Results 11 to 20 of about 9,662,184 (369)

Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy

European Journal of Histochemistry, 2022
Sarcoglycanopathies are highly heterogeneous in terms of disease progression, muscular weakness, loss of ambulation and cardiac/respiratory involvement.
Simona Zanotti, Francesca Magri, Francesca Poggetti, Michela Ripolone, Daniele Velardo, Francesco Fortunato, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco   +10 more
doaj   +1 more source

Matrin 3 in neuromuscular disease: physiology and pathophysiology.

JCI Insight, 2021
RNA-binding proteins (RBPs) are essential factors required for the physiological function of neurons, muscle, and other tissue types. In keeping with this, a growing body of genetic, clinical, and pathological evidence indicates that RBP dysfunction and ...
Ahmed M. Malik, S. Barmada
semanticscholar   +1 more source

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

Genetic neuromuscular disease [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2002
The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders.
Mary M, Reilly, Michael G, Hanna
openaire   +2 more sources

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