Results 21 to 30 of about 10,730,025 (313)
BMC Neurology, 2020 Background Myasthenia gravis is an autoimmune disease mediated by antibodies against proteins associated with the postsynaptic membrane of the neuromuscular junction. Several drugs may trigger an exacerbation of the disease.
Velina Nedkova-Hristova +2 more
doaj +1 more source
The Neuromuscular Junction: Roles in Aging and Neuromuscular Disease [PDF]
International Journal of Molecular Sciences, 2021 The neuromuscular junction (NMJ) is a specialized synapse that bridges the motor neuron and the skeletal muscle fiber and is crucial for conversion of electrical impulses originating in the motor neuron to action potentials in the muscle fiber. The consideration of contributing factors to skeletal muscle injury, muscular dystrophy and sarcopenia cannot
Shama R. Iyer +2 more
openaire +2 more sources
Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review
Case Reports in Genetics, 2020 Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of ...
Manuela Quiroga-Carrillo +3 more
doaj +1 more source
EBioMedicine, 2019 Duchenne muscular dystrophy (DMD) is an X-linked disorder characterized by progressive muscle degeneration, caused by the absence of dystrophin. Exon skipping by antisense oligonucleotides (ASOs) has recently gained recognition as therapeutic approach in
M. Tsoumpra +5 more
semanticscholar +1 more source
Long-term treatment with subcutaneous immunoglobulin in multifocal motor neuropathy
Scientific Reports, 2021 Multifocal motor neuropathy (MMN) is a rare disease with a prevalence of less than 1 per 100,000 people. Intravenous immunoglobulin (IVIG) therapy, performed for a long-term period, has been demonstrated able to improve the clinical picture of MMN ...
Luca Gentile +6 more
doaj +1 more source
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
Annals of Clinical and Translational Neurology, 2023 Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
Luke Perry +7 more
doaj +1 more source
JCI Insight, 2019 The control of voluntary skeletal muscle contraction relies on action potentials, which send signals from the motor neuron through the neuromuscular junction (NMJ).
Chuang-Yu Lin +9 more
semanticscholar +1 more source
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Nature Communications, 2022 Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist ...
William L. Macken +22 more
doaj +1 more source
European Journal of NeurologyThis update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO‐NMD ...
P. van Damme +19 more
semanticscholar +1 more source
Therapeutic Advances in Chronic Disease, 2019 Background: The purpose of this systematic review was to summarize the different dysphagia screening and evaluation tools, and to identify their measurement properties in adults with neuromuscular diseases (NMDs).
N. Audag +3 more
semanticscholar +1 more source