Results 21 to 30 of about 2,312,065 (203)

A highly prevalent SINE mutation in the myostatin (MSTN) gene promoter is associated with low circulating myostatin concentration in Thoroughbred racehorses

open access: yesScientific Reports, 2021
Horse racing is a popular and financially important industry worldwide and researchers and horse owners are interested in genetic and training influences that maximise athletic performance.
Victoria O’Hara   +5 more
doaj   +1 more source

Complement Activation Profile in Myasthenia Gravis Patients: Perspectives for Tailoring Anti-Complement Therapy

open access: yesBiomedicines, 2022
The complement system plays a key role in myasthenia gravis (MG). Anti-complement drugs are emerging as effective therapies to treat anti-acetylcholine receptor (AChR) antibody-positive MG patients, though their usage is still limited by the high costs ...
Nicola Iacomino   +11 more
doaj   +1 more source

BDNF-dependent modulation of axonal transport is selectively impaired in ALS

open access: yesActa Neuropathologica Communications, 2022
Axonal transport ensures long-range delivery of essential cargoes between proximal and distal compartments, and is needed for neuronal development, function, and survival.
Andrew P. Tosolini   +5 more
doaj   +1 more source

Genetic neuromuscular disease [PDF]

open access: yesJournal 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

Systematic Comparison of Muscle Ultrasound Thickness in Polyneuropathies and Other Neuromuscular Diseases

open access: yesNeurology and Therapy, 2023
Background We have aimed to assess whether muscle thickness ultrasound (US) shows differences between patients with chronic inflammatory demyelinating polyneuropathy (CIDP), chronic axonal polyneuropathy (CAP), and other neuromuscular (NM) diseases ...
Sara A. Alnajjar   +5 more
doaj   +1 more source

Myotonic Dystrophy Type 2 and Autoimmune Diseases

open access: yes, 2023
s of the 17th International Congress on Neuromuscular Diseases (ICNMD 2022): S209 (eP02.06.02672 ...
Ivanović, V.   +9 more
core   +1 more source

Myasthenia gravis exacerbation after melatonin administration: case series from a tertiary referral centre

open access: yesBMC 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]

open access: yesInternational 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

open access: yesCase 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

Long-term treatment with subcutaneous immunoglobulin in multifocal motor neuropathy

open access: yesScientific 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

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