Results 51 to 60 of about 245,637 (381)
Skeletal Muscle, 2022 Background Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway.
Francesca Magri +16 more
doaj +1 more source
A complex network approach to time series analysis with application in diagnosis of neuromuscular disorders [PDF]
arXiv, 2021 Electromyography (EMG) refers to a biomedical signal indicating neuromuscular activity and muscle morphology. Experts accurately diagnose neuromuscular disorders using this time series. Modern data analysis techniques have recently led to introducing novel approaches for mapping time series data to graphs and complex networks with applications in ...
arxiv
A pilot study of the Earable device to measure facial muscle and eye movement tasks among healthy volunteers [PDF]
, 2022 Many neuromuscular disorders impair function of cranial nerve enervated muscles. Clinical assessment of cranial muscle function has several limitations. Clinician rating of symptoms suffers from inter-rater variation, qualitative or semi-quantitative scoring, and limited ability to capture infrequent or fluctuating symptoms.
arxiv +1 more source
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]
, 2016 Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo +37 more
core +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
Intraperitoneal Injection of Neonatal Mice
Bio-Protocol, 2023 Administration of substances into neonatal mice is required for early treatment with pre-clinical therapeutics, delivery of recombination-inducing substances, and dosing with viruses or toxins, amongst other things.
Amanda Pocratsky, James Sleigh
doaj +1 more source
Gastrointestinal neuromuscular apparatus: An underestimated target of gut microbiota [PDF]
, 2016 Over the last few years, the importance of the resident intestinal microbiota in the pathogenesis of several gastro- intestinal diseases has been largely investigated.
Cicala, M +3 more
core +1 more source
Clinical outcome measures following plasma exchange for MG exacerbation
Annals of Clinical and Translational Neurology, 2019 Our objective is to report longitudinal results of the MG‐ADL, MG‐Composite, MG‐MMT, and MG‐QoL15 in an open‐label trial of therapeutic plasma exchange in myasthenia gravis.
Shruti M. Raja +5 more
doaj +1 more source
D{é}composition et analyse de trac{é}s EMG pour aider au diagnostic des maladies neuromusculaires [PDF]
arXiv, 2021 The electromyogram (EMG) in needle detection represents one of the steps of the electroneuromyogram (ENMG), an examination commonly performed in neurology. By inserting a needle into a muscle and studying the contraction during effort, the EMG provides extremely useful information on the functioning of the neuromuscular system of an individual, but it ...
arxiv
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source