TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia
Annals 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
A DAS-Based Multi-Sensor Fusion Framework for Feature Extraction and Quantitative Blockage Monitoring in Coal Gangue Slurry Pipelines. [PDF]
Sensors (Basel)Ma C, Chai J, Zhang D, Zhu L, Li Z.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Purpose Air pollution has been linked to several neurological conditions, including stroke and neurodegenerative diseases. Evidence regarding its association with multiple sclerosis (MS) remains conflicting, limited by small sample sizes. Methods PubMed, Embase, Scopus, and Cochrane controlled register of trials (CENTRAL) were searched on ...
Ahmad A. Toubasi, Thuraya N. Al‐Sayegh
wiley +1 more source
Comprehensive Evaluation of Mung Bean Germplasm Resources Based on DUS Test Characteristics. [PDF]
Plants (Basel)Feng L, Ma J, Yu J, Ren J, Jiao X.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Support for the coverage EMA: Participants can perceive and report discrete auditory event characteristics over 2 h in a simulated EMA scenario. [PDF]
Behav Res MethodsToledo MJL +3 more
europepmc +1 more source
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
A new scoring system for the prediction of mortality in Fournier's gangrene: The Eğin score. [PDF]
Ulus Travma Acil Cerrahi DergEğin S.
europepmc +1 more source