Results 191 to 200 of about 653,375 (291)

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara   +18 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann   +17 more
wiley   +1 more source

Trends in Dermatopolymyositis Mortality, 1999–2022: A Nationwide Population‐Based Study, United States

open access: yesArthritis Care &Research, EarlyView.
We report the national burden of dermatopolymyositis mortality over the past quarter century using the US national vital statistics data. Age‐standardized mortality rates for dermatopolymyositis decreased at an annual rate of 3.8% each year, which was higher than the annual percent decrease for deaths from all other causes.
Elizabeth Matz, Ram R. Singh
wiley   +1 more source

Lived and Care Experiences of Chronic Musculoskeletal Shoulder Pain in Australian Adults: A Qualitative Study

open access: yesArthritis Care &Research, EarlyView.
Objective Australian evidence on lived and care experiences of chronic musculoskeletal shoulder pain (CMSP), irrespective of disorder classification or disease, is limited. However, such evidence is important for person‐centered care and informing local service pathways and care guidelines or standards.
Sonia Ranelli   +8 more
wiley   +1 more source

Hydroxychloroquine Associated With Lower Glomerular Filtration Rate Decline in Lupus Nephritis

open access: yesArthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) protects kidney function in lupus nephritis (LN) by preventing flares, yet some cohort studies show no significant benefit in kidney function with HCQ. Clarifying these conflicting findings by showing early and long‐term benefits of HCQ on kidney function preservation is critical.
Shivani Garg   +9 more
wiley   +1 more source

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