Results 161 to 170 of about 4,213 (269)
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 sourceRilzabrutinib for the Treatment of Immune Thrombocytopenia
European Journal of Haematology, EarlyView.ABSTRACT
Advancements in the understanding of ITP pathogenesis have led to significant improvements in disease management through the use of both traditional immunosuppressive strategies and novel targeted therapies. However, a subset of patients remains refractory to treatment or achieves only transient benefits, underscoring the need for alternative ...Caterina Labanca, Enrica Antonia Martino, Ernesto Vigna, Antonella Bruzzese, Francesco Mendicino, Giulio Caridà, Eugenio Lucia, Virginia Olivito, Veronica Manicardi, Nicola Amodio, Antonino Neri, Fortunato Morabito, Massimo Gentile +12 morewiley +1 more sourceUpdated classification of epileptic seizures: Position paper of the International League Against Epilepsy
Epilepsia, EarlyView.Abstract
The International League Against Epilepsy (ILAE) has updated the operational classification of epileptic seizures, building upon the framework established in 2017. This revision, informed by the implementation experience, involved a working group appointed by the ILAE Executive Committee.Sándor Beniczky, Eugen Trinka, Elaine Wirrell, Fatema Abdulla, Raidah Al Baradie, Mario Alonso Vanegas, Stéphane Auvin, Mamta Bhushan Singh, Hal Blumenfeld, Alicia Bogacz Fressola, Roberto Caraballo, Mar Carreno, Fernando Cendes, Augustina Charway, Mark Cook, Dana Craiu, Birinus Ezeala‐Adikaibe, Birgit Frauscher, Jacqueline French, M. V. Gule, Norimichi Higurashi, Akio Ikeda, Floor E. Jansen, Barbara Jobst, Philippe Kahane, Nirmeen Kishk, Ching Soong Khoo, Kollencheri Puthenveettil Vinayan, Lieven Lagae, Kheng‐Seang Lim, Angelica Lizcano, Aileen McGonigal, Katerina Tanya Perez‐Gosiengfiao, Philippe Ryvlin, Nicola Specchio, Michael R. Sperling, Hermann Stefan, William Tatum, Manjari Tripathi, Elza Márcia Yacubian, Samuel Wiebe, Jo Wilmshurst, Dong Zhou, J. Helen Cross +43 morewiley +1 more sourceMBOAT7 encephalopathy: Characterizing the neurology and epileptology
Epilepsia, EarlyView.Abstract Objective
Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.Sebastian Ortiz De la Rosa, Valentina Rizzo, Robin‐Tobias Jauss, Tobias Bartolomaeus, Maria Escolar, Geneviève Bernard, Ralitza Gavrilova, Rebecca Ahrens‐Nicklas, Gabrielle Lemire, Kym M. Boycott, Saadet Mercimek‐Andrews, Paolo Prontera, Cinzia Costa, Bojana Rakic, Cornelius F. Boerkoel, Stephanie Huynh, Linda Huh, Elliott Sherr, Emanuela Argilli, Juan Darío Ortigoza‐Escobar, Didac Casas‐Alba, Tania Nunes, David A. Koolen, Konrad Platzer, Marianne S. Khinchi, Elena Gardella, Christina D. Fenger, Rikke S. Møller, Allan Bayat +28 morewiley +1 more sourceFamilial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant β2-microglobulin gene
, 2006 Manzoor A. Wani, Lynn D. Haynes, Jong-Han Kim, C. L. Bronson, Chaity Chaudhury, Sudhasri Mohanty, Thomas A. Waldmann, John M. Robinson, Clark L. Anderson +8 moreopenalex +1 more sourceFatty‐acid amide hydrolase inhibition mitigates Alzheimer's disease progression in mouse models of amyloidosis
The FEBS Journal, EarlyView.Enhancing endocannabinoid signaling by targeting FAAH effectively mitigates cognitive deficits, reduces amyloid pathology, and modulates neuroinflammatory responses in a preclinical model of Alzheimer's disease. This effect is potentially mediated by attenuating the Aβ‐induced overexpression of the Bace1 gene through CB1‐dependent hypermethylation of ...Sergio Oddi, Lucia Scipioni, Antonio Totaro, Giacomo Giacovazzo, Francesca Ciaramellano, Daniel Tortolani, Alessandro Leuti, Rita Businaro, Federica Armeli, Andras Bilkei‐Gorzo, Roberto Coccurello, Andreas Zimmer, Mauro Maccarrone +12 morewiley +1 more sourceAn adamantane‐based ligand as a novel chemical tool for thermosensory TRPM8 channel therapeutic modulation
The FEBS Journal, EarlyView.Transient receptor potential cation channel subfamily M member 8 (TRPM8) is a cationic thermosensory channel crucial for cold sensation and menthol response. TRPM8 dysfunction leads to sensory symptoms such as cold allodynia. Targeting TRPM8 is important for treating diseases like peripheral neuropathies and cancer.Angela Lamberti, Silvio Aprile, David Cabañero, Fabio Travagin, Laura Butron, Gregorio Fernández‐Ballester, Gian Cesare Tron, Asia Fernández‐Carvajal, Antonio Ferrer‐Montiel, Ubaldina Galli +9 morewiley +1 more source
