Results 201 to 210 of about 5,517,155 (276)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Steady Vortex Sheets in Presence of Surface Tension. [PDF]

J Math Fluid Mech
Murgante F, Roulley E, Scrobogna S.
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

On differential equations and functional equations

Bank, Steven B., Kaufman, Robert P.
openaire   +1 more source

Seasonal Effect of a Small Hydropower Plant on Benthic Biofilm Microbial Community Structure and Predicted Functional Potential. [PDF]

Ecol Evol
Gao H, Khan S, Qi X, Lin Z, Liu G, Lv Y, Zhang M, Xia Z, Wu N.   +8 more
europepmc   +1 more source

Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl, Marika C. Möller, Lindsay Wilson, Anne Vik, Toril Skandsen, Jonas Stenberg, CENTER‐TBI participants and investigators   +6 more
wiley   +1 more source

Source-Prior Engineering for Bayesian Optical Sensing in Time-Reversed Young Interferometry. [PDF]

Sensors (Basel)
Wen J.
europepmc   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Fractional-order differential model for knee implant recovery in smart health infrastructures. [PDF]

Sci Rep
Chinebu TI, Okafor KC, Nwadinigwe CU, Nwigwe JO, Chidiebere DR, Peace OI, Longe OM, Anoh K.   +7 more
europepmc   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source