Results 231 to 240 of about 1,497,290 (270)

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 more
wiley   +1 more source

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we explored the pre‐implant factors affecting GPi‐DBS effectiveness.
Mahboubeh Ahmadipour, Luigi M. Romito, Antonio E. Elia, Nico Golfré Andreasi, Roberto Eleopra, Alberto Mazzoni, Fabiana Colucci   +6 more
wiley   +1 more source

The 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 more
wiley   +1 more source

Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing, Imis Dogan, Rena Theda Overbeck, Kathrin Reetz, Sandro Romanzetti   +4 more
wiley   +1 more source

Cognitive and Patient‐Reported Outcome Measures in LGI‐1‐IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical outcome measures for autoimmune encephalitis (AE) are not yet well defined. Cognitive outcome measures (CogOs) and patient‐reported outcomes (PROs) may capture the symptoms of AE, beyond clinician‐reported outcomes (ClinROs) (the Modified Rankin Scale [mRS] and Clinical Assessment Scale in Autoimmune Encephalitis [CASE ...
Tatchaporn Ongphichetmetha, Carol Swetlik, Nicolas Thompson, Albert Aboseif, Vineet Punia, Brittany Lapin, Jeffrey A. Cohen, Rachel Galioto, Amy Kunchok   +8 more
wiley   +1 more source

The 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 more
wiley   +1 more source

BCS1L‐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 more
wiley   +1 more source

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On the Determination of Sample Sizes in Designing Experiments

Journal of the American Statistical Association, 1948
Abstract Methods are developed for determining sample sizes required to estimate means of normal populations with given precision, or to give significance when means differ by a specified amount. The methods assume that an estimate of the variance has been obtained from a previous or preliminary experiment.
Marilyn Harris, D. G. Horvitz, Alexander M. Mood   +2 more
openaire   +3 more sources

Determining Sample Size

Journal of the American Statistical Association, 1944
(1944). Determining Sample Size. Journal of the American Statistical Association: Vol. 39, No. 228, pp. 497-506.
openaire   +2 more sources

Sample size determination: a review [PDF]

Journal of the Royal Statistical Society: Series D (The Statistician), 1997
This paper is concerned with methods of sample size determination. The approach is to cover a small number of simple problems, such as estimating the mean of a normal distribution or the slope in a regression equation, and to present some key techniques. The methods covered are in two groups: frequentist and Bayesian. Frequentist methods specify a null
openaire   +1 more source