Results 91 to 100 of about 80,027 (353)

Casting Light on Mechanical Properties of Lower and Upper Extremity Muscles in Children with Spinal Muscular Atrophy and Healthy Peers

Archives of Health Science and Research
Objective: This study aimed to compare the mechanical properties of upper and lower extremities between children with spinal muscular atrophy types 1 and 2 and healthy peers.
Seval KUTLUTÜRK-YIKILMAZ, Tülay ÇEVİK-SALDIRAN, Özgül ÖZTÜRK, Sedat ÖKTEM   +3 more
doaj   +1 more source

Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine

Advanced Science, EarlyView.
Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang, Feng Gao, Liqun Yu, Haokun Chen, Rongrong Zhu   +4 more
wiley   +1 more source

Spinal Muscular Atrophy and Arthrogryposis

Pediatric Neurology Briefs, 1997
Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at ...
J Gordon Millichap
doaj   +1 more source

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

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

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  

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

Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report

Journal of Cardiothoracic Surgery, 2023
Introduction Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy.
Mehmet Biçer, Şima Kozan, Figen Öztürk, Ayfer Arduç Akçay   +3 more
doaj   +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

Rate of complications due to neuromuscular scoliosis spine surgery in a 30-years consecutive series [PDF]

, 2017
PURPOSE: The aim of this study was to evaluate the rate of intraoperative and postoperative complications in a large series of patients affected by neuromuscular scoliosis. METHODS: It was a monocentric retrospective study.
CALDERARO, COSMA, Di Sanzo, Vincenzo, FERRETTI, Andrea, LABIANCA, LUCA, Montanaro, Antonello, Turturro, Francesco   +5 more
core   +1 more source