Results 261 to 270 of about 275,378 (374)
Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy
Developmental Medicine &Child Neurology, EarlyView.The analysis of height, weight, and BMI z‐score trajectories in boys with DMD from the FOR‐DMD study showed that higher baseline height was associated with slower subsequent growth, and older age with greater weight gain after glucocorticoid initiation.Marianela Schiava, Utkarsh J. Dang, Claire Wood, Sze Choong Wong, Leanne M. Ward, Robert Muni Lofra, Anna Mayhew, William B. Martens, Stephanie Gregory, Robert C. Griggs, Michela Guglieri, on behalf of the FOR‐DMD Muscle Study Group, Adnan Manzur, Amos Rachel, Andrea Gangfuss, Anne Marie Childs, Ashutosh Kumar, Barbara E. Herr, Basil T. Darras, Chris Speed, Craig Campbell, Craig M. McDonald, Ekkehard Wilichowski, Elaine McColl, Elena Pegoraro, Emma Ciafaloni, Erik K. Henricson, Federica Ricci, Gian Luca Vita, Giovanni Baranello, Giuseppe Vita, Helen Roper, Hugh J. McMillan, Iain A. Horrocks, Imelda Hughes, James F. Howard, Janbernd Kirschner, Jay J. Han, Jean K. Mah, Jeffrey M. Statland, Jennifer Wilkinson, Kate Bushby, Kathleen O’Reardon, Kevin M. Flanigan, Kimberly A. Hart, Leslie Morrison, Lorenzo Maggi, Luca Bello, Maja von der Hagen, Mary W. Brown, Mathula Thangarajh, Matthew Wicklund, Michael P. McDermott, Michelle Eagle, Monika Krzesniak‐Swinarska, Nancy L. Kuntz, Nanette Joyce, Perry B. Shieh, Peter B. Kang, Rabi Tawil, Richard J. Barohn, Richard S. Finkel, Russell J. Butterfield, Stefan Spinty, Taeun Chang, Tiziana E. Mongini, Tracey Willis, Ulrike Schara‐Schmidt, Volker Straub, W. Bryan Burnette, Wendy M. King, Zoya Alhaswani +71 morewiley +1 more sourceLong‐read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms
Epilepsia, EarlyView.Abstract Objective
Fibroblast growth factor 12 (FGF12), a member of the fibroblast homologous factor family, plays a key role in the modulation of voltage‐gated sodium (Nav) channels. Pathogenic variants in the FGF12 gene leading to a gain‐of‐function mechanism and partial duplication encompassing the FGF12 gene leading to a loss‐of‐function mechanism ...Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne‐Sophie Diependaële, Nathalie Bach, Nicolas Gruchy, Marion Gerard, Jean‐Pascal Meneboo, Céline Villenet, Martin Figeac, Emilie Ait‐Yahya, Caroline Thuillier, Elise Boudry, Adeline Trauffler, Sylvie Nguyen‐The‐Tich, Simon Boussion, Roseline Caumes, Jamal Ghoumid, Thomas Smol +18 morewiley +1 more sourcePrednisolone and Mycobacterium indicus pranii in tuberculous pericarditis.
New England Journal of Medicine, 2014 B. Mayosi, M. Ntsekhe, J. Bosch, Shaheen Pandie, Hyejung Jung, F. Gumedze, J. Pogue, L. Thabane, M. Smieja, V. Francis, L. Joldersma, K. M. Thomas, B. Thomas, A. Awotedu, N. Magula, D. Naidoo, A. Damasceno, Alfred Chitsa Banda, Basil G Brown, P. Manga, Bruce Kirenga, C. Mondo, P. Mntla, J. Tsitsi, F. Peters, M. Essop, J. Russell, J. Hakim, J. Matenga, A. F. Barasa, M. Sani, T. Olunuga, O. Ogah, V. Ansa, A. Aje, S. Danbauchi, D. Ojji, S. Yusuf +37 moresemanticscholar +1 more sourceClobazam versus corticosteroid for developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS): Results of a multicenter observational study
Epilepsia, EarlyView.Abstract Objective
Developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS) is associated with acquired cognitive and behavioral deficits. This international multicenter study aimed to compare cognitive and safety outcomes following initial treatment with corticosteroid and clobazam in patients not eligible for the ...Marleen M. L. van Arnhem, Linde J. Vijn, Guido Rubboli, Marianne Søndergaard Khinchi, Petia Dimova, Emilio Perucca, Valentina De Giorgis, Liisa Metsähonkala, Georgia Ramantani, Anna Jansen, Richard Chin, Lieven Lagae, Alexis Arzimanoglou, Wim M. Otte, Frans S. S. Leijten, Heleen C. van Teeseling, Kees P. J. Braun, Floor E. Jansen, Bart van den Munckhof +18 morewiley +1 more source
