Results 221 to 230 of about 1,709,491 (293)

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

A global molecular code for birth order and neuronal identity in Drosophila. [PDF]

Nature
Cachero S, Mitletton M, Beckett IR, Marin EC, Capdevila LS, Gkantia M, Soffers JHM, Lacin H, Jefferis GSXE, Donà E.   +9 more
europepmc   +1 more source

CSF Cytokine Network Organization Predicts Progression Independent of Relapse and MRI Activity in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progression independent of relapse activity is a major determinant of long‐term disability in multiple sclerosis, but its immunopathologic basis remains incompletely understood. We investigated whether relapse‐independent progression in radiologically stable relapsing–remitting multiple sclerosis is associated with distinct ...
Antonio Bruno, Matteo Conti, Ettore Dolcetti, Federica Azzolini, Angela Borrelli, Roberta Fantozzi, Mario Stampanoni Bassi, Giovanni Galifi, Giuseppe Maccarrone, Luca Montaguti, Marco Cervigni, Maddalena Dal Pozzo, Roberto Furlan, Annamaria Finardi, Girolama Alessandra Marfia, Marco Salvetti, Antonella Conte, Fabio Buttari, Diego Centonze, Luana Gilio   +19 more
wiley   +1 more source

A newly established reverse genetic system for a circular RNA virus reveals new requirements for infection and its biocontrol potential. [PDF]

Sci Adv
Guo Y, Forgia M, Serale N, Navarro B, Balmas V, Oufensou S, Migheli Q, Formiglia C, Daghino S, Prodi A, Schiwek S, Bono F, Miotti N, Turina M.   +13 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

Paired mutation calling and spatial transcriptomics identify cellular neighborhoods associated with the neoplastic outcome of mouse colitis. [PDF]

Nat Genet
Moutin EB, Chang LLH, Giavara G, Mehmed S, Colombé M, Boquetale C, Marks K, Lourenço FC, Skoufou-Papoutsaki N, Kemp R, Gascard P, Tlsty TD, Tourigny DS, Winton DJ.   +13 more
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Benchmarking immunoinformatic repertoire assemblies from bulk RNA-seq and PCR-based V(D)J sequencing using PCR-free SMRT RNA sequencing. [PDF]

iScience
Genebrier S, Serra Trinca SB, Dézé O, Cornic M, Pineau M, Tarte K, Cogné M.   +6 more
europepmc   +1 more source

Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu, Sophia F. Damman, Samhitha M. Rai, Hesham Abboud   +3 more
wiley   +1 more source

Epigenetic Rewiring and Context-Dependent Therapeutic Vulnerabilities in Myeloproliferative Neoplasms. [PDF]

Hematol Oncol
Abdelgawwad El-Sehrawy AAM, Al-Khreisat MJ, Kubaev A, Rajapov A, Ismael SH, Alhasso B, Kaur I, Bainsal N.   +7 more
europepmc   +1 more source