Results 231 to 240 of about 351,266 (307)
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 sourceRelevance of Kappa and Lambda Free Light Chains in Autoimmune Astrocytopathy Associated With Anti‐GFAP Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction
The kappa‐free light chain (κ‐FLC) index is known to be highly sensitive and specific for diagnosing multiple sclerosis (MS), while little is understood about lambda (λ)‐FLC. This study assessed the κ‐FLC and λ‐FLC indices in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.Michael Levraut, Romain Marignier, Mikael Cohen, Jeanne Benoit, Cassandre Landes‐Chateau, Elisabeth Maillart, Marion Cremoni, Barbara Seitz‐Polski, Anne‐Laurie Pinto, Pauline Dumez, Jérôme Honnorat, Christine Lebrun‐Frenay +11 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 sourceMechanical Thrombectomy for TRACE‐III‐Eligible Patients With Ischemic Stroke: A Multicenter Retrospective Study Compared to TRACE‐III and TIMELESS Trials
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
The results of the TRACE‐III trial demonstrated that tenecteplase (TNK) might be comparable to TNK combined with mechanical thrombectomy (MT) for large vessel occlusion (LVO) stroke within 4.5 to 24 h of onset, as tested in the TIMELESS trial.Chongyang Huang, Yanru Liu, Jiangang Zhang, Sheng Guan, Tao Quan, Zhen Chen, Xiaojie Fu, Sen Wei, Kaihao Han, Xiaoan Zhou, Chengcheng Zhu, Edgar Samaniego, Yueqi Zhu, Haowen Xu +13 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 source
