Results 61 to 70 of about 9,662,184 (369)
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease
Molecules, 2017 Neuromuscular disorders such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy are neurodegenerative genetic diseases characterized primarily by muscle weakness and wasting.
V. Sardone +4 more
semanticscholar +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
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
Improving translational studies: lessons from rare neuromuscular diseases [PDF]
, 2015 Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core +3 more sources
Chronic Respiratory Disease, 2017 Noninvasive ventilatory support (NVS) is sometimes reported as suboptimal in patients with neuromuscular disease (NMD). The reasons for this include inadequate ventilator settings and/or lack of interface tolerance.
T. Pinto +4 more
semanticscholar +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Fluids and Barriers of the CNSBackground Using in vivo neuroimaging techniques, growing evidence has demonstrated that the choroid plexus (CP) volume is enlarged in patients with several neurodegenerative diseases, including Alzheimer’s disease and Parkinson’s disease.
Tingjun Dai +16 more
doaj +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
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