Results 191 to 200 of about 562,363 (310)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Ligand-based pharmacophore modeling for the discovery of Na_V1.7 inhibitors. [PDF]

J Comput Aided Mol Des
Piga M, Lukacs P, Pesti K, Várady G, Varga Z, Zidar N, Tomašič T.   +6 more
europepmc   +1 more source

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source

Mixed Reality as an Environment for Reaction Speed Assessment in Physically Active Young Adults: Measurement Reliability and Participant Experience Compared with Immersive Virtual Reality. [PDF]

Sensors (Basel)
Polechoński J, Dębska-Janus M, Kostorz K, Rozpara M, Zając-Gawlak I, Nawrocka A, Cholewa J.   +6 more
europepmc   +1 more source

From Adult to Adolescent: Alignment in Clinical Trials and Outcomes in Axial Spondyloarthritis

Arthritis Care &Research, EarlyView.
Spondyloarthritis (SpA) is a group of chronic inflammatory diseases encompassing axial and peripheral forms, with up to 20% of patients developing symptoms before age 16. Despite this substantial pediatric burden, treatment options for juvenile‐onset SpA (JSpA), particularly those with axial disease (axJSpA), remain limited.
Pamela F. Weiss, Judith A. Smith, Robert A. Colbert, Erin Treemarcki, Michael H. Weisman, Walter P. Maksymowych, Hermine I. Brunner, for the Childhood Arthritis and Rheumatology Research Alliance, Spondyloarthritis Research and Treatment Network, and Pediatric Rheumatology Collaborative Study Group Advisory Council   +9 more
wiley   +1 more source

Hard hits of distress

Journal of Pediatric Rehabilitation Medicine, 2020
Wendy Dean, Simon G. Talbot
doaj   +1 more source

Genetic architectures of brain-related traits are shaped by strong selective constraints. [PDF]

Proc Natl Acad Sci U S A
Zhu H, Simons YB, Spence JP, Sella G, Pritchard JK.   +4 more
europepmc   +1 more source

Understanding the Burden of Orofacial Involvement and Patient Treatment Preferences in Systemic Sclerosis: Results From a Large International Survey

Arthritis Care &Research, EarlyView.
Objective Orofacial manifestations are significantly impactful in patients with systemic sclerosis (SSc) yet remain understudied, with no dedicated clinical guidelines to inform their management. Methods An international online survey comprised38 questions addressing orofacial manifestations of SSc, including patients’ confidence in their treating ...
Eleni Deligianni, Lee Shapiro, Deana Gibbs, Zsuzsanna H. McMahan, Michael Hughes   +4 more
wiley   +1 more source

Simulation of Neurotrophin Receptor Transmembrane Helix Interactions Reveals Active States and Distinct Signaling Mechanisms

JACS Au
Christina Athanasiou, Ainara Claveras Cabezudo, Alexandros Tsengenes, Rebecca C. Wade   +3 more
doaj   +1 more source

Assessing the Generalizability of Machine Learning and Physics-Based Methods with DNA-Encoded Libraries. [PDF]

J Chem Inf Model
Dolorfino M, Santos Perez D, Fu Y, Lin SH, McCarty S, O'Meara MJ, Sztain T.   +6 more
europepmc   +1 more source