Results 211 to 220 of about 5,686,377 (385)

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

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando   +13 more
wiley   +1 more source

Deep, Broadband Spectral Line Surveys of Molecule-rich Interstellar Clouds

open access: yes, 2017
S. W. Widicus Weaver   +11 more
semanticscholar   +1 more source

Where, how, and how much? A multicenter cohort study of the relationship between lupus decision aid modality, place of administration, interruption and viewing completeness and patient‐reported outcomes

open access: yesArthritis Care &Research, Accepted Article.
Objective We assessed whether shared decision‐making (SDM), and patient acceptability, feasibility, and overall satisfaction with a computerized patient decision aid (PtDA) for patients with systemic lupus erythematosus (SLE), differs by PtDA setting, modality, and the viewing experience.
Jasvinder A. Singh   +3 more
wiley   +1 more source

Hip morphology‐based osteoarthritis risk prediction models: development and external validation using individual participant data from the World COACH Consortium

open access: yesArthritis Care &Research, Accepted Article.
Objectives This study aims to develop hip morphology‐based radiographic hip osteoarthritis (RHOA) risk prediction models and investigates the added predictive value of hip morphology measurements and the generalizability to different populations. Methods We combined data from nine prospective cohort studies participating in the World COACH consortium ...
Myrthe A. van den Berg   +26 more
wiley   +1 more source

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