Results 131 to 140 of about 888,799 (202)

Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT We report a 3‐year‐old male with congenital hypotonia, proximal contractures, and distal hyperlaxity. Exome sequencing identified a novel homozygous COL6A1 variant (c.2821C>T), classified as a variant of uncertain significance. The distinct phenotype strongly supports Ullrich congenital muscular dystrophy, expanding the gene's mutational ...
Khadeeja Nofal, Hamza M. A. Ghaith, Haneen Abdullatif Barghouthi, Mohammad Shahrori, Batool Darraj, Anwar Abu Hetta   +5 more
wiley   +1 more source

General Anesthesia Plus Muscle Relaxant in a Patient with Kugelberg Welander Disease: A Case Report

Archives of Anesthesia and Critical Care, 2015
Spinal muscular atrophies (SMAs) represent a rare group of inherited disorders that cause progressive degeneration of the anterior horn cells of the spinal cord. The exact cause of the degeneration is unknown. Loss of these cells results in a progressive
Ebrahim Espahbodi, Amir Abbas Yaghooti, Hossein Sadrossadat, Mehrdad Shoroughi, Alireza Ebrahim Soltani, Mehrdad Goudarzi, Mehdi Sanatkar   +6 more
doaj  

Human biomarker navigator

iMeta, Volume 5, Issue 5, October 2026.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Scoliosis in Spinal Muscular Atrophy: Current Approach Toward Management

Indian Spine Journal
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of anterior horn cells in the spinal cord, resulting in progressive muscular weakness.
Saumyajit Basu, Ayon Ghosh
doaj   +1 more source

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

Fibro‐Adipogenic Progenitor Ablation Triggers Muscle Atrophy Through Cell Death‐Induced Inflammation

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Skeletal muscle mass maintenance involves coordination of myofibers with mononuclear cell populations, including satellite cells, resident macrophages and fibro‐adipogenic progenitors (FAPs). FAPs, identified by surface expression of PDGFRα, are important contributors to muscle homeostasis, as genetic ablation of FAPs induces rapid ...
Yangyi E. Luo, Young il Lee, Zoe Abe‐Teh, Rachel Y. Young, Lan Wei‐LaPierre, Elisabeth R. Barton   +5 more
wiley   +1 more source

Health technology assessment of the addition of spinal muscular atrophy (SMA) to the National Newborn Bloodspot Screening Programme

, 2023
At the request of the National Screening Advisory Committee (NSAC), the Health Information and Quality Authority (HIQA) agreed to undertake a health technology assessment (HTA) of the addition of spinal muscular atrophy (SMA) to the National Newborn ...
Health Information and Quality Authority (HIQA)
core  

Aging of Skeletal Muscle: From Molecular Mechanisms to Therapeutic Interventions

MedComm, Volume 7, Issue 10, October 2026.
Skeletal muscle aging is driven by coordinated local breakdown across myofibers, stem and stromal cells, immune and vascular compartments, and neuromuscular control. These mechanisms promote mitochondrial dysfunction, inflammation, senescence, impaired regeneration, fibrosis, myosteatosis, denervation, and functional decline.
Ting Liu, Yaomin Hu
wiley   +1 more source

Machine learning predicts treatment response to nusinersen in non-sitter spinal muscular atrophy (SMA). [PDF]

J Neuromuscul Dis
Stimpson G, O'Reilly E, Coratti G, Ridout D, Chakraborti T, Mitra R, de Sanctis R, Pane M, Scoto M, Mercuri E, Muntoni F, Baranello G, International SMA Consortium.   +12 more
europepmc   +2 more sources

Myelination and Remyelination in Peripheral Nerve Injury: Mechanisms, Regulation, and Therapeutic Perspectives

MedComm, Volume 7, Issue 10, October 2026.
Peripheral nerve injury triggers axonal degeneration, myelin breakdown, and Schwann cell reprogramming. Remyelination requires reactivation of the SOX10–OCT6–KROX20/EGR2 transcriptional hierarchy, axonal NRG1–ErbB2/3 signaling, metabolic support, and coordinated immune regulation.
Li‐Xin Huang, Tao Sun, Yi‐Bo Zhao, Zhi‐Min Wu, Jun Sun, Ming‐Yang Li, Qing‐Yi Huo, Yun‐Mou Ou, Qing‐Tian Liang, Cong Ling, Bao‐Yu Zhang, Chuan Chen, Ying Guo, Hui Wang   +13 more
wiley   +1 more source