, Blackman, Michael J., Bonnet, Dominique, Bowker, Faye, Broncel, Malgorzata, Brooks, Claire, Buck, Michael D., Buckton, Andrew, Budd, Timothy, Burrell, Alana, Busby, Louise, Bussi, Claudio, Butterworth, Simon, Byrne, Fiona, Campbell, Joanna, Canton, Johnathan, Cardoso, Ana, Carter, Nick, Carvalho, Luiz, Carzaniga, Raffaella, Chandler, Natalie, Chen, Qu, Clayton, Bobbi, Gigli, Clementina Cobolli, Collins, Zena, Cottrell, Sally, Cullup, Tom, Davies, Heledd, Davis, Patrick, Davison, Dara, Debaisieux, Solene, Diaz-Romero, Monica, Dibbs, Alison, Diring, Jessica, Driscoll, Paul C., D’Avola, Annalisa, Evangelopoulos, Dimitrios, Faraway, Rupert, Fearns, Antony, Ferron, Aaron, Dan Fitz, Fleming, James, Frederico, Bruno, Gait, Anthony, Gaul, Liam, Golding, Helen M., Gomez Dominguez, Belen, Gong, Hui, Grobler, Mariana, Guedan, Anabel, Gutierrez, Maximiliano G., Hackett, Fiona, Hall, Ross, Halldorsson, Steinar, Harris, Suzanne, Hashim, Sugera, Healy, Lyn, Herbst, Susanne, Hewitt, Graeme, Higgins, Theresa, Hirani, Rajnika, Hope, Joshua, Horton, Elizabeth, Hoskins, Beth, Howitt, Louise, Hoyle, Jacqueline, Htun, Mint R., Huerga Encabo, Hector, Hughes, Jane, Huseynova, Almaz, Hwang, Ming-Shih, Jenkins, Lucy, Kiely, Louise, King Spert Teixeira, Anastacio, Knuepfer, Ellen, Komarov, Nikita, Kotzampaltiris, Paul, Kousis, Konstantinos, Krylova, Tammy, Kucharska, Ania, Labrum, Robyn, Lambe, Catherine, Lappin, Michelle, Lee, Stacey-Ann, Liu, Hon Wing, Loughlin, Sam, Madoo, Akshay, Marczak, Julie A., Martensson, Mimmi, Martinez, Thomas, Marzook, Bishara, Matz, Joachim M., McCall, Samuel, McKay, Fiona, McNamara, Edel C., Minutti, Carlos M., Mistry, Gita, Molina-Arcas, Miriam, Montaner, Beatriz, Montgomery, Kylie, Moraiti, Anastasia, Moreira-Teixeira, Lucia, Mukherjee, Joyita, Naceur-Lombardelli, Cristina, Nelson, Aileen, Nofal, Stephanie, Nurse, Paul, Nutan, Savita, Oedekoven, Caroline, O’Garra, Anne, O’Leary, Jean D., O’Neill, Olga, Suarez, Paula Ordonez, Osborne, Neil, Pajak, Aleksandra, Patel, Yogen, Paun, Oana, Peces-Barba Castano, Laura, Perez Caballero, Ana, Perez-Lloret, Jimena, Perrault, Magali S., Perrin, Abigail, Poh, Roy, Poirier, Enzo Z., Polke, James M., Prieto-Godino, Lucia, Proust, Alize, Puvirajasinghe, Clinda, Queval, Christophe, Ramachandran, Vijaya, Ramaprasad, Abhinay, Reed, Laura, Richardson, Kayleigh, Ridewood, Sophie, Roberts, Fiona, Roberts, Rowenna, Rodgers, Angela, Clavijo, Pablo Romero, Rossi, Alice, Sahai, Erik, Sait, Aaron, Sala, Katarzyna, Sanderson, Theo, Santucci, Pierre, Sardar, Fatima, Sateriale, Adam, Saunders, Jill A., Sawyer, Chelsea, Schlott, Anja, Schweighoffer, Edina, Segura-Bayona, Sandra, Shah Punatar, Rajvee, Shaw, Joe, Silva Dos Santos, Mariana, Silvestre, Margaux, Singer, Matthew, Steel, Louisa, Sullivan, Adrienne E., Tan, Michele S. Y., Tautz-Davis, Zoe H., Taylor, Effie, Taylor, Gunes, Taylor, Harriet B., Taylor-Beadling, Alison, Teixeira Subtil, Fernanda, Terré Torras, Berta, Toolan-Kerr, Patrick, Torelli, Francesca, Toteva, Tea, Treeck, Moritz, Trojer, Hadija, Tsai, Ming-Han C., Ule, Jernej, Ulferts, Rachel, Vanloo, Sharon P., Veeriah, Selvaraju, Venkatesan, Subramanian, Vousden, Karen, Walder, Claire, Wang, Yiran, Wenman, Catharina, Williams, Luke, Williams, Matthew J., Wynne, Lauren, Xiang, Zheng, Yap, Melvyn, Zagalak, Julian A., Zecchin, Davide, and Zillwood, Rachel

Subjects
2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Crick COVID-19 Consortium, Biomedical Engineering, Bioengineering, CORONAVIRUS, medicine.disease_cause, Applied Microbiology and Biotechnology, medicine, Medical Laboratory Science, Humans, Royaume uni, Coronavirus, Reino unido, Science & Technology, business.industry, Clinical Laboratory Techniques, Reverse Transcriptase Polymerase Chain Reaction, Academies and Institutes, Virology, United Kingdom, Europe, Biotechnology & Applied Microbiology, Molecular Medicine, business, Coronavirus Infections, Life Sciences & Biomedicine, Biotechnology, PNEUMONIA OUTBREAK
Published
2020

15. Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Author

Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J.H.M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, and Pshezhetsky, Alexey V.

