Results 191 to 200 of about 373,528 (267)
Literature-driven extraction and computational prediction of causal statements linking genetic variants to biological processes, pathways and phenotypes. [PDF]
Jiang J, Radivojac P, Gyori BM.
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental <i>COL4A5</i> Variant: A Case Report. [PDF]
Abu Nahla U +8 more
europepmc +1 more source
Objective This study aims to describe the frequency and timing of physician referrals to physical therapists (PTs) and other treatments prescribed over 12 months in patients with recent onset of knee osteoarthritis (KOA). The study also aims to identify determinants of early PT referrals.
Samannaaz S. Khoja +4 more
wiley +1 more source
Objectives There is growing interest in evaluating new strategies to delay or prevent post‐traumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury.
Kevin Kennedy +9 more
wiley +1 more source
Objective Recent inflammatory bowel disease (IBD) treatment guidelines have recommended against nonsteroidal anti‐inflammatory drug (NSAID) use despite prevalent musculoskeletal symptoms and opioid overuse in this population. Given the discordance between changing national guidelines and potential clinical utility, we sought to assess national temporal
Adam S. Mayer +5 more
wiley +1 more source
Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity. [PDF]
Moushib LI +12 more
europepmc +1 more source

