Results 51 to 60 of about 121,613 (384)
Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children
Annals of Clinical and Translational Neurology, 2021 The aim of this study was to evaluate neurofilament light chain as blood biomarker for disease activity in children and adolescents with different types of spinal muscular atrophy (SMA) and establish pediatric reference values.
E. Nitz +6 more
semanticscholar +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
Update on Biomarkers in Spinal Muscular Atrophy
Biomarker Insights, 2021 The availability of disease modifying therapies for spinal muscular atrophy (SMA) has created an urgent need to identify clinically meaningful biomarkers. Biomarkers present a means to measure and evaluate neurological disease across time.
Megan G Pino, Kelly A. Rich, S. Kolb
semanticscholar +1 more source
Seminars in Neurology, 2001 The spinal muscular atrophies are a group of mostly inherited disorders selectively affecting the lower motor neuron. There is a wide degree of clinical and genetic heterogeneity that must be taken into account when giving prognostic information. Autosomal recessive childhood proximal SMA is the commonest form and is due to mutations in a gene encoding
Talbot, K, Davies, K
openaire +3 more sources
The efficacy and safety of nusinersen within the expanded access program in Russia
Нервно-мышечные болезни, 2020 Introduction. Spinal muscular atrophy is a severe neuromuscular disease characterized by rapid progression of muscle weakness and early death. Pathogenetic therapy with nusinersen can significantly change the course of the disease and enable the patient ...
S. B. Artemieva +12 more
doaj +1 more source
The social-economic burden of spinal muscular atrophy in Russia
Фармакоэкономика, 2021 Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. S. Kolbin +7 more
doaj +1 more source
A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]
, 2012 Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie +2 more
core +1 more source
Journal of Children's Orthopaedics, 2022 Purpose: The aim of this article was to compare longitudinal changes in hip morphology in cerebral palsy (hypertonic) and spinal muscular atrophy (hypotonic) to examine the influence of muscle tone on development of hip displacement.
A. C. Ulusaloğlu +5 more
semanticscholar +1 more source
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli +49 more
core +1 more source
Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]
, 2020 The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David +6 more
core +1 more source