Results 321 to 330 of about 6,178,117 (397)

LINC00323 variant is associated with increased risk of essential tremor

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan   +11 more
wiley   +1 more source

An ultra-short-period super-Earth with an extremely high density and an outer companion. [PDF]

open access: yesSci Rep
Livingston JH   +20 more
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

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

Using JADES NIRCam photometry to investigate the dependence of stellar mass inferences on the IMF in the early universe. [PDF]

open access: yesProc Natl Acad Sci U S A
Woodrum C   +19 more
europepmc   +1 more source

Young and Intermediate Stellar population in Seyfert 2 galaxies

open access: green, 2000
R. M. González Delgado   +2 more
openalex   +2 more sources

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