Published
2006
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16. Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy

Author

Balestrini, Simona, primary, Koepp, Matthias J., additional, Gandhi, Sonia, additional, Rickman, Hannah M., additional, Shin, Gee Yen, additional, Houlihan, Catherine F., additional, Anders-Cannon, Jonny, additional, Silvennoinen, Katri, additional, Xiao, Fenglai, additional, Zagaglia, Sara, additional, Hudgell, Kirsty, additional, Ziomek, Mariusz, additional, Haimes, Paul, additional, Sampson, Adam, additional, Parker, Annie, additional, Helen Cross, J., additional, Pardington, Rosemarie, additional, Nastouli, Eleni, additional, Swanton, Charles, additional, Sander, Josemir W., additional, Sisodiya, Sanjay M., additional, Aitken, Jim, additional, Allen, Zoe, additional, Ambler, Rachel, additional, Ambrose, Karen, additional, Ashton, Emma, additional, Avola, Alida, additional, Balakrishnan, Samutheswari, additional, Barns-Jenkins, Caitlin, additional, Barr, Genevieve, additional, Barrell, Sam, additional, Basu, Souradeep, additional, Beale, Rupert, additional, Beesley, Clare, additional, Bhardwaj, Nisha, additional, Bibi, Shahnaz, additional, Bineva-Todd, Ganka, additional, Biswas, Dhruva, additional, Blackman, Michael J., additional, Bonnet, Dominique, additional, Bowker, Faye, additional, Broncel, Malgorzata, additional, Brooks, Claire, additional, Buck, Michael D., additional, Buckton, Andrew, additional, Budd, Timothy, additional, Burrell, Alana, additional, Busby, Louise, additional, Bussi, Claudio, additional, Butterworth, Simon, additional, Byott, Matthew, additional, Byrne, Fiona, additional, Byrne, Richard, additional, Caidan, Simon, additional, Campbell, Joanna, additional, Canton, Johnathan, additional, Cardoso, Ana, additional, Carter, Nick, additional, Carvalho, Luiz, additional, Carzaniga, Raffaella, additional, Chandler, Natalie, additional, Chen, Qu, additional, Cherepanov, Peter, additional, Churchward, Laura, additional, Clark, Graham, additional, Clayton, Bobbi, additional, Cobolli Gigli, Clementina, additional, Collins, Zena, additional, Cottrell, Sally, additional, Crawford, Margaret, additional, Cubitt, Laura, additional, Cullup, Tom, additional, Davies, Heledd, additional, Davis, Patrick, additional, Davison, Dara, additional, Dearing, Vicky, additional, Debaisieux, Solene, additional, Diaz-Romero, Monica, additional, Dibbs, Alison, additional, Diring, Jessica, additional, Driscoll, Paul C., additional, D'Avola, Annalisa, additional, Earl, Christopher, additional, Edwards, Amelia, additional, Ekin, Chris, additional, Evangelopoulos, Dimitrios, additional, Faraway, Rupert, additional, Fearns, Antony, additional, Ferron, Aaron, additional, Fidanis, Efthymios, additional, Fitz, Dan, additional, Fleming, James, additional, Frampton, Daniel, additional, Frederico, Bruno, additional, Gaiba, Alessandra, additional, Gait, Anthony, additional, Gamblin, Steve, additional, Gärtner, Kathleen, additional, Gaul, Liam, additional, Golding, Helen M., additional, Goldman, Jacki, additional, Goldstone, Robert, additional, Gomez Dominguez, Belen, additional, Gong, Hui, additional, Grant, Paul R., additional, Greco, Maria, additional, Grobler, Mariana, additional, Guedan, Anabel, additional, Gutierrez, Maximiliano G., additional, Hackett, Fiona, additional, Hall, Ross, additional, Halldorsson, Steinar, additional, Harris, Suzanne, additional, Hashim, Sugera, additional, Hatipoglu, Emine, additional, Healy, Lyn, additional, Heaney, Judith, additional, Herbst, Susanne, additional, Hewitt, Graeme, additional, Higgins, Theresa, additional, Hindmarsh, Steve, additional, Hirani, Rajnika, additional, Hope, Joshua, additional, Horton, Elizabeth, additional, Hoskins, Beth, additional, Howell, Michael, additional, Howitt, Louise, additional, Hoyle, Jacqueline, additional, Htun, Mint R., additional, Hubank, Michael, additional, Huerga Encabo, Hector, additional, Hughes, Deborah, additional, Hughes, Jane, additional, Huseynova, Almaz, additional, Hwang, Ming-Shih, additional, Instrell, Rachael, additional, Jackson, Deborah, additional, Jamal-Hanjani, Mariam, additional, Jenkins, Lucy, additional, Jiang, Ming, additional, Johnson, Mark, additional, Jones, Leigh, additional, Kanu, Nnennaya, additional, Kassiotis, George, additional, Kelly, Gavin, additional, Kiely, Louise, additional, Teixeira, Anastacio King Spert, additional, Kirk, Stuart, additional, Kjaer, Svend, additional, Knuepfer, Ellen, additional, Komarov, Nikita, additional, Kotzampaltiris, Paul, additional, Kousis, Konstantinos, additional, Krylova, Tammy, additional, Kucharska, Ania, additional, Labrum, Robyn, additional, Lambe, Catherine, additional, Lappin, Michelle, additional, Lee, Stacey-Ann, additional, Levett, Andrew, additional, Levett, Lisa, additional, Levi, Marcel, additional, Liu, Hon