Results 201 to 210 of about 6,298,979 (361)

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

LSTM-assisted optical fiber interferometric sensing: breaking the limitation of free spectral range. [PDF]

Light Sci Appl
Hu J, Zhang S, Cai M, Ma M, Li S, Chen H, Yang S.   +6 more
europepmc   +1 more source

Spectrum and Energy Efficiency in Massive MIMO Enabled HetNets: A Stochastic Geometry Approach

, 2015
Anqi He, Lifeng Wang, Maged Elkashlan, Yue Chen, Kai‐Kit Wong   +4 more
openalex   +1 more source

Determination of the Cell Permissiveness Spectrum, Mode of RNA Replication, and RNA-Protein Interaction of Zika Virus [PDF]

, 2017
Wangheng Hou, Najealicka Armstrong, Lilian Akello Obwolo, Michael A. Thomas, Xiaowu Pang, Kevin S. Jones, Qiyi Tang   +6 more
openalex   +1 more source

Characterizing Olfactory Function in Children with Autism Spectrum Disorder and Children with Sensory Processing Dysfunction [PDF]

, 2020
Julia Sweigert, Tanya St. John, K. Kawena Begay, Greg E. Davis, Jeffrey Munson, Eric G. Shankland, Annette Estes, Stephen R. Dager, Natalia M. Kleinhans   +8 more
openalex   +1 more source

Multi‐Omics Integration for Advancing Glioma Precision Medicine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia, Valentina La Cognata, Giulia Gentile, Giovanna Morello, Sebastiano Cavallaro   +4 more
wiley   +1 more source

Revealing the topological nature of entangled orbital angular momentum states of light. [PDF]

Nat Commun
de Mello Koch R, Ornelas P, Gounden N, Lu BQ, Nape I, Forbes A.   +5 more
europepmc   +1 more source

An Autuethonnographic Exercise:Deep-thinking, Art, and Contemplation in Socio-Cultural Anthropology* [PDF]

, 2019
Peshkova, Pr. Svetlana
core   +2 more sources

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations [PDF]

, 2019
Joel Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth Berger, Katelyn Payne, Diane Masser‐Frye, Tommy Hu, Michelle R. Christie, Nancy J. Clegg, Joshua L. Everson, Ariel F. Martinez, Laurence E. Walsh, Emma Bedoukian, Marilyn C. Jones, Catharine Harris, Korbinian M. Riedhammer, Daniela Choukair, Patricia Y. Fechner, Meilan M. Rutter, Sophia B. Hufnagel, Maian Roifman, Gad B. Kletter, Emmanuèle C. Délot, Éric Vilain, Robert J. Lipinski, Chad M. Vezina, Maximilian Muenke, David Chitayat   +29 more
openalex   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo, Deyou Peng, Zhouao Zhang, Mingjin Yang, Xinyan Guo, Tianyu Ma, Xiaoyu Huang, Mingming Xu, Linlin Fu, Yong Zhang   +9 more
wiley   +1 more source