Results 321 to 330 of about 9,384,569 (402)
Physical Activity in Patients with Neuromuscular Disease Three Years after COVID-19, a Longitudinal Survey: The After-Effects of the Quarantine and the Benefits of a Return to a Healthier Life-Style. [PDF]
Leale I+13 more
europepmc +1 more source
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia
Abstract Background ANK3 encodes ankyrin‐G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.
Reza Maroofian+11 more
wiley +1 more source
Abstract Background Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early‐onset myoclonus, epilepsy, generalized tonic–clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be associated with developmental and ...
Fulya Akçimen+13 more
wiley +1 more source
Abstract Purpose The temporal course of spontaneous mechanical activities of musculature (SMAMs) is investigated using a novel multiple‐point diffusion‐weighted stimulated echo imaging sequence (MP‐DW‐STE) with adapted spatial and temporal resolution. For this purpose, different sequence settings and measurement parameters are applied. Methods A single‐
Martin Schwartz+5 more
wiley +1 more source
Motor Unit Number Index (MUNIX) in Control Children: Reference Values and Reliability
ABSTRACT Introduction/Aims The motor unit number index (MUNIX) is recognized as a reliable electrophysiological biomarker, and reference values are available for healthy adults but not for children. The aim of this study was to determine reference MUNIX values in healthy children.
Christophe Boulay+7 more
wiley +1 more source
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Exercise in Neuromuscular Diseases [PDF]
This article reviews the current knowledge regarding the benefits and contraindications of exercise on individuals with neuromuscular diseases (NMDs). Specific exercise prescriptions for individuals with NMDs do not exist because the evidence base is limited. Understanding the effect of exercise on individuals with NMDs requires the implementation of a
R. Ted Abresch+3 more
openaire +2 more sources
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
Muscle and Nerve, 2020The diagnosis of uncommon pediatric neuromuscular disease (NMD) is challenging due to genetic and phenotypic heterogeneity, yet is important to guide treatment, prognosis, and recurrence risk.
Isabella Herman+6 more
semanticscholar +1 more source
Seminars in Neurology, 2009
Neuromuscular diseases are a broadly defined group of disorders that all involve injury or dysfunction of peripheral nerves or muscle. The site of injury can be in the cell bodies (i.e., amyotrophic lateral sclerosis [ALS] or sensory ganglionopathies), axons (i.e., axonal peripheral neuropathies or brachial plexopathies), Schwann cells (i.e., chronic ...
Brett M. Morrison, John W. Griffin
openaire +3 more sources
Neuromuscular diseases are a broadly defined group of disorders that all involve injury or dysfunction of peripheral nerves or muscle. The site of injury can be in the cell bodies (i.e., amyotrophic lateral sclerosis [ALS] or sensory ganglionopathies), axons (i.e., axonal peripheral neuropathies or brachial plexopathies), Schwann cells (i.e., chronic ...
Brett M. Morrison, John W. Griffin
openaire +3 more sources
Hypoventilation in Neuromuscular Disease [PDF]
Hypoventilation in neuromuscular disease is attributed to both respiratory muscle weakness and reduced chemoreceptor sensitivity essential in ventilatory drive. Acute or chronic respiratory failure is seen in a spectrum of neuromuscular disease; whereas some are treatable others are progressive and devastating.
Eric J Huang+2 more
openaire +2 more sources