Wing, additional, Loughlin, Sam, additional, Lu, Wei-Ting, additional, MacRae, James I., additional, Madoo, Akshay, additional, Marczak, Julie A., additional, Martensson, Mimmi, additional, Martinez, Thomas, additional, Marzook, Bishara, additional, Matthews, John, additional, Matz, Joachim M., additional, McCall, Samuel, additional, McCoy, Laura E., additional, McKay, Fiona, additional, McNamara, Edel C., additional, Minutti, Carlos M., additional, Mistry, Gita, additional, Molina-Arcas, Miriam, additional, Montaner, Beatriz, additional, Montgomery, Kylie, additional, Moore, Catherine, additional, Moore, David, additional, Moraiti, Anastasia, additional, Moreira-Teixeira, Lucia, additional, Mukherjee, Joyita, additional, Naceur-Lombardelli, Cristina, additional, Nelson, Aileen, additional, Nicod, Jerome, additional, Nightingale, Luke, additional, Nofal, Stephanie, additional, Nurse, Paul, additional, Nutan, Savita, additional, Oedekoven, Caroline, additional, O'Garra, Anne, additional, O'Leary, Jean D., additional, Olsen, Jessica, additional, O'Neill, Olga, additional, O'Reilly, Nicola, additional, Suarez, Paula Ordonez, additional, Osborne, Neil, additional, Pabari, Amar, additional, Pajak, Aleksandra, additional, Papayannopoulos, Venizelos, additional, Paraskevopoulou, Stavroula M, additional, Patel, Namita, additional, Patel, Yogen, additional, Paun, Oana, additional, Peat, Nigel, additional, Peces-Barba Castano, Laura, additional, Caballero, Ana Perez, additional, Perez-Lloret, Jimena, additional, Perrault, Magali S., additional, Perrin, Abigail, additional, Poh, Roy, additional, Poirier, Enzo Z., additional, Polke, James M., additional, Pollitt, Marc, additional, Prieto-Godino, Lucia, additional, Proust, Alize, additional, Puvirajasinghe, Clinda, additional, Queval, Christophe, additional, Ramachandran, Vijaya, additional, Ramaprasad, Abhinay, additional, Ratcliffe, Peter, additional, Reed, Laura, additional, Reis e Sousa, Caetano, additional, Richardson, Kayleigh, additional, Ridewood, Sophie, additional, Roberts, Fiona, additional, Roberts, Rowenna, additional, Rodgers, Angela, additional, Romero Clavijo, Pablo, additional, Rosa, Annachiara, additional, Rossi, Alice, additional, Roustan, Chloe, additional, Rowan, Andrew, additional, Sahai, Erik, additional, Sait, Aaron, additional, Sala, Katarzyna, additional, Sanchez, Emilie, additional, Sanderson, Theo, additional, Santucci, Pierre, additional, Sardar, Fatima, additional, Sateriale, Adam, additional, Saunders, Jill A., additional, Sawyer, Chelsea, additional, Schlott, Anja, additional, Schweighoffer, Edina, additional, Segura-Bayona, Sandra, additional, Shah Punatar, Rajvee, additional, Shahmanesh, Maryam, additional, Shaw, Joe, additional, Silva Dos Santos, Mariana, additional, Silvestre, Margaux, additional, Singer, Matthew, additional, Snell, Daniel M., additional, Song, Ok-Ryul, additional, Spyer, Moira J., additional, Steel, Louisa, additional, Strange, Amy, additional, Sullivan, Adrienne E., additional, Tan, Michele S.Y., additional, Tautz-Davis, Zoe H., additional, Taylor, Effie, additional, Taylor, Gunes, additional, Taylor, Harriet B., additional, Taylor-Beadling, Alison, additional, Teixeira Subtil, Fernanda, additional, Terré Torras, Berta, additional, Toolan-Kerr, Patrick, additional, Torelli, Francesca, additional, Toteva, Tea, additional, Treeck, Moritz, additional, Trojer, Hadija, additional, Tsai, Ming-Han C., additional, Turner, James M.A., additional, Turner, Melanie, additional, Ule, Jernej, additional, Ulferts, Rachel, additional, Vanloo, Sharon P., additional, Veeriah, Selvaraju, additional, Venkatesan, Subramanian, additional, Vousden, Karen, additional, Wack, Andreas, additional, Walder, Claire, additional, Walker, Philip A., additional, Wang, Yiran, additional, Ward, Sophia, additional, Wenman, Catharina, additional, Williams, Luke, additional, Williams, Matthew J., additional, Keong Wong, Wai, additional, Wright, Joshua, additional, Wu, Mary, additional, Wynne, Lauren, additional, Xiang, Zheng, additional, Yap, Melvyn, additional, Zagalak, Julian A., additional, Zecchin, Davide, additional, Zillwood, Rachel, additional, Carthiyaniamma, Santhakumari, additional, DeTisi, Jane, additional, Dick, Julie, additional, Hill, Andrea, additional, Kipper, Karin, additional, Kullar, Birinder, additional, Norris, Sarah, additional, Rugg-Gunn, Fergus, additional, Salvatierra, Rebecca, additional, Shaya, Gabriel, additional, Sloan, Astrid, additional, Singh, Priyanka, additional, Varley, James, additional, and Whatley, Ben, additional

