Results 311 to 320 of about 12,155,964 (381)
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 sourceThe Diagnostic Value of Visual Evoked Potentials in Chronic Disorders of Consciousness
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
In chronic disorders of consciousness (DOCs), the distinction between vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious state (MCS) is as crucial as it is challenging. Evoked potentials (EPs) and event‐related potentials (ERPs) are helpful, but some limitations prevent their consistent use in the ...Letizia Clementi, Francesca Giulia Magnani, Filippo Barbadoro, Camilla Ippoliti, Martina Cacciatore, Davide Sattin, Valeria Pingue, Benedetta Cazzulani, Jorge Navarro, Elena Schiaffi, Laura Grigoletti, Cristina Rosazza, Anna Nigri, Matilde Leonardi, Davide Rossi Sebastiano +14 morewiley +1 more sourceThe MSA Atrophy Index (MSA‐AI): An Imaging Marker for Diagnosis and Clinical Progression in Multiple System Atrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Reliable biomarkers are essential for tracking disease progression and advancing treatments for multiple system atrophy (MSA). In this study, we propose the MSA Atrophy Index (MSA‐AI), a novel composite volumetric measure to distinguish MSA from related disorders and monitor disease progression. Methods
Seventeen participants with an Paula Trujillo, Kilian Hett, Amy Cooper, Amy E. Brown, Jessica Iregui, Manus J. Donahue, M. Erik Landman, Italo Biaggioni, Margaret Bradbury, Cynthia Wong, David Stamler, Daniel O. Claassen +11 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 sourceCervical Spinal Cord Magnetization Transfer Ratio and Its Relationship With Clinical Outcomes in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...Lisa Eunyoung Lee, Julien Cohen‐Adad, Irene M. Vavasour, Melanie Guenette, Katherine Sawicka, Neda Rashidi‐Ranjbar, Nathan Churchill, Akash Chopra, Adelia Adelia, Pierre‐Louis Benveniste, Anthony Traboulsee, Nathalie Arbour, Fabrizio Giuliani, Larry D. Lynd, Scott B. Patten, Alexandre Prat, Alice Schabas, Penelope Smyth, Roger Tam, Yunyan Zhang, Simon J. Graham, Mojgan Hodaie, Anthony Feinstein, Shannon Kolind, Tom A. Schweizer, Jiwon Oh, CanProCo Study Group +26 morewiley +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