Results 261 to 270 of about 42,684,660 (287)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez   +5 more
wiley   +1 more source

The Etiologic Role of Trimethylamine N-Oxide in Cardiometabolic Diseases in East Asians: A Genome-Wide Association and Mendelian Randomization Study

open access: gold
Chenxi Li   +8 more
openalex   +1 more source

PCGF1 Promotes the Tumorigenesis of Malignancies Through Upregulating CCDC34 in Glioma

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Polycomb group factor 1 (PCGF1) and coiled‐coil domain‐containing protein 34 (CCDC34) have been implicated in tumorigenesis in multiple malignancies. However, their biological functions and prognostic significance in glioma remain poorly defined.
Yuanbing Chen   +7 more
wiley   +1 more source

Multi-locus genome-wide association study reveals the genetic architecture of kernel fat content in maize

open access: gold
Jun Zong   +6 more
openalex   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

open access: yesArthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos   +2 more
wiley   +1 more source

Genome-wide association study of cocaine self-administration behavior in Heterogeneous Stock rats. [PDF]

open access: yesNat Commun
Lara MK   +42 more
europepmc   +1 more source

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