Results 131 to 140 of about 198,800 (341)

The genes for two neuromuscular diseases of the mouse, ‘arrested development of righting response’, adr, and ‘myotonia’, mto, are allelic [PDF]

, 1988
Harald Jockusch, Kordula Bertram, Susanne Schenk   +2 more
openalex   +1 more source

Pharmacological Microglial Inhibition Remodels the Scar Microenvironment to Support Reticulospinal Circuit Reconstruction After Spinal Cord Injury

Advanced Science, EarlyView.
This study establishes pharmacological microglial inhibition as a therapeutic strategy, demonstrating its capacity to remodel the lesion microenvironment through significant reduction of extracellular matrix deposition. This permissive environmental transformation facilitates robust regeneration of the reticulospinal tract, and reconstructs functional ...
Run Li, Hongyuan Xing, Yifan Shen, Meng Chen, Bowen Lyu, Xiaofeng Yang, Li Sun, Chao Jiang, Jianyu Lv, Xin Ding, Zhongyang Gao, Yue Wang   +11 more
wiley   +1 more source

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

Advanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Haiying Zhou, Lihai Gong, Luowei Yuan, Yang Fu, Yulong Qiao, Ying Lam Lui, Nuo Chen, Pengfei Lin, Hoi Hung Cheung, Ho Ko, Linyan Meng, Xiao Chen, Yong Lei, Kin Ming Kwan, Huating Wang, Shen Gu   +18 more
wiley   +1 more source

Pediatric Neuromuscular Diseases [PDF]

, 1980
Emma I. Brett
openalex   +1 more source

Muscle Organoids Reveal Exercise‐Like Contractions Rapidly Promote Muscle Health Via Lamtor1's Signaling to Both AMPK and mTOR

Advanced Science, EarlyView.
This study develops a novel 3D human skeletal muscle organoid platform to study the immediate molecular effects of exercise‐like contractions. The model uncovers rapid proteomic and transcriptomic responses, resolving a fundamental paradox by demonstrating how exercise‐induced Lamtor1 coordinately activates both AMPK and mTORC1. Lamtor1 is a compelling
Ziyue Yao, Zongmin Jiang, Xupeng Liu, Liping Zhang, Siyu Guo, Yu Chen, Lanfang Luo, Shilin Ma, Peng Wang, Ng Shyh‐Chang   +9 more
wiley   +1 more source

Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A

Annals of Clinical and Translational Neurology
Objective With potential therapies for many forms of Charcot‐Marie‐Tooth disease (CMT), responsive outcome measures are urgently needed for clinical trials.
Carolynne M. Doherty, Jasper M. Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Menelaos Pipis, Nick Zafeiropoulos, Katherine J. Stephens, Tiffany Grider, Shawna M. E. Feely, Peggy Nopoulous, Mariola Skorupinska, Evelin Milev, Emma Nicolaisen, Magdalena Dudzeic, Amy McDowell, Nuran Dilek, Francesco Muntoni, Alexander M. Rossor, Sachit Shah, Matilde Laura, Tarek A. Yousry, Daniel Thedens, John Thornton, Michael E. Shy, Mary M. Reilly   +25 more
doaj   +1 more source

Single‐Cell Immune Profiling Reveals Neutrophils Promote Myasthenia Gravis Exacerbation Through BAFF Secretion

Advanced Science, EarlyView.
Single‐cell transcriptomics and clinical data show that during myasthenia gravis (MG) exacerbation, bone marrow mature neutrophils expand and enter blood, with parallel increase of B‐cell activating factor (BAFF)–positive neutrophils. Experimental autoimmune myasthenia gravis (EAMG) confirms a pathogenic interferon‐γ (IFN‐γ)–neutrophil–BAFF axis ...
Zhaoxu Zhang, Jingya Dong, Mengyuan Qiu, Jie Bai, Xufeng Cheng, Xiaodong Song   +5 more
wiley   +1 more source

Rimegepant in airplane headache treatment: a case report

Journal of Medical Case Reports
Background Airplane headache is a rare condition first identified in 2004 and subsequently included in the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society in Cephalalgia 33:629 ...
Massimo Autunno, Marcella De Luca, Ludovica Ferraù, Carmelo Rodolico   +3 more
doaj   +1 more source

Respiratory failure and sleep in neuromuscular disease. [PDF]

, 1990
P.T. Bye, Elizabeth R. Ellis, Fuad Issa, PM Donnelly, Colin E. Sullivan   +4 more
openalex   +1 more source

DCAF12 Ubiquitin Ligase Promotes Lung Cancer Metastasis by Modulating the TRiC/CCT Chaperonin Complex

Advanced Science, EarlyView.
This study elucidates how DCAF12 facilitates non‐degradative ubiquitination to stabilize TRiC/CCT, thereby enhancing the folding capacity of chaperonins. This mechanism promotes the maturation of cytoskeletal proteins and activates key oncogenic drivers, including YAP, STAT3, and mTOR, ultimately driving metastatic progression in lung cancer.
Zhenyi Wang, Huanhuan Huang, Kaizong Huang, Xiaowen Cui, Leilei Wu, Renyu Lin, Zhe Zhao, Hua Chen, Cheng Zheng, Weilin Jin, Song Chen, Jiayan Chen, Yaping Xu, Dongping Wei   +13 more
wiley   +1 more source