The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

Neuromuscul Disord

Centre Hospitalo-Universitaire de Montpellier, Direction de la Recherche et de l’Innovation, Hôpital La Colombière, 39 Avenue Charles Flahault, 34295, Montpellier, France.

Published: December 2015

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2015.10.010DOI Listing

Publication Analysis

Top Keywords

2016 version
4
version gene
4
gene table
4
table monogenic
4
monogenic neuromuscular
4
neuromuscular disorders
4
disorders nuclear
4
nuclear genome
4
0
1
gene
1

Similar Publications

: The Charlson Comorbidity Index (CCI) is designed for evaluating comorbidities and mortality risks, with the age-adjusted CCI (ACCI) combining age and comorbidity assessments. Despite its long-standing use, research on CCI's application in cardiac surgery patients is limited. This study assessed the effectiveness of CCI and ACCI in predicting in-hospital mortality and post-surgery outcomes for patients undergoing isolated coronary artery bypass grafting (CABG).

View Article and Find Full Text PDF

Background And Objectives: Lung cancer screening is critical for early detection and management, particularly through the use of computed tomography (CT). This study aims to compare the Lung Imaging Reporting and Data System (Lung-RADS) Version 2022 with the British Thoracic Society (BTS) guidelines in classifying solid pulmonary nodules detected at lung cancer screening CT examinations.

Materials And Methods: This retrospective study included 224 patients who underwent lung cancer screening CT between 2016 and 2022 and had a reported solid pulmonary nodule.

View Article and Find Full Text PDF

Research Tendency and Frontiers of Multifocal Lenses in Myopic Control in the Past Two Decades: A Bibliometric Analysis.

Healthcare (Basel)

January 2025

Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China.

This study aimed to analyze the research progress on the use of a multifocal lens for myopic control throughout the 21st century, utilizing bibliometric analysis. Publications related to multifocal lenses from 2001 to 2024 were searched on the Web of Science core collection (WoSCC) database. VOSviewer (Version 1.

View Article and Find Full Text PDF

Background: Antimicrobial resistance remains a worldwide health problem with serious societal and economical repercussions. Multidrug resistant and Extended-Spectrum β-Lactamase producing-Enterobacterales (ESBL-E) are pathogens of critical public health priority that urgently require the research and development of new drugs. This study aims to determine the prevalence and characterize the genes conferring resistance to β-lactams among Escherichia coli and Klebsiella pneumoniae isolated from patients with urinary tract infections (UTIs) in the West region, Cameroon.

View Article and Find Full Text PDF

Background: Frailty is a major health concern among older adults, and its association with oral health-related quality of life (OHRQoL) remains underexplored in longitudinal studies.

Objective: To investigate the association between baseline OHRQoL and physical frailty incidence at a 2-year follow-up in community-dwelling older adults.

Design: Prospective longitudinal study.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!