Results 161 to 170 of about 285,779 (275)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Correction: Widespread 3'UTR capped RNAs derive from G-rich regions in proximity to AGO2 binding sites. [PDF]

BMC Biol
Haberman N, Digby H, Faraway R, Cheung R, Chakrabarti AM, Jobbins AM, Parr C, Yasuzawa K, Kasukawa T, Yip CW, Kato M, Takahashi H, Carninci P, Vernia S, Ule J, Sibley CR, Martinez-Sanchez A, Lenhard B.   +17 more
europepmc   +1 more source

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri, Isabella Dallasta, Ciaran Stone, Sophia Girgenti, Neda Gould, Rafael H. Llinas, Jonathan Z. Simon, Elisabeth Breese Marsh   +7 more
wiley   +1 more source

Severe mitral regurgitation with bidirectional Coanda effect. [PDF]

Neth Heart J
Klop B, Timmermans NMAJ, van de Ven ART, Verberkmoes N, de Ridder S.   +4 more
europepmc   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Light Filtering Lenses and Visual Photosensitivity in Individuals With Traumatic Brain Injury. [PDF]

Invest Ophthalmol Vis Sci
Aguilar MC, Durkee H, Gonzalez A, Lai J, Chou B, Valdes Arias D, Patel SP, Echeverri Tribin F, Bhatt S, Rowaan C, Alvarez G, Hurwitz BE, Lam BL, Felix ER, Parel JA, Galor A.   +15 more
europepmc   +1 more source

Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani, Lakshmi Pillai, Reid D. Landes, Aliyah Glover, Shannon Doerhoff, Jennifer Kleiner, Mitesh Lotia, Rohit Dhall, Edgar Garcia‐Rill   +8 more
wiley   +1 more source

Reply: Correcting Misaligned Risk Comparisons Between LDL-C Levels and Polygenic Risk Scores. [PDF]

JACC Adv
Iribarren C, Elosua R, Gulati M, Wong ND, Rana JS.   +4 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Detailed Outer Retinal Assessment in Parkinson's Disease Using Directional OCT. [PDF]

Invest Ophthalmol Vis Sci
Lin J, Lee PY, Tran KKN, Finkelstein DI, Bui BV, Nguyen CTO.   +5 more
europepmc   +1 more source