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

Por Woods, Christopher Geoffrey, Babiker, Mohamed Osman Eltahir, Horrocks, Iain, Tolmie, John, Kurth, Ingo
Publicado no Eur J Hum Genet (2015)

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

Por Woods, Christopher Geoffrey, Babiker, Mohamed Osman Eltahir, Horrocks, Iain, Tolmie, John, Kurth, Ingo
Publicado no 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

Por Joseph, Shuko, Wang, Cunyi, Bushby, Kate, Guglieri, Michaela, Horrocks, Iain, Straub, Volker, Ahmed, S. Faisal, Wong, Sze Choong
Publicado no JAMA Neurol (2019)

Skeletal disproportion in glucocorticoid-treated boys with Duchenne muscular dystrophy

Por Kao, Kung-Ting, Joseph, Shuko, Capaldi, Nadia, Brown, Sarah, Di Marco, Marina, Dunne, Jennifer, Horrocks, Iain, Shepherd, Sheila, Ahmed, Syed Faisal, Wong, Sze Choong
Publicado no Eur J Pediatr (2019)

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

Por 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
Publicado no Ann Neurol (2019)

Developing Standardized Corticosteroid Treatment for Duchenne Muscular Dystrophy

Por 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.
Publicado no Contemp Clin Trials (2017)

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

Por 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
Publicado no Trials (2018)