Published
2021
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17. Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers

Author

Houlihan, Catherine F, primary, Vora, Nina, additional, Byrne, Thomas, additional, Lewer, Dan, additional, Kelly, Gavin, additional, Heaney, Judith, additional, Gandhi, Sonia, additional, Spyer, Moira J, additional, Beale, Rupert, additional, Cherepanov, Peter, additional, Moore, David, additional, Gilson, Richard, additional, Gamblin, Steve, additional, Kassiotis, George, additional, McCoy, Laura E, additional, Swanton, Charles, additional, Hayward, Andrew, additional, Nastouli, Eleni, additional, Aitken, Jim, additional, Allen, Zoe, additional, Ambler, Rachel, additional, Ambrose, Karen, additional, Ashton, Emma, additional, Avola, Alida, additional, Balakrishnan, Samutheswari, additional, Barns-Jenkins, Caitlin, additional, Barr, Genevieve, additional, Barrell, Sam, additional, Basu, Souradeep, additional, Beesley, Clare, additional, Bhardwaj, Nisha, additional, Bibi, Shahnaz, additional, Bineva-Todd, Ganka, additional, Biswas, Dhruva, additional, Blackman, Michael J, additional, Bonnet, Dominique, additional, Bowker, Faye, additional, Broncel, Malgorzata, additional, Brooks, Claire, additional, Buck, Michael D, additional, Buckton, Andrew, additional, Budd, Timothy, additional, Burrell, Alana, additional, Busby, Louise, additional, Bussi, Claudio, additional, Butterworth, Simon, additional, Byrne, Fiona, additional, Byrne, Richard, additional, Caidan, Simon, additional, Campbell, Joanna, additional, Canton, Johnathan, additional, Cardoso, Ana, additional, Carter, Nick, additional, Carvalho, Luiz, additional, Carzaniga, Raffaella, additional, Chandler, Natalie, additional, Chen, Qu, additional, Churchward, Laura, additional, Clark, Graham, additional, Clayton, Bobbi, additional, Cobolli Gigli, Clementina, additional, Collins, Zena, additional, Cottrell, Sally, additional, Crawford, Margaret, additional, Cubitt, Laura, additional, Cullup, Tom, additional, Davies, Heledd, additional, Davis, Patrick, additional, Davison, Dara, additional, D'Avola, Annalisa, additional, Dearing, Vicky, additional, Debaisieux, Solene, additional, Diaz-Romero, Monica, additional, Dibbs, Alison, additional, Diring, Jessica, additional, Driscoll, Paul C, additional, Earl, Christopher, additional, Edwards, Amelia, additional, Ekin, Chris, additional, Evangelopoulos, Dimitrios, additional, Faraway, Rupert, additional, Fearns, Antony, additional, Ferron, Aaron, additional, Fidanis, Efthymios, additional, Fitz, Dan, additional, Fleming, James, additional, Frederico, Bruno, additional, Gaiba, Alessandra, additional, Gait, Anthony, additional, Gaul, Liam, additional, Golding, Helen M, additional, Goldman, Jacki, additional, Goldstone, Robert, additional, Gomez Dominguez, Belen, additional, Gong, Hui, additional, Grant, Paul R, additional, Greco, Maria, additional, Grobler, Mariana, additional, Guedan, Anabel, additional, Gutierrez, Maximiliano G, additional, Hackett, Fiona, additional, Hall, Ross, additional, Halldorsson, Steinar, additional, Harris, Suzanne, additional, Hashim, Sugera, additional, Healy, Lyn, additional, Herbst, Susanne, additional, Hewitt, Graeme, additional, Higgins, Theresa, additional, Hindmarsh, Steve, additional, Hirani, Rajnika, additional, Hope, Joshua, additional, Horton, Elizabeth, additional, Hoskins, Beth, additional, Houlihan, Catherine F, additional, Howell, Michael, additional, Howitt, Louise, additional, Hoyle, Jacqueline, additional, Htun, Mint R, additional, Hubank, Michael, additional, Huerga Encabo, Hector, additional, Hughes, Deborah, additional, Hughes, Jane, additional, Huseynova, Almaz, additional, Hwang, Ming-Shih, additional, Instrell, Rachael, additional, Jackson, Deborah, additional, Jamal-Hanjani, Mariam, additional, Jenkins, Lucy, additional, Jiang, Ming, additional, Johnson, Mark, additional, Jones, Leigh, additional, Kanu, Nnennaya, additional, Kiely, Louise, additional, King Spert Teixeira, Anastacio, additional, Kirk, Stuart, additional, Kjaer, Svend, additional, Knuepfer, Ellen, additional, Komarov, Nikita, additional, Kotzampaltiris, Paul, additional, Kousis, Konstantinos, additional, Krylova, Tammy, additional, Kucharska, Ania, additional, Labrum, Robyn, additional, Lambe, Catherine, additional, Lappin, Michelle, additional, Lee, Stacey-Ann, additional, Levett, Andrew, additional, Levett, Lisa, additional, Levi, Marcel, additional, Liu, Hon-Wing, additional, Loughlin, Sam, additional, Lu, Wei-Ting, additional, MacRae, James I, additional, Madoo, Akshay, additional, Marczak, Julie A, additional, Martensson, Mimmi, additional, Martinez, Thomas, additional, Marzook, Bishara, additional, Matthews, John, additional, Matz, Joachim