Results 201 to 210 of about 471,351 (368)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Monitoring of chlorophyll-a concentration in the ice edge zone of the Barents Sea in 2017-2018

, 2019
Veronika V. Vodopianova, Pavel S. Vashchenko, А. S. Bulavina   +2 more
openalex   +1 more source

Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan, Meeta Yadav, Sudeep Ghimire, Peter C. Lehman, Apurva J. Patel, Sydney Woods, Heena Olalde, Jemmie Hoang, Mishelle Paullus, Catherine Cherwin, Christine Gill, Tracey Cho, Ashutosh K. Mangalam   +12 more
wiley   +1 more source

Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer, Frauke Stascheit, Maximilian Mönch, Paolo Doksani, Carla Dusemund, Meret Herdick, Philipp Mergenthaler, Maike Stein, Amani Suboh, Jutta Schröder‐Braunstein, Guido Wabnitz, Jan D. Lünemann, Sophie Lehnerer, Sarah Hoffmann, Andreas Meisel   +14 more
wiley   +1 more source

Review of tc-2018-127: Version 2 of the EUMETSAT OSI SAF and ESA CCI Sea Ice Concentration Climate Data Records

, 2018
NULL AUTHOR_ID
openalex   +1 more source

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

Quantifying the effects of background concentrations of crude oil pollution on sea ice albedo [PDF]

, 2022
Benjamin Heikki Redmond Roche, Martin D. King   +1 more
openalex   +1 more source

RRP9 Promotes Esophageal Squamous Cell Carcinoma Progression through E2F1 Transcriptional Regulation of CDK1

Advanced Biology, EarlyView.
The study reveals that RRP9 is abnormally highly expressed in ESCC tissues and is closely associated with poor prognosis in patients. Furthermore, it is found that RRP9 promotes ESCC progression through enhancing the E2F1‐mediated transcriptional regulation of CDK1.
Gang He, Yilong Wan, Yanbo Zhu, Bo Peng, Shengxiang Shao, Xinyi Zou, Zhenyu Han, Jiaxi Li, Sheng Ju, Xin Tong, Jun Zhao, Hansi Liang, Liuqing Zhang, Jiashi Xiong, Dong Jiang   +14 more
wiley   +1 more source

Improved Simulation of Antarctic Sea Ice by Parameterized Thickness of New Ice in a Coupled Climate Model

Geophysical Research Letters
Sea ice formation over open water exerts critical control on polar atmosphere‐ocean‐ice interactions, but is only crudely represented in sea ice models. In this study, a collection depth parameterization of new ice for flux polynya models is modified by ...
Yongjie Fang, Junchen Yao, Tongwen Wu, Fanghua Wu, Jianglong Li   +4 more
doaj   +1 more source

Daily scale Prediction of Arctic Sea Ice Concentration Based on Recurrent Neural Network Models

, 2023
Juanjuan Feng, Jia Li, Wenjie Zhong, Junhui Wu, Zhiqiang Li, Lingshuai Kong, Lei Guo   +6 more
openalex   +2 more sources