Results 41 to 50 of about 10,730,025 (313)

Assessing the Safety and Efficacy of Lamotrigine as Anti-myotonic Agent in Myotonic Dystrophy Type 1 (DM1): A Longitudinal, Open-Label, Pilot Study

Neurology and Therapy
Introduction Myotonia, defined as impaired relaxation of skeletal muscles after voluntary contraction or electrical stimulation, is a core feature of myotonic dystrophy type 1 (DM1) and can be highly disabling.
Barbara Risi, Nesaiba Ait Allali, Stefano Cotti Piccinelli, Filomena Caria, Simona Damioli, Beatrice Labella, Enrica Bertella, Giorgia Giovanelli, Francesca Garofali, Giuseppina Margollicci, Roberto Carugati, Lucia Ferullo, Emanuele Olivieri, Loris Poli, Alessandro Padovani, Massimiliano Filosto   +15 more
doaj   +1 more source

Genetic approaches to the treatment of inherited neuromuscular diseases.

Human Molecular Genetics, 2019
Inherited neuromuscular diseases are a heterogeneous group of developmental and degenerative disorders that affect motor unit function. Major challenges toward developing therapies for these diseases include heterogeneity with respect to clinical ...
Bhavya Ravi, Anthony Antonellis, C. Sumner, A. Lieberman   +3 more
semanticscholar   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Temporal and intra-horse consistency of circulating myostatin concentrations in Thoroughbred racehorses

Scientific Reports
In Thoroughbred horses, a highly prevalent short interspersed nuclear element (SINE) mutation in the myostatin gene (MSTN) promoter influences circulating myostatin concentration and is associated with muscle morphology, fracture risk and optimal race ...
Katherine Hanousek, Victoria O’Hara, Dominique O. Riddell, Richard J. Piercy   +3 more
doaj   +1 more source

Acceptability of a Protein Oral Nutritional Supplement with Xanthan Gum in Patients with Neuromuscular Diseases and Dysphagia: A Cross-Sectional Study

Gastrointestinal Disorders
Background/Objectives: Oropharyngeal dysphagia (OD) is a prevalent symptom in patients with neuromuscular diseases (NMDs) and increases the risk of aspiration and malnutrition.
Federica Felloni, Luca Costantini, Michela Coccia   +2 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, Giampietro Schiavo, Maria Secrier, Pietro Fratta, James N. Sleigh, Elizabeth M. C. Fisher, Carole H. Sudre   +9 more
doaj   +1 more source

AscF in the mycobacterial CIII–CIV supercomplex lacks metal and nucleotide binding but links malate oxidation to respiration

FEBS Letters, EarlyView.
The mycobacterial CIII‐CIV respiratory supercomplex is an obligate assembly, encompassing several subunits of unknown functions. We have characterized the intracellular subunit AscF, and show that it is unlikely to be a sensor for metals or nucleotides, but is required for growth on nonfermentable energy sources, and likely works as an adapter for ...
Eni Rile, Riccardo Diamanti, Daniel Lundin, Soni Sharma, Robin Lissner, Coenraad P. Kuil, Martin Högbom, Dirk Bald, Dan Sjöstrand   +8 more
wiley   +1 more source

A case of motor neuron involvement in Gaucher disease

Molecular Genetics and Metabolism Reports, 2019
Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive ...
V. Pozzilli, F. Giona, M. Ceccanti, C. Cambieri, V. Frasca, E. Onesti, L. Libonati, S. Di Bari, I. Fiorini, L. Cardarelli, M. Santopietro, M. Inghilleri   +11 more
doaj   +1 more source

The prevalence and severity of disease-related disabilities and their impact on quality of life in neuromuscular diseases

Disability and Rehabilitation, 2019
Purpose: People with neuromuscular disease experience lower quality of life levels than people from the general population. We examined the prevalence and severity of a broad range of neuromuscular disease-related disabilities and their impact on health ...
I. Bos, K. Wynia, J. Almansa, G. Drost, B. Kremer, J. Kuks   +5 more
semanticscholar   +1 more source

Diseases of the neuromuscular junction

Current Opinion in Pharmacology, 2002
The neuromuscular junction is a prototype synapse and it is also the site of well-characterised autoimmune and hereditary disorders. In the presynaptic terminal, voltage-gated potassium channels and voltage-gated calcium channels are subtly altered in genetic disorders and mutations in the enzyme that synthesises acetylcholine have been demonstrated in
McConville, J, Vincent, A
openaire   +3 more sources