Results 231 to 240 of about 7,550,048 (276)

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

Differentiability and other properties of the cosmological volume function. [PDF]

Lett Math Phys
García-Heveling L.
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

On Point Spectrum of Jacobi Matrices Generated by Iterations of Quadratic Polynomials. [PDF]

Commun Math Phys
Eichinger B, Lukić M, Yuditskii P.
europepmc   +1 more source

The Enigma of Big Tau Exon 4a: Genomic Architecture, Biophysical Identity, and Unique Evolutionary Mechanisms. [PDF]

Biomolecules
Fischer I.
europepmc   +1 more source

Mean Consistency of Estimators in a Partially Linear Model with AANA Errors. [PDF]

Entropy (Basel)
Zhang Y, Chen Z.
europepmc   +1 more source

The isolated Stachel peptide of the adhesion G protein-coupled receptor ADGRG6 is predominantly disordered with local helical propensity. [PDF]

Biophys J
Shriver TJ, Berndt S, Robson SA, Dixon AD, Liebscher I, Ziarek JJ.   +5 more
europepmc   +1 more source

High-Contrast Random Composites: Homogenisation Framework and Spectral Convergence. [PDF]

Commun Math Phys
Cherdantsev M, Cherednichenko K, Velčić I.   +2 more
europepmc   +1 more source