KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini+24 more
wiley +1 more source
A global urban road network self-adaptive simplification workflow from traffic to spatial representation. [PDF]
Zhao X, Xu J, Yang J, Duan J.
europepmc +1 more source
Approximating Spanning Trees with Low Crossing Number
Sariel Har-Peled
openalex +2 more sources
Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano+15 more
wiley +1 more source
Bayesian molecular optimization for accelerating reverse intersystem crossing. [PDF]
Won T+7 more
europepmc +1 more source
Study of number of particles crossing through a scintillation detector
Mahmoud reza Oshagh+4 more
openalex +2 more sources
Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma
ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao+4 more
wiley +1 more source
A centipede-inspired robot with passive terrain adaptation: optimized design and performance analysis. [PDF]
Zhang T+7 more
europepmc +1 more source
Vertex insertion approximates the crossing number of apex graphs
Markus Chimani+2 more
semanticscholar +1 more source
Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte+23 more
wiley +1 more source