Results 11 to 20 of about 9,500,261 (386)

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population

Metabolites, 2022
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited genetic mitochondrial disease with a typical onset in the first two decades of life and a major involvement of central nervous system ...
Simona Zanotti, Daniele Velardo, Monica Sciacco   +2 more
doaj   +1 more source

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations

BMC Neurology, 2022
Background Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by lower-limb spastic paraplegia with highly genetic and clinical heterogeneity.
Jiannan Chen, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Xuan Guo, Jing Hu   +6 more
doaj   +1 more source

NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease

Scientific Reports, 2021
The neuromuscular junction (NMJ) is the peripheral synapse formed between a motor neuron axon terminal and a muscle fibre. NMJs are thought to be the primary site of peripheral pathology in many neuromuscular diseases, but innervation/denervation status ...
Alan Mejia Maza, Seth Jarvis, Weaverly Colleen Lee, Thomas J. Cunningham, G. Schiavo, M. Secrier, P. Fratta, J. Sleigh, E. Fisher, C. Sudre   +9 more
semanticscholar   +1 more source

Significant reduction of physical activity in patients with neuromuscular disease during COVID-19 pandemic: the long-term consequences of quarantine

Journal of Neurology, 2020
Background Quarantine was the measure taken by governments to control the rapid spread of COVID-19. This restriction resulted in a sudden change in people’s lifestyle, leading to an increase in sedentary behavior and a related decrease in the practice of
Vincenzo Di Stefano, G. Battaglia, Valerio Giustino, A. Gagliardo, Michele D’Aleo, Ottavio Giannini, A. Palma, F. Brighina   +7 more
semanticscholar   +1 more source

Improvement of Peak Cough Flow After the Application of a Mechanical In-exsufflator in Patients With Neuromuscular Disease and Pneumonia: A Pilot Study [PDF]

Annals of Rehabilitation Medicine, 2018
Objective To investigate and demonstrate persistent increase of peak cough flow after mechanical in-exsufflator application, in patients with neuromuscular diseases and pneumonia.
Ji Ho Jung, Hyeon Jun Oh, Jang Woo Lee, Mi Ri Suh, Jihyun Park, Won Ah Choi, Seong-Woong Kang   +6 more
doaj   +1 more source

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature Communications, 2020
A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin (LTN1/Ltn1) acts in a specialized protein quality control pathway—Ribosome-associated Quality Control (RQC)—by mediating proteolytic targeting of incomplete ...
Paige B. Martin, Yu Kigoshi-Tansho, R. Sher, G. Ravenscroft, J. Stauffer, R. Kumar, Ryo Yonashiro, Tina A. Müller, C. Griffith, W. Allen, D. Pehlivan, T. Harel, M. Zenker, Denise A. Howting, D. Schanze, E. Faqeih, Naif A. M. Almontashiri, R. Maroofian, H. Houlden, Neda Mazaheri, H. Galehdari, Ganka Douglas, J. Posey, M. Ryan, J. Lupski, N. Laing, C. Joazeiro, G. Cox   +27 more
semanticscholar   +1 more source

The era of cryptic exons: implications for ALS-FTD

Molecular Neurodegeneration, 2023
TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises from the nucleus to the cytoplasm in a range of neurodegenerative disorders.
Puja R. Mehta, Anna-Leigh Brown, Michael E. Ward, Pietro Fratta   +3 more
doaj   +1 more source

Neuromuscular disease modeling on a chip

Disease Models & Mechanisms, 2020
Organs-on-chips are broadly defined as microfabricated surfaces or devices designed to engineer cells into microscale tissues with native-like features and then extract physiologically relevant readouts at scale.
Jeffrey W Santoso, Megan L. McCain
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

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