Results 91 to 100 of about 116,027 (330)

Spinal muscular atrophy: clinical features and treatment of spinal and limb deformities. Interstate Consensus Protocol

Хирургия позвоночника, 2020
Objective. To substantiate the protocol for the diagnosis and treatment of deformities of the spine and limbs in patients with spinal muscular atrophy basing on an assessment of the level of evidence of published data. Material and Methods.
Sergey O. Ryabykh, Dmitry M. Savin, Egor Yu. Filatov, Svetlana N. Medvedeva, Anastasia N. Tretjakova, Dmitry A. Popkov, Tatyana V. Ryabykh, Elena N. Shchurova, Marat S. Saifutdinov   +8 more
doaj   +1 more source

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]

, 2013
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H., Hunter, G., Lamont, D. J., Mutsaers, C. A., Wishart, T. M.   +4 more
core   +3 more sources

Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review

Developmental Medicine & Child Neurology, 2021
To summarize the current knowledge on brain involvement in spinal muscular atrophy (SMA) type 1, focusing on brain pathology, cognition, and speech/language development.
R. Masson, C. Brusa, M. Scoto, G. Baranello   +3 more
semanticscholar   +1 more source

Purpose‐Adaptable Reinforced 3D Hyaluronic‐Acid Based Platform to Study Pathomechanisms of the Central Nervous System

Advanced Healthcare Materials, EarlyView.
Platform system to create biofabricated 3D spinal cord tissue models: Combining high resolution PCL fiber placement, a customized, hyaluronic acid‐based hydrogel, two cell types (spinal cord neurons and astrocytes) together with three distinct laminin isoforms allow the formation of functional cell–cell network interactions.
Nicoletta Murenu, Esra Tuerker, Anna‐Lena Wiessler, Jessica Faber, Ievgenii Liashenko, Jeanette Weigelt, Jörg Tessmar, Paul D. Dalton, Sibylle Jablonka, Mateo S. Andrade Mier, Carmen Villmann, Silvia Budday, Natascha Schaefer   +12 more
wiley   +1 more source

A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus

Clinical Neurophysiology Practice, 2017
Objective: This paper reports a patient with bulbospinal muscular atrophy (BSMA) who presented with spinal myoclonus, documented by video and surface electromyography.
Manabu Inoue, Yasuhiro Kojima, Masutaro Kanda, Koji Tsuzaki, Yoko Shibata, Toshiaki Hamano, Hiroshi Shibasaki   +6 more
doaj   +1 more source

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Genetics in Medicine, 2020
Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging.
PhD Xiao Chen, PhD Alba Sanchis-Juan, PhD Courtney E. French, Andrew J. Connell, PhD Isabelle Delon, Z. Kingsbury, PhD Aditi Chawla, PhD Aaron L. Halpern, PhD Ryan J. Taft, Nihr BioResource, DPhil David R. Bentley, PhD Matthew E. R. Butchbach, F. D. F. Lucy Raymond, PhD Michael A. Eberle   +13 more
semanticscholar   +1 more source

Soft Ionic and Electronic Triboelectric Nanogenerators: Toward Attachable and Implantable Biomedical Applications

Advanced Materials, EarlyView.
This review provides an overview of triboelectric nanogenerator (TENG)–based biomedical applications by classifying studies into electronic and ionic systems across attachable and implantable platforms. It summarizes key material choices, device structures, and working mechanisms that characterize current TENG‐based research, and outlines six future ...
Kyongtae Choi, Jimin Park, Won Jun Song, Soohwan An, Seonggyu Choe, Byeong‐Rak Keum, Min Young Kim, Dae Hee Hwang, Young‐Geun Park, Sung‐Won Kim, Sangyul Baik, Gwang‐Bum Im, Younghoon Lee   +12 more
wiley   +1 more source

Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity

Case Reports in Medicine, 2018
Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy ...
Marwan El Ghoch, Paola Vittoria Bazzani, Simona Calugi, Riccardo Dalle Grave   +3 more
doaj   +1 more source

Piezo2 Mediates a Vicious Cycle of “Mechanical Homeostasis Imbalance—Inflammation” in Sensory Nerves and the Cartilage Endplate

Advanced Science, EarlyView.
In a lumbar spine instability model, dorsal root ganglion cells mediate the perception of relevant mechanical stresses through Piezo2 and subsequently release CGRP. CGRP activates the NF‐κB signaling pathway in cartilage endplate cells through the receptor RAMP1.
Hanpeng Xu, Wen Geng, Zhi Du, Yifan Du, Di Wu, Bide Tong, Huaizhen Liang, Xingyu Zhou, Zixuan Ou, Junyu Wei, Kun Wang, Yu Song, Wenbin Hua, Yan Xu, Wencan Ke, Bingjin Wang, Cao Yang   +16 more
wiley   +1 more source

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development [PDF]

, 2015
Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in ...
Allen, Hugh, Bourke, John, Burghes, Arthur, Bushby, Kate, Buyse, Gunnar, Caizergues, Didier, Catlin, Nick, Clemens, Paula, Cnaan, Avital, Comi, Giacomo, Connor, Edward, Csimma, Cristina, Day, Simon, de Luca, Annamaria, de Montleau, Béatrice, de Visser, Marianne, Dittrich, Sven, Dubrosky, Alberto, Eagle, Michelle, Finkel, Richard, Fishbeck, Kenneth, Flanigan, Kevin M., Furlong, Patricia, Grounds, Miranda, Hauschke, Dieter, Heslop, Emma, Hesterlee, Sharon, Hoffman, Eric, Irwin, Joseph, Jarecki, Jill, Kaufmann, Petra, Kelly, Michael, Korinthenberg, Rudolf, Laforêt, Pascal, Larkindale, Jane, Lovering, Richard, Mayer, Henry, McCall, John, McDonald, Robert, McNally, Elizabeth, McNeil, Dawn Elizabeth, McNeil, Elizabeth, Mendell, Jerry, Miller, Debra, Nagaraju, Kanneboyina, North, Kathryn, Ouillade, Marie-Christine, Straub, Volker, Wagner, Kathryn R., Wells, Dominic J.   +49 more
core   +4 more sources