Results 231 to 240 of about 332,460 (336)
Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu +17 more
wiley +1 more source
Skeletal Muscle Microbiopsies in Children and Adults—Tolerability, Sample Yield, and Analyzability
ABSTRACT Introduction/Aims Traditional methods of sampling skeletal muscle tissue are invasive. This study aimed to evaluate a sub‐millimeter core‐biopsy (microbiopsy) as a potentially more tolerable method, with further regard to tissue yield and analyzability of RNA expression.
Emil Rydell Högelin +9 more
wiley +1 more source
Parosteal Lipoma of the Thigh: A Report of a Rare Case and Review of the Literature. [PDF]
Shah KY +4 more
europepmc +1 more source
The Future of Urodynamics: Innovations, Challenges, and Possibilities
ABSTRACT Introduction Urodynamic studies (UDS) are essential for evaluating lower urinary tract function but are limited by patient discomfort, lack of standardization and diagnostic variability. Advances in technology aim to address these challenges and improve diagnostic accuracy and patient comfort.
Lauren E. Chew +4 more
wiley +1 more source
Pleomorphic hyalinizing angiectatic tumor of soft tissue in the distal thigh: A case report and literature review. [PDF]
Yan XF +5 more
europepmc +1 more source
A Clearer Picture: Using Fetal MRI to Diagnose Neck Masses and Predict Airway Compromise
ABSTRACT Introduction Fetal neck masses are rare but can be life‐threatening if causing airway compromise. Early and accurate diagnosis of these masses allows life‐saving interventions to be undertaken at birth in the form of the EXIT procedure. Methods A single institution case series of all patients referred for fetal MRI to a tertiary center in the ...
Louise Wilson +2 more
wiley +1 more source
Granular Parakeratosis in an HIV-Infected Patient Exposed to Benzalkonium Chloride: A Case Report. [PDF]
Ye L +6 more
europepmc +1 more source

