Results 101 to 110 of about 2,421,984 (303)

Pulmonary Involvement in Neuromuscular Diseases: A review

, 2023
Neuromuscular diseases (NMDs) affect muscle function directly or indirectly by affecting nerves or neuromuscular junctions. One of the leading causes of death in patients with NMD is respiratory muscleweakness (RMW).
Sadr, Saeed, Karim Zadeh, Parvaneh, Tabatabaii, Seyed Ahmad, taghizadeh behbahani, Abdolhamid, pourghasem, Matin, Khanbabaee, Ghamartaj, Nasehi, Mohammad Mahdi, Modarresi, Seyedeh Zalfa, Khazaii, Fatemeh, Soflaee, Maedeh, Fadavi, Nafiseh, Pourghasem, Mahsa, Alaei, Fariba, Farahbakhsh, Nazanin   +13 more
core   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

Sonographic Characterization of Immune‐Mediated Peripheral Neuropathy

Clinical Neuroimaging
Background and Purpose Whether neuromuscular ultrasound (NMUS) can help differentiate between different types of immune‐mediated neuropathy remains unclear.
Mohamed Khateb, Monica Alcantara, Rodrigo Martinez‐Harms, Lubna Daniyal, Maria Andrea Morelos‐Andrade, Hamid Sadeghian, Vera Bril, Hans Katzberg   +7 more
doaj   +1 more source

Niche‐Mediated Neural Priming Enables Robust and Scalable Generation of Human Choroid Plexus Organoids

Advanced Science, EarlyView.
Compared to E8, mTeSR1 culture downregulated WNT and TGF‑β signaling, and upregulated neural differentiation pathways, enhancing neural priming. Under skin organoid induction conditions, mTeSR1‑cultured hESCs generated organoids with significantly higher neuroepithelial differentiation.
Zhongliang Chen, Liangxia Jiang, Xianbin Wang, Lili Zhong, Rongcan Luo, Min Su, Liangzhao Chu, Peng Luo   +7 more
wiley   +1 more source

Heart abnormalities in children with neuromuscular diseases [PDF]

, 2010
Neuromuscular diseases are a large group of diseases that are characterized by defective functions of peripheral nervous system, neuromuscular junction and/or muscle.
Vojinovic, Dina, Savija, Jelena, Kovacevic, Milena   +2 more
core   +1 more source

The importance of early diagnosis and treatment in treatable neuromuscular diseases

, 2018
Neuromuscular diseases represent a heterogeneous group of disorders involving peripheral nerves, neuromuscular junction (NMJ) and skeletal muscle. The most common symptoms are muscular weakness and amyotrophy in different body parts to varying degrees ...
Cheng ZHANG, Yu-ling ZHU
core   +1 more source

Single‐Nucleus Atlas of Spinal Sarcopenia Patients Reveals Disruption of Quiescent and Regenerative Satellite Cell Niches in Fatty‐Infiltrated Muscle

Advanced Science, EarlyView.
Mechanisms of Fatty Infiltration and Muscle Degeneration. Clinical metadata identified intramuscular fat accumulation as an independent driver of muscle mass decline. Single‐nucleus RNA sequencing of spinal sarcopenia muscle revealed adipogenic reprogramming of fibro‐adipogenic progenitors, satellite‐cell niche disruption, and elevated levels of the ...
Wenkai Wu, Renxian Wang, Dingding Wang, Quanzhong Ren, Ling Wang, Fangfang Duan, Guihe Yang, Ruixuan Yu, Yi Wang, Yingyu Zhang, Zetong Zang, Chuqi Li, Weijia Liu, Wenshuang Zhang, Yi Yuan, Zitong Cheng, Xiaoguang Cheng, Junbo Liang, Yajun Liu   +18 more
wiley   +1 more source

PLXDC2 siRNA‐Mediated Intervention Attenuates Microglial Senescence Through cGAS‐STING Signaling

Advanced Science, EarlyView.
PLXDC2 was identified as a microglial target in Parkinson's disease through human and mouse single‐cell analyses. Ferritin‐armed biomimetic nanovesicles delivered PLXDC2 siRNA, deferoxamine, and CeO2 nanoparticles across the blood–brain barrier, reducing cGAS‐STING activation, iron burden, oxidative stress, and senescence in microglia, thereby ...
Heyue Lu, Zitian Zheng, Feiran Wang, Huanhuan Luo, Fei Ju, Yucheng Zhu, Zheng Zhou, Jie Sun, Zhenghui Qiu, Xiang Luo, Zhongzheng Jia, Jianquan Wang, Hongjie Huang, Bo Zhang   +13 more
wiley   +1 more source

DeepLNM: A Multimodal Model for Predicting Lymph Node Metastasis in Colorectal Cancer

Advanced Science, EarlyView.
Traditional diagnosis may miss positive LNM cases, and pathologists face a workload; therefore, we develop DeepLNM, a multimodal model that predicts lymph node metastasis in colorectal cancer from H&E WSIs, CT images, and text. DeepLNM is robust across internal, external, and prospective cohorts and, in a user study, improves diagnostic accuracy while ...
Zhengyu Zhang, Chengyu Lu, Zhen Wang, Zhijian Cen, Yangshu Zhou, Danyi Li, Qi Xie, Bingbing Li, Shujing Guo, Zhijun Gan, Er‐ran Zhu, Jinbang Li, Aihetaimu Aimaier, Rui Mao, Weihao Qiu, Chenglong Zhao, Ying Tan, Xiaolin Liu, Huiting Ma, Tiansu Geng, Peiyue Wu, Huijun Du, Yu Wang, Yueping Liu, Li Liang   +24 more
wiley   +1 more source

Retinal Dystrophies Associated with Mutations in the RP1 Gene: Genotype–Phenotype Correlations

Current Issues in Molecular Biology
Background: We evaluated the genetic and phenotypic features of a cohort of 10 Italian patients affected by Retinitis Pigmentosa (RP) associated with RP1 sequence variants.
Vito Spagnuolo, Marco Piergentili, Ilaria Passerini, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Martina Maccari, Elisabetta Pelo, Ilaria Biagini, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi   +11 more
doaj   +1 more source