Results 241 to 250 of about 1,337,805 (372)

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open access: yesACM Transactions on Graphics, 2016
Robert Anderson   +7 more
semanticscholar   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

Effects of a Short-Term Ballistic Training Program on Performance and Strength Deficit in Elite Youth Female Soccer Players. [PDF]

open access: yesSports (Basel)
Loturco I   +6 more
europepmc   +1 more source

Optimal estimation for discrete time jump processes [PDF]

open access: green, 1978
María Coronado Vaca, Steven A. Tretter
openalex   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang   +7 more
wiley   +1 more source

Force-velocity profile based training to improve vertical jump performance a systematic review and meta analysis. [PDF]

open access: yesSci Rep
Solberg P   +6 more
europepmc   +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

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