Results 241 to 250 of about 10,813,555 (336)

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yesChem Sci
Won T   +7 more
europepmc   +1 more source

Study of number of particles crossing through a scintillation detector

open access: green, 2009
Mahmoud reza Oshagh   +4 more
openalex   +2 more sources

Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Vertex insertion approximates the crossing number of apex graphs

open access: yesEuropean journal of combinatorics (Print), 2012
Markus Chimani   +2 more
semanticscholar   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

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