Results 81 to 90 of about 604,348 (394)

Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]

, 2020
Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib, Kempa, Stefan, Langer, Henning Tim, Spuler, Simone   +3 more
core   +2 more sources

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

MRI Quantitative Evaluation of Muscle Fatty Infiltration

Magnetochemistry, 2023
Magnetic resonance imaging (MRI) is the gold-standard technique for evaluating muscle fatty infiltration and muscle atrophy due to its high contrast resolution. It can differentiate muscular from adipose tissue accurately.
Vito Chianca, Bottino Vincenzo, Renato Cuocolo, Marcello Zappia, Salvatore Guarino, Francesco Di Pietto, Filippo Del Grande   +6 more
doaj   +1 more source

Tremor in motor neuron disease may be central rather than peripheral in origin [PDF]

, 2018
BACKGROUND AND PURPOSE: Motor neuron disease (MND) refers to a spectrum of degenerative diseases affecting motor neurons. Recent clinical and post-mortem observations have revealed considerable variability in the phenotype.
Balint, B, Batla, A, Berardelli, A, Bhatia, K P, Ciocca, M, Latorre, A, Rocchi, L, Rothwell, J C, Sidle, K, Stamelou, M   +9 more
core   +2 more sources

Mitochondria‐associated membranes (MAMs): molecular organization, cellular functions, and their role in health and disease

FEBS Open Bio, EarlyView.
Mitochondria‐associated membranes (MAMs) are contact sites between the endoplasmic reticulum and mitochondria that regulate calcium signaling, lipid metabolism, autophagy, and stress responses. This review outlines their molecular organization, roles in cellular homeostasis, and how dysfunction drives neurodegeneration, metabolic disease, cancer, and ...
Viet Bui, Maryline Santerre, Natalia Shcherbik, Bassel E Sawaya   +3 more
wiley   +1 more source

Newborn screening for spinal muscular atrophy : the views of affected families and adults [PDF]

, 2017
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria.
Boardman, Felicity K., Griffiths, Frances, Young, Philip J.   +2 more
core   +1 more source

Natural history of lung function in spinal muscular atrophy

Orphanet Journal of Rare Diseases, 2020
Background Respiratory muscle weakness is an important feature of spinal muscular atrophy (SMA). Progressive lung function decline is the most important cause of mortality and morbidity in patients.
C. Wijngaarde, E. Veldhoen, R. V. van Eijk, M. Stam, L. Otto, F. Asselman, R. W. Wösten-van Asperen, E. Hulzebos, Laura P. Verweij-van den Oudenrijn, B. Bartels, I. Cuppen, R. Wadman, Leonard H. van den Berg, C. K. van der Ent, W. L. van der Pol   +14 more
semanticscholar   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Association between muscular atrophy and mortality risk in patients with COPD: a systematic review

Therapeutic Advances in Respiratory Disease
Background: Muscular atrophy often can be seen at the end of stage in many chronic diseases. It will also negatively influence patients’ outcomes. Different studies showed that the association between muscular atrophy and mortality in patients with ...
Wenyan Li, Ying Wu, Xun Yang, Jing Zhu, Mei Feng, Rong Deng, Cui Yang, Chengcheng Sun   +7 more
doaj   +1 more source

The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy

Neuroscience Insights, 2020
Spinal muscular atrophy (SMA) is 1 of the leading causes of infant mortality. SMA is mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or mutation in the SMN1 gene.
R. Singh, E. Ottesen, N. Singh
semanticscholar   +1 more source