M, additional, McCall, Samuel, additional, McKay, Fiona, additional, McNamara, Edel C, additional, Minutti, Carlos M, additional, Mistry, Gita, additional, Molina-Arcas, Miriam, additional, Montaner, Beatriz, additional, Montgomery, Kylie, additional, Moore, Catherine, additional, Moraiti, Anastasia, additional, Moreira-Teixeira, Lucia, additional, Mukherjee, Joyita, additional, Naceur-Lombardelli, Cristina, additional, Nelson, Aileen, additional, Nicod, Jerome, additional, Nightingale, Luke, additional, Nofal, Stephanie, additional, Nurse, Paul, additional, Nutan, Savita, additional, Oedekoven, Caroline, additional, O'Garra, Anne, additional, O'Leary, Jean D, additional, Olsen, Jessica, additional, O'Neill, Olga, additional, Ordonez Suarez, Paula, additional, O'Reilly, Nicola, additional, Osborne, Neil, additional, Pabari, Amar, additional, Pajak, Aleksandra, additional, Papayannopoulos, Venizelos, additional, Patel, Namita, additional, Patel, Yogen, additional, Paun, Oana, additional, Peat, Nigel, additional, Peces-Barba Castano, Laura, additional, Perez Caballero, Ana, additional, Perez-Lloret, Jimena, additional, Perrault, Magali S, additional, Perrin, Abigail, additional, Poh, Roy, additional, Poirier, Enzo Z, additional, Polke, James M, additional, Pollitt, Marc, additional, Prieto-Godino, Lucia, additional, Proust, Alize, additional, Shah Punatar, Rajvee, additional, Puvirajasinghe, Clinda, additional, Queval, Christophe, additional, Ramachandran, Vijaya, additional, Ramaprasad, Abhinay, additional, Ratcliffe, Peter, additional, Reed, Laura, additional, Reis e Sousa, Caetano, additional, Richardson, Kayleigh, additional, Ridewood, Sophie, additional, Roberts, Rowenna, additional, Rodgers, Angela, additional, Romero Clavijo, Pablo, additional, Rosa, Annachiara, additional, Rossi, Alice, additional, Roustan, Chloe, additional, Rowan, Andrew, additional, Sahai, Erik, additional, Sait, Aaron, additional, Sala, Katarzyna, additional, Sanderson, Theo, additional, Santucci, Pierre, additional, Sardar, Fatima, additional, Sateriale, Adam, additional, Saunders, Jill A, additional, Sawyer, Chelsea, additional, Schlott, Anja, additional, Schweighoffer, Edina, additional, Segura-Bayona, Sandra, additional, Shaw, Joe, additional, Shin, Gee Yen, additional, Silva Dos Santos, Mariana, additional, Silvestre, Margaux, additional, Singer, Matthew, additional, Snell, Daniel M, additional, Song, Ok-Ryul, additional, Steel, Louisa, additional, Strange, Amy, additional, Sullivan, Adrienne E, additional, Tan, Michele SY, additional, Tautz-Davis, Zoe H, additional, Taylor, Effie, additional, Taylor, Gunes, additional, Taylor, Harriet B, additional, Taylor-Beadling, Alison, additional, Teixeira Subtil, Fernanda, additional, Terré Torras, Berta, additional, Toolan-Kerr, Patrick, additional, Torelli, Francesca, additional, Toteva, Tea, additional, Treeck, Moritz, additional, Trojer, Hadija, additional, Tsai, Ming-Han C, additional, Turner, James MA, additional, Turner, Melanie, additional, Ule, Jernej, additional, Ulferts, Rachel, additional, Vanloo, Sharon P, additional, Veeriah, Selvaraju, additional, Venkatesan, Subramanian, additional, Vousden, Karen, additional, Wack, Andreas, additional, Walder, Claire, additional, Walker, Philip A, additional, Wang, Yiran, additional, Ward, Sophia, additional, Wenman, Catharina, additional, Wiliams, Luke, additional, Williams, Matthew J, additional, Wong, Wai Keong, additional, Wright, Joshua, additional, Wu, Mary, additional, Wynne, Lauren, additional, Xiang, Zheng, additional, Yap, Melvyn, additional, Zagalak, Julian A, additional, Zecchin, Davide, additional, Zillwood, Rachel, additional, Matthews, Rebecca, additional, Severn, Abigail, additional, Adam, Sajida, additional, Enfield, Louise, additional, McBride, Angela, additional, Gärtner, Kathleen, additional, Edwards, Sarah, additional, Lorencatto, Fabiana, additional, Michie, Susan, additional, Manley, Ed, additional, Shahmanesh, Maryam, additional, Lukha, Hinal, additional, Prymas, Paulina, additional, McBain, Hazel, additional, Shortman, Robert, additional, Wood, Leigh, additional, Davies, Claudia, additional, Williams, Bethany, additional, Ng, Kevin W, additional, Cornish, Georgina H, additional, Faulkner, Nikhil, additional, Riddell, Andrew, additional, Hobson, Philip, additional, Agua-Doce, Ana, additional, Bartolovic, Kerol, additional, Russell, Emma, additional, Carr, Lotte, additional, Sanchez, Emilie, additional, Frampton, Daniel, additional, Byott, Matthew, additional, Paraskevopoulou, Stavroula M, additional, Crayton, Elise, additional, Meyer, Carly, additional, Gkouleli, Triantafylia, additional, Stoltenberg, Andrea, additional, Ranieri, Veronica, additional, Byrne, Tom, additional, Roberts, Fiona, additional, and Hatipoglu, Emine, additional

