Results 21 to 30 of about 9,662,184 (369)

Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease

Journal of Foot and Ankle Research, 2020
Background Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases.
R. Kennedy, K. Carroll, J. McGinley, K. Paterson   +3 more
semanticscholar   +1 more source

When Size Really Matters: The Eccentricities of Dystrophin Transcription and the Hazards of Quantifying mRNA from Very Long Genes

Biomedicines, 2023
At 2.3 megabases in length, the dystrophin gene is enormous: transcription of a single mRNA requires approximately 16 h. Principally expressed in skeletal muscle, the dystrophin protein product protects the muscle sarcolemma against contraction-induced ...
John C. W. Hildyard, Richard J. Piercy
doaj   +1 more source

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]

, 2016
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J., Gillingwater, Thomas H., Groen, Ewout J.N., Hunter, Gillian, Jones, Ross A., Lane, Fiona M., Powis, Rachael A., Sherman, Diane L., Shorrock, Hannah K., Zheng, Yinan   +9 more
core   +3 more sources

The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

Journal of Neuromuscular Diseases, 2020
We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscular disease ...
V. Hodgkinson, J. Lounsberry, S. M’Dahoma, Angela C. Russell, T. Benstead, B. Brais, C. Campbell, W. Johnston, Hanns Lochmüller, Hanns Lochmüller, Anna McCormick, C. Nguyen, E. O’Ferrall, E. O’Ferrall, M. Oskoui, H. Briemberg, P. Bourque, S. Botez, N. Cashman, K. Chapman, N. Chrestian, M. Crone, P. Dobrowolski, S. Dojeiji, J. Dowling, N. Dupré, A. Genge, H. Gonorazky, I. Grant, S. Hasal, A. Izenberg, S. Kalra, H. Katzberg, C. Krieger, E. Leung, G. Linassi, A. MacKenzie, J. Mah, A. Marrero, R. Massie, R. Massie, G. Matte, L. McAdam, H. McMillan, M. Melanson, M. Mezei, C. O'Connell, G. Pfeffer, C. Phan, S. Plamondon, C. Poulin, X. Rodrigue, K. Schellenberg, K. Selby, J. Sheriko, C. Shoesmith, G. Smith, M. Taillon, S. Taylor, S. Venance, J. Warman-Chardon, S. Worley, L. Zinman, L. Korngut   +63 more
semanticscholar   +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

Correlation between kinematic sagittal parameters of the cervical lordosis or head posture and disc degeneration in patients with posterior neck pain

Open Medicine, 2021
The purpose of this retrospective cross-sectional study was to examine the degrees of the cervical disc degeneration and the parameters of cervical sagittal balance in plain radiographs, representing cervical lordosis or head posture in subjects with ...
Lee Hyo Jeong, Jeon Dae Geun, Park Jung Hyun   +2 more
doaj   +1 more source

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
core   +2 more sources

Synaptic actions of amyotrophic-lateral-sclerosis-associated G85R-SOD1 in the squid giant synapse [PDF]

, 2020
© The Author(s), 2020. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Song, Y.
Song, Yuyu
core   +1 more source

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene

Cells, 2023
Phospholamban is involved in the regulation of the activity and storage of calcium in cardiac muscle. Several mutations have been identified in the PLN gene causing cardiac disease associated with arrhythmogenic and dilated cardiomyopathy.
Simona Zanotti, Michela Ripolone, Laura Napoli, Daniele Velardo, Sabrina Salani, Patrizia Ciscato, Silvia Priori, Deni Kukavica, Andrea Mazzanti, Luca Diamanti, Elisa Vegezzi, Maurizio Moggio, Stefania Corti, Giacomo Comi, Monica Sciacco   +14 more
doaj   +1 more source

カベオリン異常症における特徴的な骨格筋MRI画像所見に関する検討 [PDF]

, 2019
博士(医学) 甲第702号(主論文の要旨、要約、審査結果の要旨、本文)，著者名:Kumiko IHIGURO・Takahiro NAKAYAMA・Masaru YOSHIOKA・Terumi MURAKAMI・Sachiko KAJINO・Minobu SHICHIJI・Takatoshi SATO・Naomi HINO-FUKUYO・Satoshi KURU・Makiko OSAWA・Satoru NAGATA・Mariko OKUBO・Nobuyuki MURAKAMI・Yukiko K ...
石黒 久美子
core   +2 more sources