Results 281 to 290 of about 249,320 (341)
Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy
Developmental Medicine &Child Neurology, EarlyView.Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H. Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network, Francesco Muntoni, on behalf of the iMDEX Network, Joana Domingos, Victoria Selby, Amy Wolfe, Lianne Abbott, Efthymia Panagiotopoulou, Mario Iodice, Maria Ash, Imelda de Groot, Merel Jansen, Maaike Pelsma, Marian Bobbert, Menno Van Der Holst, Yvonne D. Krom, Marjolein J. van Heur‐Neuman, Thomas Voit, Valérie Decostre, Stéphanie Gilabert, Michela Guglieri, Alexander Murphy, Anna Mayhew, Mariacristina Scoto, Anna Sarkozy, Pinki Munot, Stephanie Robb, Elaine Chan, V Robinson, W Girshab, V Crook, E Milev, L Abbott, A Wolfe, E O’Reilly, J Watts‐When, N Burnett, R Thomas, R Terespolsky, O Martinaeu, J Longatto, C Bettolo, M Guglieri, J Diaz‐Manera, G Tasca, M Elseed, R Muni‐Lofra, M James, D Moat, J Sodhi, K Wong, E Robinson, E Groves, R Rabb, H McMurchie, H Chase, Tracey Willis, C Rylance, N Birchall, E Wright, A Childs, K Pysden, C Martos, D Roberts, L. Pallant, S Walker, A Henderson, R Madhu, R Karuvattil, Y Balla, S Gregson, S Clark, E Wraige, H Jungbluth, V Gowda, M Vanegas, J. Sheehan, A Schofield, C Smith, I Hughes, E Whitehouse, S Warner, E Reading, N Emery, J Moustoukas, K Strachan, M Ong, M Atherton, N Mills, S Sanchez Marco, A Saxena, K Skone, J TeWaterNaude, H Davis, C Wood, A Majumdar, A Murugan, I Guarino, R Tomlinson, H Jarvis, L Wills, C Frimpong, J Watson, G Cobb, G Robertson, P Brink, J Burslem, C Adams, J Wong, S Joseph, I Horrocks, J Dunne, M DiMarco, S Brown, S McKenzie, K Torne, R Mohamed, V Velmurugan, M Prasad, S Sedehizadeh, A Schugal, R Keetley, S Williamson, K Payne, E Dowling, P Fenty, C de Goede, A Parkes, K Baxter, M Illingworth, N Bhangu, S Geary, J Palmer, K Shill, S Tirupathi, A Shah, D O’Donogue, J McVeigh, J McFetridge, G Nicfhirleinn, H Beattie, T Leyland, K Stevenson, N Hussain, D Baskaran, Z Lambat, R Sullivan, L Locke, G Ambegaonkar, D Krishnakumar, J Taylor, J Moores, E Stephen, J Tewnion, S Ramdas, M Sa, A Skippen, M Khries, C Lilien, H Ramjattan, F Taylor, H English, K Stewart, F Flint, E Bartram, R Noble +176 morewiley +1 more sourcePreferential superficial cortical layer activation during seizure propagation
Epilepsia, Volume 66, Issue 3, Page 929-941, March 2025.Abstract Objective
Focal cortical seizures travel long distances from the onset zone, but the long‐distance propagation pathways are uncertain. In vitro and in vivo imaging techniques have investigated the local spread of seizures but did not elucidate long‐distance spread. Furthermore, classical studies in slices suggested seizure spread locally along Anastasia Brodovskaya, Shinnosuke Shiono, Chengsan Sun, Edward Perez‐Reyes, Jaideep Kapur +4 morewiley +1 more sourceUntranslated Region Sequences and the Efficacy of mRNA Vaccines against Tuberculosis. [PDF]
Int J Mol SciReshetnikov V, Terenin I, Shepelkova G, Yeremeev V, Kolmykov S, Nagornykh M, Kolosova E, Sokolova T, Zaborova O, Kukushkin I, Kazakova A, Kunyk D, Kirshina A, Vasileva O, Seregina K, Pateev I, Kolpakov F, Ivanov R. +17 moreeuropepmc +1 more sourceSystematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease
, 2023 Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D’Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. +21 moreeuropepmc +1 more sourceFamilial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy
Epilepsia, EarlyView.Abstract Objective
SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1‐related disorders.Alicia G. Harrison, Jan H. Magielski, Ian McSalley, Shiva Ganesan, Anna J. Prentice, Kristin G. Cunningham, Samuel R. Pierce, Michael J. Boland, Benjamin L. Prosser, Ingo Helbig, Jillian L. McKee +10 morewiley +1 more sourcePolymorphic Structure of the Tumor Necrosis Factor (TNF) Locus: An NcoI Polymorphism in the First Intron of the Human TNF-ß Gene Correlates with A Variant Amino Acid in Position 26 and a Reduced Level of TNF-ß Production [PDF]
, 1991 Blömer, Kathi, Honold, G., Jung, Maria C., Messer, Gerald, Pape, Gerd R., Riethmüller, Gert, Spengler, Ulrich, Weiss, Elisabeth H. +7 morecore +1 more source