Results 151 to 160 of about 106,077 (229)

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher   +6 more
wiley   +1 more source

<i>LongHealth</i>: A Question Answering Benchmark with Long Clinical Documents. [PDF]

open access: yesJ Healthc Inform Res
Adams L   +9 more
europepmc   +1 more source

Determinants of Medication Adherence to Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis and Allergic Rhinitis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
Key Points Objective adherence to budesonide nasal irrigation was low and declined over time. Higher sinus discomfort (visual analog scale) predicted better adherence, but SNOT‐22 did not. Patients planning surgery or with some comorbidities had lower adherence.
Clifford Jiajun He   +7 more
wiley   +1 more source

A potential strategy for improving offspring behavior in maternal immune activation: Amantadine‐mediated suppression of neuroinflammation

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Amantadine (AMA) regulates neurocyte apoptosis and inhibits neurocyte inflammation to prevent maternal immune activation (MIA) from affecting offspring behavior. Abstract Background Maternal viral infection during pregnancy can lead to maternal immune activation (MIA), increasing the risk of neurodevelopmental disorders in offspring.
Jianfei Wu   +8 more
wiley   +1 more source

Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study

open access: yesAnnals of Neurology, EarlyView.
Objective The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16‐related dystonia. Methods This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT‐VPS16 ...
Tatiana Svorenova   +46 more
wiley   +1 more source

Subthalamic Electrophysiological Mapping of Gait Initiation Dynamics and Freezing in Parkinson's Disease

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to investigate the relationships among subthalamic nucleus (STN) activity, gait initiation (GI), and freezing of gait (FOG) in patients with Parkinson's disease (PD). Methods We recorded GI and STN local field potentials (LFPs) via externalized cables in 38 patients with PD (35 reporting FOG in daily life ...
Antoine Collomb‐Clerc   +12 more
wiley   +1 more source

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