Results 211 to 220 of about 3,567,567 (271)

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

So much universe, and so little time. [PDF]

Br J Gen Pract
Papanikitas A.
europepmc   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

The Kidney-TIME Dose-Response Rests on a Covariate the Trial Cannot Pin Down. [PDF]

Clin Transplant
Aggarwal D, Saeed M, Sharma H.
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

Design of a Distance-Compensated Infrared Thermometer for Canopy Temperature Monitoring. [PDF]

Sensors (Basel)
Nguyen LHT, Chilukuri M, Delhom CD, Gowda P, Jung S, Park H.   +5 more
europepmc   +1 more source

Humanity, Nature, and Survival in Yann Martel's Life of Pi and Margaret Atwood's Oryx and Crake: An Ecocritical Comparative Study. [PDF]

F1000Res
Elhalafawy A, Abozied E, Adel MA, Al Mahamed AM, Khalifa S.   +4 more
europepmc   +1 more source

Arithmetic performance in children with typical and impaired literacy skills. [PDF]

Front Hum Neurosci
Laskay-Horváth C, Kemény F.
europepmc   +1 more source

War-related stress is associated with resting-state functional connectivity of cognitive control and sensory networks in children. [PDF]

Sci Rep
Roizman S, Farah R, Wenger N, Rootman MS, Tuval-Mashiach R, Horowitz-Kraus T.   +5 more
europepmc   +1 more source

Kinetic reading, a prosthetic effect on reading in subjects with left unilateral spatial neglect? A single-case experimental design pilot study. [PDF]

Eur J Phys Rehabil Med
Weill-Chounlamountry A, DE Bayser Montero E, Laporte C, Benvegnu F, Dehollain C, Migeot A, Pesci B, Bayen E, Villain M.   +8 more
europepmc   +1 more source