Results 191 to 200 of about 407,487 (268)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

Cerebral Amyloid Angiopathy Is Associated With Higher R2 Relaxation Rate: An MRI and Pathology Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebral amyloid angiopathy (CAA) involves β‐amyloid deposition in the walls of cortical and leptomeningeal small vessels. Transverse relaxation rate (R2) is a major source of contrast in MRI. This study tested the hypothesis that CAA is associated with R2, extracted the spatial pattern of CAA‐related R2 abnormalities, and evaluated ...
Md Tahmid Yasar   +6 more
wiley   +1 more source

Threshold Values of Sleep Spindles Features in Healthy Adults Using Scalp‐EEG and Associations With Sleep Parameters

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sleep spindles are an electrophysiological fingerprint of the sleeping human brain. They can be described in terms of duration, frequency, amplitude, and density, and vary widely according to age and sex. Spindles play a role in sleep and wake functions and are altered in several neurological and psychiatric disorders.
Julien Coelho   +8 more
wiley   +1 more source

Validity and internal consistency of the French version of the revised Skin Management Needs Assessment Checklist in people with spinal cord injury [PDF]

open access: bronze, 2018
Anthony Gélis   +9 more
openalex   +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

Relationship Between Gout Flare States and Patient‐Reported Outcomes After Allopurinol Initiation

open access: yesArthritis Care &Research, EarlyView.
Objective Gout flares are the most important clinical feature of the disease. A hypothetical maximum flare occurrence in the preceding six months has been suggested to be no flares for a patient‐acceptable symptom state (PASS) and only one flare for low disease activity (LDA).
Lisa K. Stamp   +6 more
wiley   +1 more source

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