Results 71 to 80 of about 9,662,184 (369)

Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans [PDF]

open access: yes, 2017
The mouse is one of the most widely used animal models to study neuromuscular diseases and test new therapeutic strategies. However, findings from successful pre-clinical studies using mouse models frequently fail to translate to humans due to various ...
A De Luca   +81 more
core   +3 more sources

Noninvasive Respiratory Management of Patients With Neuromuscular Disease

open access: yesAnnals of Rehabilitation Medicine, 2017
This review article describes definitive noninvasive respiratory management of respiratory muscle dysfunction to eliminate need to resort to tracheotomy.
J. Bach
semanticscholar   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer [PDF]

open access: yes, 2005
Lysosomal storage is the most common cause of neurodegenerative brain disease in preadulthood. However, the underlying cellular mechanisms that lead to neuronal dysfunction are unknown.
Bellen, Hugo J   +7 more
core   +3 more sources

Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira   +10 more
wiley   +1 more source

Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih   +40 more
wiley   +1 more source

Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]

open access: yes, 2019
Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore   +8 more
core   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan   +22 more
wiley   +1 more source

Hippocampal subfield and anterior-posterior segment volumes in patients with sporadic amyotrophic lateral sclerosis

open access: yesNeuroImage: Clinical, 2021
Neuroimaging studies of hippocampal volumes in patients with amyotrophic lateral sclerosis (ALS) have reported inconsistent results. Our aims were to demonstrate that such discrepancies are largely due to atrophy of different regions of the hippocampus ...
Shuangwu Liu   +24 more
doaj   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki   +8 more
wiley   +1 more source

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