Results 161 to 170 of about 619,025 (278)

Practice Recommendations for Genetic Testing of Ataxias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan, Amy D. Mook, Michelle Rochman, Jin Yun Helen Chen, Weiyi Mu, George R. Wilmot, Liana S. Rosenthal, Wendy R. Uhlmann   +7 more
wiley   +1 more source

Cognitive Impairment in Multiple Sclerosis: The Role of Clinical and Sociodemographic Factors ‐ A Systematic Review and Meta‐Analysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment (CI) affects the quality of life in multiple sclerosis (MS). Identifying influencing factors is key to improving CI monitoring. This systematic review and meta‐analysis examines clinical and sociodemographic variables impacting the cognitive screening Symbol Digit Modalities Test (SDMT) performance across MS ...
Katalin Lugosi, Marie A. Engh, Tamás Kói, Zsolt Molnár, Gábor Csukly, Klaudia Horváth, Emma Hargitai, Péter Hegyi, Zsolt Mezei   +8 more
wiley   +1 more source

Pre‐Diagnostic Features of Multiple Sclerosis in a Diverse UK Cohort: A Nested Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Many patients with Multiple Sclerosis (MS) experience nonspecific symptoms prior to diagnosis. This period—the 'MS prodrome'—has been described in socio‐economically homogeneous cohorts to date. It remains unclear to what extent events prior to an MS diagnosis differ according to social determinants of health. Methods We conducted a
Pooja Tank, Benjamin M. Jacobs, Jonathan Bestwick, Ruth Dobson   +3 more
wiley   +1 more source

A decade of innovation: the journey of Microsystems & Nanoengineering on its 10th anniversary. [PDF]

Microsyst Nanoeng
Cui T, White I, Wu Y.
europepmc   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

High-Throughput Computing to Detect Harmful Drug-Drug Interactions in Older Adults: Protocol for a Population-Based Cohort Study.

JMIR Res Protoc
Rostamzadeh N, Sharma R, Abdullah SS, McArthur E, Chalabianloo N, Sontrop JM, Weir MA, Sedig K, Garg AX, Muanda FT.   +9 more
europepmc   +1 more source

Mutual contextual relation-guided dynamic graph networks for cross-modal image-text retrieval. [PDF]

Sci Rep
Sucharitha G, Kalyani BJD, Raju ASN, Sitharamulu V, Guntreddi V, Potluri S.   +5 more
europepmc   +1 more source

Exploring Nasal Structural‐Microbial Interactions in Multiple Sclerosis‐Associated Olfactory Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Olfactory dysfunction is frequently observed in patients with multiple sclerosis (MS); however, its underlying mechanisms remain poorly understood. To date, no studies have directly examined the nasal mucosal microbiota in MS. This study aimed to explore potential relationships among olfactory function, nasal microbiota composition,
Zidan Gao, Zhuoma Danzhen, Yao Li, Junyu Zhu, Lan Chu, Zhang Yang   +5 more
wiley   +1 more source

Enhancing adverse drug reaction data quality in Canada: A high-precision pipeline for medication name standardization and enrichment. [PDF]

PLoS One
Chalabianloo N, Abdullah SS, Omrani MA, Jafari A, Sedig K, Muanda FT.   +5 more
europepmc   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source