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
Scattering from a finite-length closed perfect electric conducting circular cylinder: a regularized full-wave analysis. [PDF]
Schettino F, Di Murro F, Lucido M.
europepmc +1 more source
The Association of Amyloid‐β and Tau With Synaptic Dysfunction in Alzheimer's Disease
ABSTRACT Objective To clarify the relative contributions of amyloid and tau to synaptic dysfunction in Alzheimer's disease (AD). Methods We included 109 cognitively unimpaired and impaired individuals from the Geneva Memory Center with available CSF synaptic biomarkers (neurogranin, SNAP‐25, GAP‐43). Participants were stratified according to amyloid (A)
Fausto Roveta +11 more
wiley +1 more source
Resolving the inner <i>versus</i> outer component of the 5f radial wavefunction in the early actinides. [PDF]
Alcock NM +7 more
europepmc +1 more source
Disentangling the Genetic Relationship Between Sleep and Epilepsy
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le +9 more
wiley +1 more source
A Random Field Theory of Electromagnetic Information. [PDF]
Mikki S.
europepmc +1 more source
Acute Endocrine Alterations After Traumatic Brain Injury and 6‐Month Functional Outcome
ABSTRACT Objective Acute multi‐axis endocrine alterations after traumatic brain injury (TBI) remain incompletely characterized. This study aimed to examine their temporal patterns and explore their associations with 6‐month functional outcome and early inflammatory markers.
Biao Xu +9 more
wiley +1 more source
Laplace transform-based BEM for unsteady heat conduction in space-time anisotropic functionally graded materials with heat source. [PDF]
Ayitaged DW +3 more
europepmc +1 more source
Discordance Between Patient and Physician Global Assessments in Early Systemic Sclerosis
Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included.
Ellen Romich +35 more
wiley +1 more source
Inferring dynamic information from protein structures by Gaussian integrals and deep learning. [PDF]
Vilicich F +4 more
europepmc +1 more source

