Results 191 to 200 of about 6,718,270 (416)

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng   +6 more
wiley   +1 more source

Wind speed statistics for Goldstone, California, anemometer sites [PDF]

open access: yes
An exploratory wind survey at an antenna complex was summarized statistically for application to future windmill designs. Data were collected at six locations from a total of 10 anemometers.
Berg, M.   +3 more
core   +1 more source

The Impact of In‐Hospital Disease Modifying Treatments on Mental and Physical Burden in Caregiver of Patients With MS

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with multiple sclerosis (pwMS) may require a high level of daily assistance both for indoor and outdoor activities. Usually, relatives or friends provide daily support to MS patients who have lost personal autonomy. Several factors such as disability level and disease duration may affect the burden of care in caregivers of ...
Giuseppe Schirò   +9 more
wiley   +1 more source

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury. Despite a diverse array of genetic drivers, many NMDs share similar patterns of exercise intolerance and higher concentrations of muscle injury proteins ...
Mads G. Stemmerik   +5 more
wiley   +1 more source

Estimating Budget Impact and Joint Replacement Avoidance by Implementing a Standardized Education and Exercise Therapy Program for Hip and Knee Osteoarthritis in a Publicly Insured Health Care System

open access: yesArthritis Care &Research, EarlyView.
Objective The study objective was to estimate the budget impact of funding a standardized education and exercise therapy program, Good Life with osteoArthritis in Denmark (GLA:D) for people with hip and knee osteoarthritis (OA) waiting for total joint replacement (TJR) consultation in a universal publicly insured health care system in Canada.
Darren R. Mazzei   +4 more
wiley   +1 more source

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