Improvement of Peak Cough Flow After the Application of a Mechanical In-exsufflator in Patients With Neuromuscular Disease and Pneumonia: A Pilot Study [PDF]
Annals of Rehabilitation Medicine, 2018 Objective To investigate and demonstrate persistent increase of peak cough flow after mechanical in-exsufflator application, in patients with neuromuscular diseases and pneumonia.
Ji Ho Jung +6 more
doaj +1 more source
The era of cryptic exons: implications for ALS-FTD
Molecular Neurodegeneration, 2023 TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises from the nucleus to the cytoplasm in a range of neurodegenerative disorders.
Puja R. Mehta +3 more
doaj +1 more source
Biomedicines, 2023 At 2.3 megabases in length, the dystrophin gene is enormous: transcription of a single mRNA requires approximately 16 h. Principally expressed in skeletal muscle, the dystrophin protein product protects the muscle sarcolemma against contraction-induced ...
John C. W. Hildyard, Richard J. Piercy
doaj +1 more source
Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy [PDF]
, 2012 Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting primarily from the degeneration and loss of lower motor neurons.
A Lionikas +48 more
core +6 more sources
Open Medicine, 2021 The purpose of this retrospective cross-sectional study was to examine the degrees of the cervical disc degeneration and the parameters of cervical sagittal balance in plain radiographs, representing cervical lordosis or head posture in subjects with ...
Lee Hyo Jeong +2 more
doaj +1 more source
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
core +2 more sources
Cells, 2023 Phospholamban is involved in the regulation of the activity and storage of calcium in cardiac muscle. Several mutations have been identified in the PLN gene causing cardiac disease associated with arrhythmogenic and dilated cardiomyopathy.
Simona Zanotti +14 more
doaj +1 more source
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]
, 2016 Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J. +9 more
core +3 more sources
Neuromuscular Diseases and Bone
Frontiers in Endocrinology, 2019 Neuromuscular diseases (NMDs) are inherited or acquired conditions affecting skeletal muscles, motor nerves, or neuromuscular junctions. Most of them are characterized by a progressive damage of muscle fibers with reduced muscle strength, disability, and poor health-related quality of life of affected patients.
Iolascon G +4 more
openaire +5 more sources
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
, 2015 Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources