Results 191 to 200 of about 13,221,289 (346)
Communicating laboratory test results for rheumatoid factor: what do patients and physicians want?
Patient Preference and Adherence, 2016 Ariella Kelman,1,2 Caroline O Robinson,1 Elisenda Cochin,3 Nina J Ahluwalia,1 Julia Braverman,3 Emil Chiauzzi,3 Kristina Simacek3 1Genentech, South San Francisco, CA, USA; 2Division of Immunology and Rheumatology, Stanford University Medical School ...
Kelman A +6 more
doaj
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu +5 more
wiley +1 more source
Prevalence of Stroke and Diagnostic Performance of Emergency MRI in Acute Isolated Dizziness
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Stroke is frequently misdiagnosed in patients presenting with acute isolated dizziness; the optimal imaging modality for this population remains debated. This study aimed to determine the prevalence of stroke among patients with isolated dizziness and to assess the diagnostic accuracy of magnetic resonance imaging (MRI) and computed ...
Xiao Hu +11 more
wiley +1 more source
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon +12 more
wiley +1 more source
The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The optimal treatment for neurosarcoidosis myelitis is uncertain. We characterize incident neurosarcoidosis myelitis and assess treatment response by MRI and clinical scales. Methods Incident probable or definite neurosarcoidosis myelitis in adults was retrospectively identified from 13 academic medical centers.
Giovanna S. Manzano +39 more
wiley +1 more source
Improving performance of clinical research : development and interest of electronic health records [PDF]
, 2015 Beresniak, Ariel +5 more
core +4 more sources
P1467Characteristics of early sacubitril/valsartan users in US electronic health record data [PDF]
, 2017 Jonathan Gagné +11 more
openalex +1 more source
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source