Results 171 to 180 of about 240,630 (269)

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human tissues. [PDF]

Nucleic Acids Res
Shea A, Sun S, Kennedy J, Zhang L, Vijg J, Dong X.   +5 more
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Relating sparse and predictive coding to divisive normalization. [PDF]

PLoS Comput Biol
Lian Y, Burkitt AN.
europepmc   +1 more source

Development of a Personalized Visualization and Analysis Tool to Improve Clinical Care in Complex Multisystem Diseases With Application to Scleroderma

Arthritis Care &Research, EarlyView.
Objective In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently, and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of the trajectory of a ...
Ji Soo Kim, John Scott, Lauren Fisher, Lauren N. Smith, Willie Stewart, Adrianne Woods, Rob Smithwright, Diane Koher, Parastoo Aslanbeik, Aalok B. Shah, Brad Tibbils, Samantha I. Pitts, Ayse P. Gurses, Yushi Yang, Ana‐Maria Orbai, Antony Rosen, Laura K. Hummers, Scott L. Zeger, Ami A. Shah   +18 more
wiley   +1 more source

From nucleotides to numbers: a comprehensive review of RNA feature extraction methods for computational modelling. [PDF]

Brief Bioinform
Safari F, Tree JJ, Vafaee F.
europepmc   +1 more source

Lived and Care Experiences of Chronic Musculoskeletal Shoulder Pain in Australian Adults: A Qualitative Study

Arthritis Care &Research, EarlyView.
Objective Australian evidence on lived and care experiences of chronic musculoskeletal shoulder pain (CMSP), irrespective of disorder classification or disease, is limited. However, such evidence is important for person‐centered care and informing local service pathways and care guidelines or standards.
Sonia Ranelli, Joanne E. Jordan, Ilana N. Ackerman, Alison Thorpe, Jennifer G. Persaud, Linda J. Woodhouse, Jason Chua, Ben Horgan, Andrew M. Briggs   +8 more
wiley   +1 more source

A comprehensive survey of genome language models in bioinformatics. [PDF]

Brief Bioinform
Shu L, Tang J, Guan X, Zhang D.
europepmc   +1 more source

Hydroxychloroquine Associated With Lower Glomerular Filtration Rate Decline in Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) protects kidney function in lupus nephritis (LN) by preventing flares, yet some cohort studies show no significant benefit in kidney function with HCQ. Clarifying these conflicting findings by showing early and long‐term benefits of HCQ on kidney function preservation is critical.
Shivani Garg, Brad Rovin, Brad C. Astor, Tripti Singh, Fauzia Hollnagel, Megan Kuik, Lexie Kolton, Callie Saric, S. Sam Lim, Christie M. Bartels   +9 more
wiley   +1 more source

Cross-sectional analysis of accuracy versus interpretability in Medicare Advantage risk adjustment. [PDF]

Health Policy Open
Lozinski M.
europepmc   +1 more source