Published
2020
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21. CLN8 disease caused by large genomic deletions

Author

Beesley, Clare, Guerreiro, Rita J., Bras, Jose T., Williams, Ruth E., Taratuto, Ana Lia, Eltze, Christin, and Mole, Sara E.

Subjects
Clinical Report, Batten, NCL, neuronal ceroid lipofuscinosis, CLN8
Abstract

Background The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. Method The DNA of patients was analyzed in a diagnostic setting. Results We present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele – their deletions unmasked a mutation in CLN8 on the other chromosome. Conclusion Microarray analysis is recommended in any patient suspected of NCL who is apparently homozygous for a mutation that is not present in one of the parents or when the family has no known consanguinity.

Published
2016

26. Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers

Author

Aitken, Jim, Allen, Zoe, Ambler, Rachel, Ambrose, Karen, Ashton, Emma, Avola, Alida, Balakrishnan, Samutheswari, Barns-Jenkins, Caitlin, Barr, Genevieve, Barrell, Sam, Basu, Souradeep, Beale, Rupert, Beesley, Clare, Bhardwaj, Nisha, Bibi, Shahnaz, Bineva-Todd, Ganka, Biswas, Dhruva, Blackman, Michael J, Bonnet, Dominique, Bowker, Faye, Broncel, Malgorzata, Brooks, Claire, Buck, Michael D, Buckton, Andrew, Budd, Timothy, Burrell, Alana, Busby, Louise, Bussi, Claudio, Butterworth, Simon, Byrne, Fiona, Byrne, Richard, Caidan, Simon, Campbell, Joanna, Canton, Johnathan, Cardoso, Ana, Carter, Nick, Carvalho, Luiz, Carzaniga, Raffaella, Chandler, Natalie, Chen, Qu, Cherepanov, Peter, Churchward, Laura, Clark, Graham, Clayton, Bobbi, Cobolli Gigli, Clementina, Collins, Zena, Cottrell, Sally, Crawford, Margaret, Cubitt, Laura, Cullup, Tom, Davies, Heledd, Davis, Patrick, Davison, Dara, D'Avola, Annalisa, Dearing, Vicky, Debaisieux, Solene, Diaz-Romero, Monica, Dibbs, Alison, Diring, Jessica, Driscoll, Paul C, Earl, Christopher, Edwards, Amelia, Ekin, Chris, Evangelopoulos, Dimitrios, Faraway, Rupert, Fearns, Antony, Ferron, Aaron, Fidanis, Efthymios, Fitz, Dan, Fleming, James, Frederico, Bruno, Gaiba, Alessandra, Gait, Anthony, Gamblin, Steve, Gandhi, Sonia, Gaul, Liam, Golding, Helen M, Goldman, Jacki, Goldstone, Robert, Gomez Dominguez, Belen, Gong, Hui, Grant, Paul R, Greco, Maria, Grobler, Mariana, Guedan, Anabel, Gutierrez, Maximiliano G, Hackett, Fiona, Hall, Ross, Halldorsson, Steinar, Harris, Suzanne, Hashim, Sugera, Healy, Lyn, Heaney, Judith, Herbst, Susanne, Hewitt, Graeme, Higgins, Theresa, Hindmarsh, Steve, Hirani, Rajnika, Hope, Joshua, Horton, Elizabeth, Hoskins, Beth, Houlihan, Catherine F, Howell, Michael, Howitt, Louise, Hoyle, Jacqueline, Htun, Mint R, Hubank, Michael, Huerga Encabo, Hector, Hughes, Deborah, Hughes, Jane, Huseynova, Almaz, Hwang, Ming-Shih, Instrell, Rachael, Jackson, Deborah, Jamal-Hanjani, Mariam, Jenkins, Lucy, Jiang, Ming, Johnson, Mark, Jones, Leigh, Kanu, Nnennaya, Kassiotis, George, Kiely, Louise, King Spert Teixeira, Anastacio, Kirk, Stuart, Kjaer, Svend, Knuepfer, Ellen, Komarov, Nikita, Kotzampaltiris, Paul, Kousis, Konstantinos, Krylova, Tammy, Kucharska, Ania, Labrum, Robyn, Lambe, Catherine, Lappin, Michelle, Lee, Stacey-Ann, Levett, Andrew, Levett, Lisa, Levi, Marcel, Liu, Hon-Wing, Loughlin, Sam, Lu, Wei-Ting, MacRae, James I, Madoo, Akshay, Marczak, Julie A, Martensson, Mimmi, Martinez, Thomas, Marzook, Bishara, Matthews, John, Matz, Joachim M, McCall, Samuel, McCoy, Laura E, McKay, Fiona, McNamara, Edel C, Minutti, Carlos