Results 181 to 190 of about 914,128 (308)
ABSTRACT Objective To identify metabolic patterns in the brain and musculoskeletal system of stiff person syndrome spectrum disorders (SPSD) patients over time using PET imaging and evaluate the impact of immune therapy on metabolic activity as a surrogate for treatment response.
Munther M. Queisi+4 more
wiley +1 more source
Mechanistic Insights into Molecular Oxygen Reactivity with Late Transition Metal-Hydride Bonds. [PDF]
Sorbelli D, Belpassi L, Belanzoni P.
europepmc +1 more source
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
TARNAS: A Software Tool for Abstracting and Translating RNA Secondary Structures. [PDF]
Quadrini M+3 more
europepmc +1 more source
On the consistency of Koomen's Fair Abstraction Rule [PDF]
J. C. M. Baeten+2 more
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
Validation of the Enhanced Recovery After Surgery (ERAS) database in Alberta, Canada and a comparative analysis with Swedish and Swiss data. [PDF]
Sauro K+6 more
europepmc +1 more source