The phenotype of congenital insensitivity to pain due to the Na(V)1.9 variant p.L811P

od Woods, Christopher Geoffrey, Babiker, Mohamed Osman Eltahir, Horrocks, Iain, Tolmie, John, Kurth, Ingo
izdano v Eur J Hum Genet (2015)

The phenotype of congenital insensitivity to pain due to the Na(V)1.9 variant p.L811P

od Woods, Christopher Geoffrey, Babiker, Mohamed Osman Eltahir, Horrocks, Iain, Tolmie, John, Kurth, Ingo
izdano v Eur J Hum Genet (2015)

Fractures and Linear Growth in a Nationwide Cohort of Boys With Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results From the UK NorthStar Database

od Joseph, Shuko, Wang, Cunyi, Bushby, Kate, Guglieri, Michaela, Horrocks, Iain, Straub, Volker, Ahmed, S. Faisal, Wong, Sze Choong
izdano v JAMA Neurol (2019)

Skeletal disproportion in glucocorticoid-treated boys with Duchenne muscular dystrophy

od Kao, Kung-Ting, Joseph, Shuko, Capaldi, Nadia, Brown, Sarah, Di Marco, Marina, Dunne, Jennifer, Horrocks, Iain, Shepherd, Sheila, Ahmed, Syed Faisal, Wong, Sze Choong
izdano v Eur J Pediatr (2019)

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

od Jurkute, Neringa, Shanmugarajah, Priya D., Hadjivassiliou, Marios, Higgs, Jenny, Vojcic, Miodrag, Horrocks, Iain, Nadjar, Yann, Touitou, Valerie, Lenaers, Guy, Poh, Roy, Acheson, James, Robson, Anthony G., Raymond, F. Lucy, Reilly, Mary M., Yu-Wai-Man, Patrick, Moore, Anthony T., Webster, Andrew R., Arno, Gavin
izdano v Invest Ophthalmol Vis Sci (2021)

Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study

od Ng, Yi Shiau, Martikainen, Mika H., Gorman, Gráinne S., Blain, Alasdair, Bugiardini, Enrico, Bunting, Apphia, Schaefer, Andrew M., Alston, Charlotte L., Blakely, Emma L., Sharma, Sunil, Hughes, Imelda, Lim, Albert, de Goede, Christian, McEntagart, Meriel, Spinty, Stefan, Horrocks, Iain, Roberts, Mark, Woodward, Cathy E., Chinnery, Patrick F., Horvath, Rita, Nesbitt, Victoria, Fratter, Carl, Poulton, Joanna, Hanna, Michael G., Pitceathly, Robert D. S., Taylor, Robert W., Turnbull, Doug M., McFarland, Robert
izdano v Ann Neurol (2019)

Developing Standardized Corticosteroid Treatment for Duchenne Muscular Dystrophy

od Guglieri, Michela, Bushby, Kate, McDermott, Michael P., Hart, Kimberly A., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Willis, Tracey, Hirtz, Deborah, Shieh, Perry B., Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Butterfield, Russell J., Horrocks, Iain, Spinty, Stefan, Flanigan, Kevin M., Kuntz, Nancy L., Baranello, Giovanni, Roper, Helen, Morrison, Leslie, Mah, Jean K., Manzur, Adnan Y., McDonald, Craig M., Schara, Ulrike, von der Hagen, Maja, Barohn, Richard J., Campbell, Craig, Darras, Basil T., Finkel, Richard S., Vita, Giuseppe, Hughes, Imelda, Mongini, Tiziana, Pegoraro, Elena, Wicklund, Matthew, Wilichowski, Ekkehard, Burnette, W. Bryan, Howard, James F., McMillan, Hugh J., Thangarajh, Mathula, Griggs, Robert C.
izdano v Contemp Clin Trials (2017)

A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial

od Crow, Rebecca A., Hart, Kimberly A., McDermott, Michael P., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y., Morandi, Lucia, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Flanigan, Kevin M., Kuntz, Nancy L., Mah, Jean K., Morrison, Leslie, Darras, Basil T., von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M., Vita, Giuseppe, Barohn, Richard J., Finkel, Richard S., Wicklund, Matthew, McMillan, Hugh J., Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W., Howard, James F., Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C., Bushby, Kate, Guglieri, Michela
izdano v Trials (2018)