Results 261 to 270 of about 4,025,746 (356)
Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Laurent Servais, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network, M. Scoto, A. Sarkozy, P. Munot, S. Robb, E. Chan, V. Robinson, W. Girshab, V. Crook, E. Milev, L. Abbott, A. Wolfe, E. O’Reilly, J. Watts‐Whent, N. Burnett, R. Thomas, R. Terespolsky, O. Martinaeu, J. Longatto, V. Straub, 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, D. Parasuraman, 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, Francesco Muntoni +152 morewiley +1 more sourceBCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives
To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann +11 morewiley +1 more sourceContinuous Monitoring of Bladder Dysfunction in People With Multiple Sclerosis: Wearables for the Bladder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Bladder dysfunction affects over 85% of people with multiple sclerosis (PwMS), yet current assessment methods are limited to periodic in‐clinic evaluations or subjective patient reports, failing to capture real‐world symptom fluctuations.Valerie J. Block, Shane Poole, Leah McIntyre, Nikki Sisodia, Chelyn Park, Gabby Joseph, Michelle E. Van Kuiken, Anne M. Suskind, Riley Bove +8 morewiley +1 more sourceNeutron capture measurements for s-process nucleosynthesis: A review about CERN n_TOF developments and contributions. [PDF]
Eur Phys J A Hadron NuclDomingo-Pardo C, Aberle O, Alcayne V, Alpar G, Halabi MA, Amaducci S, Babiano V, Bacak M, Balibrea-Correa J, Bartolomé J, Bernardes AP, Gameiro BB, Berthoumieux E, Beyer R, Birch M, Boromiza M, Bosnar D, Brusasco B, Caamaño M, Cahuzac A, Calviño F, Calviani M, Cano-Ott D, Casanovas A, Castelluccio DM, Catlett D, Cerutti F, Cescutti G, Chiaveri E, Claps G, Colombetti P, Colonna N, Camprini PC, Cortés G, Cortés-Giraldo MA, Cosentino L, Cristallo S, D'Ottavi A, de la Fuente Rosales G, Dellmann SF, Diakaki M, Di Castro M, Di Chicco A, Dietz M, Dupont E, Durán I, Eleme Z, Eslami M, Fargier S, Fernández-Domínguez B, Finocchiaro P, Flanagan W, Furman V, Gandhi A, García-Infantes F, Gawlik-Ramiega A, Gervino G, Gilardoni S, González-Romero E, Goula S, Griesmayer E, Guerrero C, Gunsing F, Gustavino C, Heyse J, Hillman W, Jenkins DG, Jericha E, Junghans A, Kadi Y, Kaperoni K, Kelly I, Kokkoris M, Kopatch Y, Krtička M, Kyritsis N, Lederer-Woods C, Lerendegui-Marco J, Manna A, Martínez T, Martínez-Cañada M, Masi A, Massimi C, Mastinu P, Mastromarco M, Maugeri EA, Mazzone A, Mendoza E, Mengoni A, Michalopoulou V, Milazzo PM, Moldenhauer J, Mucciola R, González EM, Musumarra A, Negret A, Odusina E, Papanikolaou D, Patronis N, Pavón-Rodríguez JA, Pellegriti MG, Pérez-Maroto P, de Rada Fiol AP, Perfetto G, Perkowski J, Petrone C, Pieretti N, Piersanti L, Pirovano E, Porras I, Praena J, Quesada JM, Reifarth R, Rochman D, Romanets Y, Rooney A, Rovira G, Rubbia C, Sánchez-Caballero A, Sahoo RN, Scarpa D, Schillebeeckx P, Smith AG, Sosnin NV, Spelta M, Stamati ME, Stasiak K, Tagliente G, Tarifeño-Saldivia A, Tarrío D, Torres-Sánchez P, Tosi S, Tsiledakis G, Valenta S, Vaz P, Vecchio G, Vescovi D, Vlachoudis V, Vlastou R, Wallner A, Weiss C, Woods PJ, Wright T, Wu R, Žugec P, The n_TOF Collaboration. +145 moreeuropepmc +1 more sourceCorrelation Between Irisin and Cognitive Functions in Alzheimer Dementia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.Patrizia Pignataro, Manuela Dicarlo, Chiara Zecca, Daniele Urso, Maria Teresa Dell'Abate, Davide Vilella, Francesco Borlizzi, Roberta Zerlotin, Angela Oranger, Graziana Colaianni, Silvia Colucci, Maria Grano, Giancarlo Logroscino +12 morewiley +1 more source
