Results 111 to 120 of about 11,091 (308)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas   +18 more
wiley   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun   +95 more
wiley   +1 more source

Proportion of Acceptable Symptom State Nearly Tripled With Improvements in Patient‐Reported Outcomes for All Symptom State Subgroups: A Registry Study of More Than 15,000 Patients With Osteoarthritis in Digital Education and Exercise Therapy

open access: yesArthritis Care &Research, EarlyView.
Objective This study investigated trajectories of patient acceptable symptom state (PASS) among participants of digital education and exercise therapy for knee and hip osteoarthritis. Methods A longitudinal observational study among individuals aged at least 40 years who participated in the digital program.
Ali Kiadaliri   +3 more
wiley   +1 more source

Lived and care experiences of chronic musculoskeletal shoulder pain in Australian adults: A qualitative study

open access: yesArthritis Care &Research, Accepted Article.
Objectives 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‐centred care and informing local service pathways and care guidelines or standards.
Sonia Ranelli   +8 more
wiley   +1 more source

Global and regional temporal changes in cross‐country inequalities of site‐specific osteoarthritis burden, 1990–2021

open access: yesArthritis Care &Research, Accepted Article.
Objective This study examined the global and regional temporal changes in cross‐country inequalities of site‐specific osteoarthritis (OA) burden from 1990 to 2021. Methods Age‐standardized years lived with disability rate for site‐specific OA across 204 countries/territories were obtained from the Global Burden of Diseases Study (GBD) 2021.
Haowei Chen   +14 more
wiley   +1 more source

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