Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment
Annals of Clinical and Translational Neurology, 2021 To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q‐associated ...
M. Freigang +20 more
semanticscholar +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
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
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
core +2 more sources
Developmental Medicine & Child Neurology, 2021 This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).
Arlene M. D'Silva +4 more
semanticscholar +1 more source
Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
Annals of Clinical and Translational Neurology, 2022 Objective Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated.
Camilla Binz +20 more
doaj +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
New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges
Journal of Clinical Medicine, 2020 Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability.
S. Messina, M. Sframeli
semanticscholar +1 more source
Rehabilitation in spinal muscular atrophy
Medycyna Ogólna i Nauki o Zdrowiu, 2021 Introduction and objective Spinal Muscular Atrophy (SMA) is a disease of the nervous system caused by the degeneration of motor neurons in the spinal cord. The disease is caused by a homozygous deletion of the motor neuron survival gene (SMN1),
Joanna Iłżecka
doaj +1 more source
Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes [PDF]
, 2017 Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
Blaauw, Bert +18 more
core +3 more sources