Cognitive impairment in neuromuscular diseases: A systematic review
Neurology International, 2018 Neuromuscular diseases are multifactorial pathologies characterized by extensive muscle fiber damage that leads to the activation of satellite cells and to the exhaustion of their pool, with consequent impairment of neurobiological aspects, such as ...
M. Orsini +11 more
semanticscholar +1 more source
Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew +11 more
wiley +1 more source
Disease Models & Mechanisms, 2020 Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's Disease, is a late-onset X-linked progressive neuromuscular disease, which predominantly affects males.
Anna L. Gray +6 more
doaj +1 more source
A Splicing Mutation in the Novel Mitochondrial Protein DNAJC11 Causes Motor Neuron Pathology Associated with Cristae Disorganization, and Lymphoid Abnormalities in Mice [PDF]
, 2014 Mitochondrial structure and function is emerging as a major contributor to neuromuscular disease, highlighting the need for the complete elucidation of the underlying molecular and pathophysiological mechanisms. Following a forward genetics approach with
Douni, E +9 more
core +1 more source
Advanced therapeutic strategy for hereditary neuromuscular diseases [PDF]
, 2021 Wuh‐Liang Hwu +3 more
openalex +1 more source
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian +9 more
wiley +1 more source
Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects
Brain Sciences, 2020 Hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy is a progressive disease that is transmitted as an autosomal dominant trait and characterized by multiple organ failure, including axonal sensory-motor neuropathy, cardiac ...
Massimo Russo +5 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin +11 more
wiley +1 more source
Resistance Exercise Training in McArdle Disease: Myth or Reality?
Case Reports in Neurological Medicine, 2018 McArdle disease is a metabolic myopathy mainly characterised by symptom onset during physical activities or isometric muscle contraction. Resistance (also termed strength) training is a type of physical exercise focusing on the use of resistance (e.g ...
Aleksandra Pietrusz +2 more
doaj +1 more source
Altered Function of the DnaJ Family Cochaperone DNJ-17 Modulates Locomotor Circuit Activity in a Caenorhabditis elegans Seizure Model. [PDF]
, 2016 The highly conserved cochaperone DnaJ/Hsp40 family proteins are known to interact with molecular chaperone Hsp70, and can regulate many cellular processes including protein folding, translocation, and degradation.
Jin, Yishi, Takayanagi-Kiya, Seika
core +2 more sources