Results 241 to 250 of about 1,337,805 (372)
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
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]
Loturco I+6 more
europepmc +1 more source
Optimal estimation for discrete time jump processes [PDF]
María Coronado Vaca, Steven A. Tretter
openalex +1 more source
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
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]
Solberg P+6 more
europepmc +1 more source
Closure to “Effects of Inflow Condition on Hydraulic Jump” [PDF]
Hans J. Leutheusser+1 more
openalex +1 more source
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
The effects of 12 weeks of high-intensity interval rope skipping training on speed and power indexes in male soccer players. [PDF]
Wei B, Cheng W, Qiu J.
europepmc +1 more source