Results 311 to 320 of about 23,949,715 (384)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Quantum coherence in three-level systems under the combined effect of stark effect and non-linear Kerr medium. [PDF]

Sci Rep
Anwar SJ, Ibrahim M, Khan MK, Abdel-Khalek S, S Alqannas H, Wahiddin MR.   +5 more
europepmc   +1 more source

Superposed Atomic Representation for Robust High-Dimensional Data Recovery of Multiple Low-Dimensional Structures

Yulong Wang
openalex   +2 more sources

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

PhaseT3M: 3D imaging at 1.6 Å resolution via electron cryo-tomography with nonlinear phase retrieval. [PDF]

Nat Commun
Lee J, Song SW, Cho MG, Varnavides G, Ribet SM, Ophus C, Scott MC, Whittaker ML.   +7 more
europepmc   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Layer-dependent Raman polarization anisotropy in MoS₂ films grown by 200 mm-scale atomic layer deposition. [PDF]

Sci Rep
Smiri B, Meyer T, LE VH, Cadot S, Gauthier N, Jamil R, Mazel Y, Deschanvres JL, Pelissier B, Nolot E.   +9 more
europepmc   +1 more source

An analysis of the thermal monitoring data collected at the Peach Bottom Atomic Power Station

, 1977
Alan J. Witten, Drew Gray
openalex   +1 more source

Science News: Atomic Level Data Storage

Science Progress, 2016
openaire   +2 more sources