Results 281 to 290 of about 10,943,386 (377)

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

Patient-Perceived Quality Assessment in Orthopedics and Traumatology Departments during COVID-19 Pandemic. [PDF]

Healthcare (Basel)
Bancsik K, Ilea CDN, Daina MD, Bancsik R, Șuteu CL, Bîrsan SD, Manole F, Daina LG.   +7 more
europepmc   +1 more source

A Systematic Clinical Framework for Postimplantation Monitoring in Thalamic Neuromodulation: Insights From Twiddler's Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah, Ganne Chaitanya, Jeston Chin, Nicholas Delcimmuto, Jay R. Gavvala   +4 more
wiley   +1 more source

The effect of received social support on preferred coping strategies and perceived quality of life in adolescents during the covid-19 pandemic. [PDF]

Sci Rep
Jurek K, Niewiadomska I, Chwaszcz J.
europepmc   +1 more source

Performance of Composite Endpoints Defining Progression Independent of Relapse Activity in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The characteristics and utility of composite progression independent of relapse activity (cPIRA; worsening on the Expanded Disability Status Scale [EDSS], or 9‐Hole Peg Test, or Timed 25‐Foot Walk Test) were evaluated as an endpoint in relapsing multiple sclerosis (RMS) trials using the ENSEMBLE (NCT03085810) and pooled OPERA I/II ...
Ludwig Kappos, Sean Yiu, Jason Reucassel, Jiwon Oh, Cristina Granziera, Joep Killestein, Robert A. Bermel, Claude Berge, Agne Kazlauskaite, Hans‐Martin Schneble, Frank Dahlke, Bruce A. C. Cree   +11 more
wiley   +1 more source

Emotional regulation and self-perceived quality of life in high-performance mountain sports athletes. [PDF]

Front Psychol
Rojo-Ramos P, Galán-Arroyo C, Gómez-Paniagua S, Castillo-Paredes A, Rojo-Ramos J.   +4 more
europepmc   +1 more source

Continuous 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 more
wiley   +1 more source

Research on the influence of perceived quality on users' continuance usage intention of online live streaming class platforms: the mediating role of flow experience and the moderating impact of perceived usefulness. [PDF]

Front Psychol
Wu F, Xie G.
europepmc   +1 more source

PHP25 HEALTH-RELATED QUALITY OF LIFE ASSESSMENT IN PHARMACEUTICAL CARE: EVALUATING PHARMACIST'S KNOWLEDGE, UNDERSTANDING AND PERCEIVED BARRIERS IN PHARMACY PRACTICE

, 2006
P Chandak, W. K. Wu, Nancy Pantaleo
openalex   +1 more source

Cervical 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 more
wiley   +1 more source