M, Mistry, Gita, Molina-Arcas, Miriam, Montaner, Beatriz, Montgomery, Kylie, Moore, Catherine, Moore, David, Moraiti, Anastasia, Moreira-Teixeira, Lucia, Mukherjee, Joyita, Naceur-Lombardelli, Cristina, Nastouli, Eleni, Nelson, Aileen, Nicod, Jerome, Nightingale, Luke, Nofal, Stephanie, Nurse, Paul, Nutan, Savita, Oedekoven, Caroline, O'Garra, Anne, O'Leary, Jean D, Olsen, Jessica, O'Neill, Olga, Ordonez Suarez, Paula, O'Reilly, Nicola, Osborne, Neil, Pabari, Amar, Pajak, Aleksandra, Papayannopoulos, Venizelos, Patel, Namita, Patel, Yogen, Paun, Oana, Peat, Nigel, Peces-Barba Castano, Laura, Perez Caballero, Ana, Perez-Lloret, Jimena, Perrault, Magali S, Perrin, Abigail, Poh, Roy, Poirier, Enzo Z, Polke, James M, Pollitt, Marc, Prieto-Godino, Lucia, Proust, Alize, Shah Punatar, Rajvee, Puvirajasinghe, Clinda, Queval, Christophe, Ramachandran, Vijaya, Ramaprasad, Abhinay, Ratcliffe, Peter, Reed, Laura, Reis e Sousa, Caetano, Richardson, Kayleigh, Ridewood, Sophie, Roberts, Rowenna, Rodgers, Angela, Romero Clavijo, Pablo, Rosa, Annachiara, Rossi, Alice, Roustan, Chloe, Rowan, Andrew, Sahai, Erik, Sait, Aaron, Sala, Katarzyna, Sanderson, Theo, Santucci, Pierre, Sardar, Fatima, Sateriale, Adam, Saunders, Jill A, Sawyer, Chelsea, Schlott, Anja, Schweighoffer, Edina, Segura-Bayona, Sandra, Shaw, Joe, Shin, Gee Yen, Silva Dos Santos, Mariana, Silvestre, Margaux, Singer, Matthew, Snell, Daniel M, Song, Ok-Ryul, Spyer, Moira J, Steel, Louisa, Strange, Amy, Sullivan, Adrienne E, Swanton, Charles, Tan, Michele SY, Tautz-Davis, Zoe H, Taylor, Effie, Taylor, Gunes, Taylor, Harriet B, Taylor-Beadling, Alison, Teixeira Subtil, Fernanda, Terré Torras, Berta, Toolan-Kerr, Patrick, Torelli, Francesca, Toteva, Tea, Treeck, Moritz, Trojer, Hadija, Tsai, Ming-Han C, Turner, James MA, Turner, Melanie, Ule, Jernej, Ulferts, Rachel, Vanloo, Sharon P, Veeriah, Selvaraju, Venkatesan, Subramanian, Vousden, Karen, Wack, Andreas, Walder, Claire, Walker, Philip A, Wang, Yiran, Ward, Sophia, Wenman, Catharina, Wiliams, Luke, Williams, Matthew J, Wong, Wai Keong, Wright, Joshua, Wu, Mary, Wynne, Lauren, Xiang, Zheng, Yap, Melvyn, Zagalak, Julian A, Zecchin, Davide, Zillwood, Rachel, Matthews, Rebecca, Severn, Abigail, Adam, Sajida, Enfield, Louise, McBride, Angela, Gärtner, Kathleen, Edwards, Sarah, Lorencatto, Fabiana, Michie, Susan, Manley, Ed, Shahmanesh, Maryam, Lukha, Hinal, Prymas, Paulina, McBain, Hazel, Shortman, Robert, Wood, Leigh, Davies, Claudia, Williams, Bethany, Ng, Kevin W, Cornish, Georgina H, Faulkner, Nikhil, Riddell, Andrew, Hobson, Philip, Agua-Doce, Ana, Bartolovic, Kerol, Russell, Emma, Carr, Lotte, Sanchez, Emilie, Frampton, Daniel, Byott, Matthew, Paraskevopoulou, Stavroula M, Crayton, Elise, Meyer, Carly, Vora, Nina, Gkouleli, Triantafylia, Stoltenberg, Andrea, Ranieri, Veronica, Byrne, Tom, Lewer, Dan, Hayward, Andrew, Gilson, Richard, Kelly, Gavin, Roberts, Fiona, Hatipoglu, Emine, and Byrne, Thomas

Published
2020
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28. Abnormal leukocyte galactocerebrosidase activity complicating a diagnosis of hereditary spastic paraplegia 15 (SPG-15)

Author

Davison, James E, primary, Beesley, Clare, additional, Hurst, Jane A, additional, Wigley, Ralph, additional, Anderson, Glenn, additional, Cregeen, David, additional, Green, Elizabeth, additional, Jackson, Marie, additional, Bhate, Sanjay, additional, D'Arco, Felice, additional, Cleary, Maureen A, additional, Heales, Simon R, additional, Harvey, Katie, additional, and Burke, Derek, additional

Published
2017
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29. Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Author

