Results 161 to 170 of about 2,229,339 (290)

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

Compact integrated self-multiplexing antenna for sub-6 GHz and millimeter wave 5G frequency spectrum. [PDF]

Sci Rep
Srivastava G, Kumar A, Rana S, Kumar V, Mohan A, Kumar S, Ali T.   +6 more
europepmc   +1 more source

Prognostic Implications of Sleep Architecture for Patients Admitted to the Intensive Care Unit With Status Epilepticus

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Status epilepticus (SE) is associated with significant mortality. Sleep architecture may reflect normal brain function. Impaired sleep architecture is associated with poorer outcomes in numerous conditions. Here we investigate the association of sleep architecture in continuous EEG (cEEG) with survival in SE.
Ran R. Liu, Marcus C. Ng, Gavin P. Winston, Sabrina Schaly, Garima Shukla, Lysa Boissé Lomax   +5 more
wiley   +1 more source

A genetic map of human metabolism across the allele frequency spectrum. [PDF]

Nat Genet
Zoodsma M, Beuchel C, Yasmeen S, Kohleick L, Nepal A, Koprulu M, Kronenberg F, Mayr M, Williamson A, Pietzner M, Langenberg C.   +10 more
europepmc   +1 more source

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source

Limit theorems for the site frequency spectrum of neutral mutations in an exponentially growing population. [PDF]

Stoch Process Their Appl
Gunnarsson EB, Leder K, Zhang X.
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

Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum. [PDF]

Nat Genet
Lee DSM, Cardone KM, Zhang DY, Tsao NL, Abramowitz S, Sharma P, DePaolo JS, Conery M, Aragam KG, Biddinger K, Dikilitas O, Hoffman-Andrews L, Judy RL, Khan A, Kullo IJ, Puckelwartz MJ, Reza N, Satterfield BA, Singhal P, Penn Medicine Biobank, Arany Z, Cappola TP, Carruth ED, Day SM, Do R, Haggerty CM, Joseph J, McNally EM, Nadkarni G, Owens AT, Rader DJ, Ritchie MD, Sun YV, Voight BF, Levin MG, Damrauer SM.   +35 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum. [PDF]

Nat Genet
Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, Lassen FH, Parker MJ, Reibe S, Elhakeem A, Banasik K, Bruun MT, Erikstrup C, Aagard Jensen B, Juul A, Mikkelsen C, Nielsen HS, Ostrowski SR, Pedersen OB, Rohde PD, Sørensen E, Ullum H, Westergaard D, Haraldsson A, Holm H, Jonsdottir I, Olafsson I, Steingrimsdottir T, Steinthorsdottir V, Thorleifsson G, Figueredo J, Karjalainen MK, Pasanen A, Jacobs BM, Kalantzis G, Hubers N, Genes & Health Research Team, Estonian Biobank Research Team, Estonian Health Informatics Research Team, DBDS Genomic Consortium, FinnGen, Lippincott M, Fraser A, Lawlor DA, Timpson NJ, Nyegaard M, Stefansson K, Magi R, Laivuori H, van Heel DA, Boomsma DI, Balasubramanian R, Seminara SB, Chan YM, Laisk T, Lindgren CM.   +55 more
europepmc   +1 more source