Quantitative assessment of sitting time in ambulant adults with Muscular Dystrophy

por Jacques, Matthew F., Onambele-Pearson, Gladys L., Edwards, Bryn, De Goede, Christian G., Morse, Christopher I.
Publicado 2021

Frequency of reported pain in adult males with muscular dystrophy

por Jacques, Matthew F., Stockley, Rachel C., Bostock, Emma I., Smith, Jonathon, DeGoede, Christian G., Morse, Christopher I.
Publicado 2019

Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features

por Absoud, Michael, Lim, Ming J, Chong, Wui K, De Goede, Christian G, Foster, Katharine, Gunny, Roxana, Hemingway, Cheryl, Jardine, Philip E, Kneen, Rachel, Likeman, Marcus, Nischal, Ken K, Pike, Michael G, Sibtain, Naomi A, Whitehouse, William P, Cummins, Carole, Wassmer, Evangeline
Publicado 2013

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

por Martin-Geary, Alexandra C, Blakes, Alexander J M, Dawes, Ruebena, Findlay, Scott D, Lord, Jenny, Walker, Susan, Talbot-Martin, Jonathan, Wieder, Nechama, D’Souza, Elston N, Fernandes, Maria, Hilton, Sarah, Lahiri, Nayana, Campbell, Christopher, Jenkinson, Sarah, DeGoede, Christian G E L, Anderson, Emily R, Burge, Christopher B., Sanders, Stephan J, Ellingford, Jamie, Baralle, Diana, Banka, Siddharth, Whiffin, Nicola
Publicado 2023

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

por Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian G E L, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, P Y Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud Y, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza
Publicado 2023