Results 121 to 130 of about 371,509 (298)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Digital Curation and the Citizen Archivist [PDF]
, 2009 The increasing array and power of personal digital recordkeeping systems promises both to make it more difficult for established archives to acquire personal and family archives and less likely that individuals might wish to donate personal and family ...
Cox, Richard J
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SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective To evaluate the efficacy and safety of baricitinib in pediatric patients with active juvenile idiopathic arthritis–associated uveitis (JIA‐U) or chronic anterior antinuclear antibody–positive uveitis, who had an inadequate response to methotrexate (MTX) or biologic disease‐modifying antirheumatic drugs (bDMARDs).
Athimalaipet V. Ramanan +7 more
wiley +1 more source
Introduction To Film And Media Studies (FMST 01) Syllabus [PDF]
, 2016 Introduction To Film And Media Studies course description: The invention of cinema at the end of the 19th century and the rapid developments of digital technologies most noticeable in our increased use of social networking tools on mini-screens mark a ...
Simon, Sunka
core +2 more sources
Arthritis Care &Research, EarlyView.Objective The objectives of this study were to evaluate the correlation and agreement between ultrasonography and computed tomography (CT) in measuring ascending aorta diameter in patients with giant cell arteritis (GCA) and to investigate the development of new ascending aortic aneurysms in patients with newly diagnosed GCA.
Anne C. Bull Haaversen +4 more
wiley +1 more source
Pengembangan Film Dokumenter sebagai Media Pembelajaran Submateri Gangguan Sistem Ekskresi Kelas XI SMA [PDF]
, 2017 The goal of this research is to know the eligibility of documentary film as learning media in the sub-material of excretory system disorders on third grade senior high school.
Ekawati, I. (Iin)
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Arthritis Care &Research, EarlyView.Objective This systematic review aimed to assess the diagnostic accuracy of algorithms used to identify rheumatoid arthritis and juvenile idiopathic arthritis in electronic health records. Methods We searched Medline, Embase, and Cochrane Central Register for Controlled Trials databases and included studies that validated case definitions against a ...
Constanza Saka‐Herrán +10 more
wiley +1 more source
Feasibility of a documentary film on human reproductive system
BiosferThe continuous advancement of technology in the era of globalization has an inevitable impact on the educational sector, particularly in the learning process. The use of media is one of the critical components in this process.
Rezkiana Nurfadillah +2 more
doaj +1 more source