Results 141 to 150 of about 20,382 (215)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Caregiver childhood abuse and neglect and children's cognitive and social-emotional development: The role of parenting practices. [PDF]

SSM Popul Health
Song Q, Gong H, Liu M, Qiao N, Yue A, Shi Y.   +5 more
europepmc   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source

Sustained resilience as a unifying property of cities and the built environment. [PDF]

NPJ Urban Sustain
Mitoulis SA, Kopiika N, Di Bari R, Argyroudis S.   +3 more
europepmc   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

VOC·BIO Library: An Integrated Platform for Published Aphid GC-MS Evidence, Biological Contexts, Cheminformatics and Exploratory OBP Docking. [PDF]

Insects
Alsufyani T, Hussain T, Alotaibi NJ.
europepmc   +1 more source

PCGF1 Promotes the Tumorigenesis of Malignancies Through Upregulating CCDC34 in Glioma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Polycomb group factor 1 (PCGF1) and coiled‐coil domain‐containing protein 34 (CCDC34) have been implicated in tumorigenesis in multiple malignancies. However, their biological functions and prognostic significance in glioma remain poorly defined.
Yuanbing Chen, Jianbing Xiong, Ziran Ou, Tianhao Zhao, Hui Li, Jun Huang, Zhi Tian, Wuyang Cao   +7 more
wiley   +1 more source

NanoSaurus: addressing the urgent need for open access in single-domain antibody research. [PDF]

MAbs
Di Filippo P, Pardon E, Owens RJ, Schmidt FI, Durinx C, Rothbauer U, Ploegh H, Seeger MA, Muyldermans S, Vranken W, Steyaert J.   +10 more
europepmc   +1 more source

A Two‐Stage Plasma Biomarker Algorithm Reduces Amyloid PET Use and the p‐Tau217 Gray Zone

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐Tau217 leaves 30%–50% of patients in an indeterminate “gray zone” often requiring Aβ‐PET. We developed GRAD (Gatekeeper‐Reflex for Alzheimer's Disease), a two‐stage Aβ‐positivity prediction model to improve classification while reserving Aβ‐PET for residual uncertainty.
Harthik Parankusham, Casey Vanderlip, Colin Birkenbihl, Eashwar Krishna, Chizobam Ugboaja, Andrew E. Budson, Brandon Frank, for the Alzheimer's Disease Neuroimaging Initiative   +7 more
wiley   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source