Results 211 to 220 of about 8,638,029 (373)

Exploring if Longitudinal Changes on PET Imaging Can Serve as a Biomarker for Stiff Person Syndrome Spectrum Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Classes of finite relations as initial abstract data types I

open access: bronze, 1991
Virgil-Emil Căzănescu   +1 more
openalex   +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

Criteria for establishing a centre of excellence in oncology: a scoping review. [PDF]

open access: yesBMC Health Serv Res
Swart RR   +5 more
europepmc   +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

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