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
Through-the-scope twin clip for closure of gastric endoscopic full-thickness resection defects: a retrospective comparative study. [PDF]
Xia W +5 more
europepmc +1 more source
Efficacy of Fampridine on Refractory Optic Neuritis in Neuromyelitis Optica Spectrum Disorders
ABSTRACT Background Neuromyelitis optica spectrum disorders (NMOSD) usually occur with acute refractory optic neuritis (ON). However, there is a lack of efficacious treatments to improve recovery. Since fampridine has been found to improve the prognosis of multiple sclerosis (MS) and MS‐related ON, it is necessary to explore the efficacy of fampridine ...
Hongxuan Wang +9 more
wiley +1 more source
Unveiling Anisotropic in-Plane Thermal Conductivity and Thermal Expansion Coefficient in Low-Symmetry Few-Layer ReS<sub>2</sub>. [PDF]
Mandal M +9 more
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
A Rare Dual Atresia Case Report Introducing Gastric Distension-Assisted Esophageal Approximation (GDEA): A Hypothetical Novel Technique for Long-Gap Esophageal Atresia. [PDF]
Al-Taher R +3 more
europepmc +1 more source
Parkinson Disease Subtype Stability and Eventual Convergence
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok +10 more
wiley +1 more source
Simultaneous Implant Placement and Guided Bone Regeneration Using Freeze-Dried Bone Allograft and Amnion-Chorion Membrane for Post-traumatic Anterior Maxillary Bone Dehiscence: A Case Report. [PDF]
Pundir AJ +4 more
europepmc +1 more source

