Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
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
Technological Competence Is a Pre-condition for Effective Implementation of Virtual Reality Head Mounted Displays in Human Neuroscience: A Technological Review and Meta-Analysis. [PDF]
Kourtesis P +3 more
europepmc +1 more source
PCGF1 Promotes the Tumorigenesis of Malignancies Through Upregulating CCDC34 in Glioma
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
Approaching human neuroscience for disease understanding. [PDF]
Tamminga CA.
europepmc +1 more source
A Two‐Stage Plasma Biomarker Algorithm Reduces Amyloid PET Use and the p‐Tau217 Gray Zone
ABSTRACT Objective Plasma p‐Tau217 leaves 30%–50% of patients in an indeterminate “gray zone” often requiring Aβ‐PET. We developed GRAD (Gatekeeper‐Reflex for Alzheimer's Disease), a two‐stage Aβ‐positivity prediction model to improve classification while reserving Aβ‐PET for residual uncertainty.
Harthik Parankusham +7 more
wiley +1 more source
The tip of the iceberg: A call to embrace anti-localizationism in human neuroscience research. [PDF]
Noble S +3 more
europepmc +1 more source
Robot-assisted surgery: an emerging platform for human neuroscience research. [PDF]
Jarc AM, Nisky I.
europepmc +1 more source
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
Editorial: 15 years of Frontiers in Human Neuroscience: risk factors and prevention in common disorders of the brain. [PDF]
Lam V, Corbo D.
europepmc +1 more source

