Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Endoscopic-Assisted Excision of Frontal Bone Osteomas: A Case Series Study of Technical Considerations and Complications from a Single Surgeon. [PDF]
Odoom G +4 more
europepmc +1 more source
Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif +17 more
wiley +1 more source
Long-term inactivation mediated by different FGF-A homologues on heterologously expressed NaV1.2 currents. [PDF]
Lorenzo-Ceballos Y +3 more
europepmc +1 more source
Natural Frequencies of Levodopa‐Induced Dyskinesia in Parkinson's Disease
ABSTRACT Objectives Abnormal involuntary movements, known as dyskinesias, are common complications of levodopa treatment in patients with Parkinson's disease and can significantly impair quality of life. The underlying pathophysiology remains unclear, and current therapeutic options are limited.
Ioannis U. Isaias +3 more
wiley +1 more source
The Novel TRPV1 Agonist ST-6631 Improves Swallowing Function in Rat Models of Stroke-Related Dysphagia and Demonstrates Pharmaceutical Advantage Over Capsaicin, by Exhibiting Minimal Pungent and Irritant Properties. [PDF]
Miyauchi M +7 more
europepmc +1 more source
Global Rather Than Vertical‐Selective Saccadic Abnormalities in Progressive Supranuclear Palsy
ABSTRACT Objective To test whether vertical saccades are preferentially affected in Progressive Supranuclear Palsy (PSP). Methods PSP patients (n = 24) were compared to age‐matched controls (n = 94) and two degenerative groups (Alzheimer's disease, n = 20; Lewy body disease, n = 50).
Duy Duan Nguyen +6 more
wiley +1 more source
Slow Diaphragmatic Breathing for Chronic Migraine Prevention and Treatment: A Case Report. [PDF]
Bentley TGK +2 more
europepmc +1 more source
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source
Brachial Plexus Schwannoma With Neural Foraminal Extension. [PDF]
Abebe MW +3 more
europepmc +1 more source