Reid, Emma S., primary, Papandreou, Apostolos, additional, Drury, Suzanne, additional, Boustred, Christopher, additional, Yue, Wyatt W., additional, Wedatilake, Yehani, additional, Beesley, Clare, additional, Jacques, Thomas S., additional, Anderson, Glenn, additional, Abulhoul, Lara, additional, Broomfield, Alex, additional, Cleary, Maureen, additional, Grunewald, Stephanie, additional, Varadkar, Sophia M., additional, Lench, Nick, additional, Rahman, Shamima, additional, Gissen, Paul, additional, Clayton, Peter T., additional, and Mills, Philippa B., additional

Published
2016
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30. The UK experience of enzyme replacement therapy in patients with infantile onset Pompe disease

Author

Joan Fletcher, Ashok Vellodi, Alexander Broomfield, Matthew Fenton, James Davison, Stephanie Grunewald, Michael Champion, Beesley Clare, Pauline Hensman, Lara Abulhoul, Michelle Wood, Heather J. Church, Siakat Santra, Suresh Vijay, Simon Jones, Karen Tylee, Niamh Finnegan, Maureen Cleary, Anupam Chakrapani, and Derek Burke

Subjects
Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Disease, Enzyme replacement therapy, Biochemistry, Endocrinology, Genetics, Medicine, In patient, Infantile onset, business, Molecular Biology
Published
2015
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32. CLN8 disease caused by large genomic deletions.

Author

Beesley, Clare, Guerreiro, Rita J., Bras, Jose T., Williams, Ruth E., Taratuto, Ana Lia, Eltze, Christin, and Mole, Sara E.

Subjects
*NEURONAL ceroid-lipofuscinosis, *MEDICAL genetics, *GENE expression, *AMINO acid analysis, *DNA analysis, *GENETICS
Abstract

Background The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. Method The DNA of patients was analyzed in a diagnostic setting. Results We present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele - their deletions unmasked a mutation in CLN8 on the other chromosome. Conclusion Microarray analysis is recommended in any patient suspected of NCL who is apparently homozygous for a mutation that is not present in one of the parents or when the family has no known consanguinity. [ABSTRACT FROM AUTHOR]

Published
2017
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34. Diagnosis of congenital disorders of glycosylation type‐I using protein chip technology

Author

Mills, Kevin, primary, Mills, Philippa, additional, Jackson, Marie, additional, Worthington, Viki, additional, Beesley, Clare, additional, Mann, Anúska, additional, Clayton, Peter, additional, Grunewald, Stephanie, additional, Keir, Geoffrey, additional, Young, Liz, additional, Langridge, James, additional, Mian, Nasi, additional, and Winchester, Bryan, additional

Published
2006
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36. Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Author

Hermans, Monique M.P., primary, Leenen, Dik van, additional, Kroos, Marian A., additional, Beesley, Clare E., additional, Van der Ploeg, Ans T., additional, Sakuraba, Hitoshi, additional, Wevers, Ron, additional, Kleijer, Wim, additional, Michelakakis, Helen, additional, Kirk, Edwin P., additional, Fletcher, Janice, additional, Bosshard, Nils, additional, Basel-Vanagaite, Lina, additional, Besley, Guy, additional, and Reuser, Arnold J.J., additional

Published
2003
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40. Case of X-Linked Myopathy With Excessive Autophagy.

Author

Chow, Gabriel, Beesley, Clare E., Robson, Keith, Winchester, Bryan G., and Holton, Janice L.

Subjects
*MUSCLE diseases, *NEUROLOGY, *THERAPEUTICS, *JUVENILE diseases, *GLYCOGEN storage disease, *HEART failure, *RESPIRATORY insufficiency, *NERVOUS system, *PATHOLOGICAL psychology
Abstract

We report a 12-year-old boy with a vacuolar myopathy with clinical and histologic features of X-linked myopathy with excessive autophagy. This is a rare and slowly progressive disease of skeletal muscle without cardiac, nervous system, or other organ involvement. The differential diagnosis of vacuolar myopathy includes acid maltase deficiency, Danon disease, and X-linked myopathy with excessive autophagy. [ABSTRACT FROM AUTHOR]

Published
2006
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41. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

Author

Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, and Reuser AJ

Subjects
Adolescent, Aged, Animals, COS Cells, Child, Child, Preschool, Genotype, Glucan 1,4-alpha-Glucosidase metabolism, Glycogen Storage Disease Type II diagnosis, Glycogen Storage Disease Type II enzymology, Humans, Infant, Mutation, Missense, Phenotype, Polymorphism, Genetic, alpha-Glucosidases, Glucan 1,4-alpha-Glucosidase genetics, Glycogen Storage Disease Type II genetics, Mutation
Abstract

Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid alpha-glucosidase deficiency. The disease is inherited as an autosomal recessive trait with a spectrum of clinical phenotypes. We have investigated 29 cases of GSDII and thereby identified 55 pathogenic mutations of the acid alpha-glucosidase gene (GAA) encoding acid maltase. There were 34 different mutations identified, 22 of which were novel. All of the missense mutations and two other mutations with an unpredictable effect on acid alpha-glucosidase synthesis and function were transiently expressed in COS cells. The effect of a novel splice-site mutation was investigated by real-time PCR analysis. The outcome of our analysis underscores the notion that the clinical phenotype of GSDII is largely dictated by the nature of the mutations in the GAA alleles. This genotype-phenotype correlation makes DNA analysis a valuable tool to help predict the clinical course of the disease., (Copyright 2003 Wiley-Liss, Inc.)

Published
2004
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