Results 91 to 100 of about 70,643 (278)

Spinal muscular atrophy (Werdnig‑Hoffmann atrophy disease) [PDF]

Archives of the Balkan Medical Union, 2018
Introduction. Spinal muscular atrophy type 1 is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and atrophy.
Mariana A. RYZNYCHUK, Mariana I. KRYVCHANSKA, Irina V. LASTIVKA, Tatiana V. KHMARA, Valentyna A. GONCHARENKO   +4 more
doaj  

Nanogenerator Neuromodulation to Enable Locomotion Rehabilitation for Spinal Cord Injury via Epidural Electrical Stimulation

Advanced Science, EarlyView.
A hybrid nanogenerator (H‐NG) has been developed to be applied in epidural electrical stimulation (EES). Compared with a commercial stimulus generator (SG), the H‐NG can elicit hindlimb locomotion in rats with much lower electrical parameters and much smaller individual differences.
Cong Li, Yizhu Shan, Shihao Zheng, Puchuan Tan, Yuan Bai, Engui Wang, Lingling Xu, Ruizeng Luo, Shengyu Chao, Jing Huang, Pengyu Ren, Zhou Li, Hongqing Feng   +12 more
wiley   +1 more source

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]

, 2015
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the, De Bleecker, Jan, Doggen, Kris, Roy, Anna J, Van Casteren, Viviane, Van Coster, Rudy, Van Damme, Philip, Van den Bergh, Peter   +7 more
core   +2 more sources

Nano‐Anesthetics Regulate Neuro‐Immune Interaction for Treating Neuropathic Pain

Advanced Science, EarlyView.
Ce‐UiO‐66‐Bupivacaine (CUB) demonstrates triple therapeutic innovation: 1) Sustained analgesia with ROS scavenging synergistically resolves neuropathic pain; 2) Microglia/astrocyte polarization switch reprograms the pro‐regenerative immune microenvironment; 3) CGRP‐TSP‐1 axis activation couples inflammation suppression to axon regeneration, defining a ...
Yue Wang, Xiuru Ji, Yu Sun, Han Wang, Ting Wang, Tao Luo, Yanyong Cheng, Jia Yan, Dalong Ni, Hong Jiang   +9 more
wiley   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

The Immune Microenvironment: New Therapeutic Implications in Organ Fibrosis

Advanced Science, EarlyView.
This review summarizes recent advances in understanding the immune microenvironment's role in fibrosis, focusing on phenotypic/functional alterations of immune cells and their dynamic interactions with other cellular constituents within tissues. The authors further explore therapeutic opportunities and challenges in targeting immune microenvironment ...
Xiangqi Chen, Chuan Wu, Fei Tang, Jingyue Zhou, Li Mo, Yanping Li, Jinhan He   +6 more
wiley   +1 more source

Advances in 3D and 4D Printing of Soft Robotics and Their Applications

Advanced Intelligent Systems, EarlyView.
This article summarizes the development of 3D‐printed soft robotics in the recent decade. The article discusses the printing capabilities of different additive manufacturing technologies in terms of soft polymers, multimaterial printability, soft robotic printing, and 4D printing.
Hao Liu, Changchun Wu, Senyuan Lin, James Lam, Ning Xi, Yonghua Chen   +5 more
wiley   +1 more source

Experiential knowledge of disability, impairment and illness : the reproductive decisions of families genetically at risk [PDF]

, 2014
As the capacities of Reproductive Genetic Technologies expand, would-be parents face an increasing number of reproductive decisions regarding testing and screening for different conditions.
Boardman, Felicity K.
core   +1 more source

A Wearable Soft Actuator for Directional Tactile Stimulation: Design and Testing

Advanced Intelligent Systems, EarlyView.
A wearable actuator able to produce directional tactile stimulation is obtained by embedding a planar shape memory spring in silicone matrix. The matrix is designed taking into account skin characteristics and leveraging its multifunctionality: it acts as a bias load, improves the thermal behavior of the spring and wearability.
Fabio Lazzari, Jacopo Romanò, Davide Faranna, Lorenzo Garavaglia, Francesco Volontè, Carlo Fanciulli, Simone Pittaccio   +6 more
wiley   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source