ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß +22 more
wiley +1 more source
Traditional method of rhubarb processing optimized by combining flavor analysis with anthraquinone content determination. [PDF]
Liu T, Yu M, Dai Y, Xiao Y, Li L.
europepmc +1 more source
Disentangling the Genetic Relationship Between Sleep and Epilepsy
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le +9 more
wiley +1 more source
Evaluating the Efficiency of <i>Areke</i> Distillation Process Using the Traditional Method of Distillation and Double Pipe Distillation: A Traditional Ethiopian Beverage. [PDF]
Fentahun M, Worku A.
europepmc +1 more source
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang +22 more
wiley +1 more source
Comparative analysis of machine learning versus traditional method for early detection of parental depression symptoms in the NICU. [PDF]
Sadjadpour F +3 more
europepmc +1 more source
Four‐Year Cognitive Outcomes in Multiple Sclerosis: Associations With Lesion Myelin Integrity
ABSTRACT Objectives Cognitive impairment is prevalent in patients with multiple sclerosis (MS) but whether lesion myelin integrity influences future cognitive outcomes remains unclear. We investigated the relationship between baseline lesion myelin water fraction (MWF) and cognitive performance 4 years later.
Iliana Pliska‐Bloch +9 more
wiley +1 more source
Chemical composition and antioxidant activity of Polygonatum kingianum processed by the traditional method of "Nine Cycles of Steaming and Sun-Drying". [PDF]
Guan Y +13 more
europepmc +1 more source

