Results 71 to 80 of about 121,131 (263)
: Neuromuscular diseases (NMDs), in their phenotypic heterogeneity, share quite invariably common issues that involve several clinical and socio-economical aspects, needing a deep critical analysis to develop better management strategies.
Toscano, Antonio +17 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom +5 more
wiley +1 more source
NEUROMUSCULAR DISEASE AND ANAESTHESIA
British Journal of Anaesthesia, 1974 Diseases affecting the neuromuscular system are numerous and not uncommon (for classification see Appendix). Almost all of the drugs used in anaesthesia have either a direct or an indirect effect on muscle, and so an understanding by anaesthetists of the neuromuscular diseases is essential in view of the universal requirement of muscle relaxation ...
openaire +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source
The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy
Annals of Neurology, EarlyView.Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva +13 more
wiley +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
Three‐dimensional geometric morphometric analysis of diaphragmatic dome motion in COPD patients
The Anatomical Record, EarlyView.Abstract Diaphragmatic dysfunction is a hallmark of chronic obstructive pulmonary disease (COPD), especially in emphysema, where hyperinflation alters diaphragm geometry and impairs inspiratory mechanics. However, quantitative three‐dimensional (3D) assessments of diaphragmatic dome shape and motion across COPD phenotypes are limited.
José M. López‐Rey +5 more
wiley +1 more source
Nanocarriers for neuromuscular diseases
, 2019 Several nanocarriers for neuromuscular diseases are ...
manuela malatesta
core
Molecular Diagnosis and Novel Therapies for Neuromuscular Diseases
, 2020 With the development of novel targeted therapies, including exon skipping/inclusion and gene replacement therapy, the field of neuromuscular diseases has drastically changed in the last several years.
Rika Maruyama, Toshifumi Yokota
core +1 more source