Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
Neurohormonal modulation of the Limulus heart: amine actions on neuromuscular transmission and cardiac muscle [PDF]
The responses of Limulus cardiac neuromuscular junctions and cardiac muscle cells to four endogenous amines were determined in order to identify the cellular targets underlying amine modulation of heartbeat amplitude.
Augustine, George J. +3 more
core +1 more source
Monte Carlo simulation with fixed steplength for diffusion processes in nonhomogeneous media [PDF]
Monte Carlo simulation is one of the most important tools in the study of diffusion processes. For constant diffusion coefficients, an appropriate Gaussian distribution of particle's steplengths can generate exact results, when compared with integration ...
Hoyuelos, Miguel Luis +2 more
core +1 more source
Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam +6 more
wiley +1 more source
The effects of age and ganglioside composition on the rate of motor nerve terminal regeneration following antibody-mediated injury in mice [PDF]
Gangliosides are glycosphingolipids highly enriched in neural plasma membranes, where they mediate a diverse range of functions and can act as targets for auto-antibodies present in human immune-mediated neuropathy sera.
Cunningham, Madeleine E. +4 more
core +1 more source
Newcomb–Benford’s Law in Neuromuscular Transmission: Validation in Hyperkalemic Conditions
Recently, we demonstrated the validity of the anomalous numbers law, known as Newcomb–Benford’s law, in mammalian neuromuscular transmission, considering different extracellular calcium.
Adriano Silva +2 more
doaj +1 more source
Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz +20 more
wiley +1 more source
Factors that affect the onset of action of non-depolarizing neuromuscular blocking agents [PDF]
Neuromuscular blockade plays an important role in the safe management of patient airways, surgical field improvement, and respiratory care. Rapid-sequence induction of anesthesia is indispensable to emergency surgery and obstetric anesthesia, and its ...
Yong Byum Kim +2 more
doaj +1 more source
Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen +18 more
wiley +1 more source
A Drosophila Mutant with a Temperature-Sensitive Block in Nerve Conduction [PDF]
A mutant, napts (no action potential, temperature-sensitive), is described in which axonal conduction fails at high temperature. Synaptic transmission at the larval neuromuscular junction is unimpaired.
Benzer, Seymour +4 more
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