Results 101 to 110 of about 929,659 (335)

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

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

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

Role of brain perfusion SPECT with 99mTc HMPAO in the assessment of response to drug therapy in patients with autoimmune vasculitis: a prospective study [PDF]

, 2015
BACKGROUND: The diagnosis of vasculitis in the brain remains a quite difficult achievement. To the best of our knowledge, there is no imaging method reported in literature which is capable of reaching to a diagnosis of vasculitis with very high ...
Anna Margherita Maffione, 2, Christos, Anagnostou, CIVITELLI, Liana, COLLORONE, SARA, DRUDI, Francesco Maria, FRANCIA, Ada, LIBERATORE, Mauro, Maria Cristina Marzola, 3, MEGNA, VALENTINA, MORREALE, MANUELA, Rubello, Domenico, Sotirios Chondrogiannis, 2   +11 more
core   +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

Italian Wikipedia and epilepsy: an infodemiological study of online information-seeking behavior [PDF]

, 2018
Wikipedia is the most commonly accessed source of health information by both healthcare professionals and the lay public worldwide. We aimed to evaluate information-seeking behavior of Internet users searching the Italian Wikipedia for articles related ...
Bragazzi, Nicola Luigi, Brigo, Francesco, Galimberti, Carlo Andrea, Giussani, Giorgia, Lattanzi, Simona, Mecarelli, Oriano, Nardone, Raffaele, Pietrafusa, Nicola, Tassi, Laura   +8 more
core   +1 more source

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin, S. H. Subramony, the READISCA Consortium, David E. Vaillancourt, Tetsuo Ashizawa, Alexandra Durr, Thomas Mareci, Thomas Klockgether, Jennifer Faber, Henry L. Paulson, Gülin Öz, Matthew R. Burns   +11 more
wiley   +1 more source

Ticagrelor versus clopidogrel in CYP2C19 loss-of-function carriers with stroke or TIA stratified by age and renal function: CHANCE-2 trial substudy

Renal Failure
Objective To compare the efficacy and safety of ticagrelor versus clopidogrel in stroke patients who were CYP2C19 loss-of-function (LOF) carriers stratified by age and renal function.Methods Patients in the CHANCE-2 trial were randomized to ticagrelor ...
Yu Wu, Yilun Zhou, Yuesong Pan, Aoming Jin, Xia Meng, Hao Li, Yilong Wang, Yong Jiang, Yongjun Wang   +8 more
doaj   +1 more source

Correlation 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 more
wiley   +1 more source

Advances and Challenges in Cerebral Organoids Research

Advanced NanoBiomed Research
Cerebral organoids are three‐dimensional (3D) aggregates with a more advanced composition, maturation, and architecture. It has emerged as a novel and sophisticated model system for studying neurodevelopment and neurological disorders, in comparison to ...
Dandan Luo, Jiaqi Xu, Fuyao Liu, Zhen Gu
doaj   +1 more source