Results 251 to 260 of about 623,308 (344)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda   +12 more
wiley   +1 more source

Progress and prospects in metabolic engineering approaches for isoprenoid biosynthesis in microalgae. [PDF]

open access: yesBiotechnol Biofuels Bioprod
Mohamadnia S   +3 more
europepmc   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara   +18 more
wiley   +1 more source

Astaxanthin Overproduction Enhanced by Metabolomics-Guided Rational Metabolic Engineering in <i>Synechococcus</i> sp. PCC 7002. [PDF]

open access: yesACS Synth Biol
Ida K   +8 more
europepmc   +1 more source

Global and Regional Temporal Changes in Cross‐Country Inequalities of Site‐Specific Osteoarthritis Burden, 1990 to 2021

open access: yesArthritis Care &Research, EarlyView.
Objective This study examined the global and regional temporal changes in cross‐country inequalities of site‐specific osteoarthritis (OA) burden from 1990 to 2021. Methods Age‐standardized years lived with disability rates (ASYRs) for site‐specific OA across 204 countries and territories were obtained from the Global Burden of Diseases, Injuries, and ...
Haowei Chen   +14 more
wiley   +1 more source

Improvements in Health‐Related Quality of Life With Treat‐to‐Target Urate‐Lowering Therapy in Gout: A Post Hoc Analysis of a Randomized Multicenter Trial

open access: yesArthritis Care &Research, EarlyView.
Objective Although treat‐to‐target urate‐lowering therapy (ULT) is endorsed as best practice in gout management, limited data exist on its impact on health‐related quality of life (HRQoL). We assessed the impact of treat‐to‐target ULT on HRQoL among participants receiving protocolized gout care, identifying factors associated with HRQoL and HRQoL ...
Austin Barry   +16 more
wiley   +1 more source

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