Journal of Neuromuscular Diseases, 2019 Objective: Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease caused by loss of the SMN1 gene. Based on randomized clinical trials in children with SMA type 1 and 2, Nusinersen has been approved as the first treatment
M. Walter +10 more
semanticscholar +1 more source
Vegetation of the depressions with Eleocharis quinqueflora in spring fens in Slovenia
Acta Biologica Slovenica, 2010 During the investigations of wetlands in Slovenia over the last decade specific plant communities in spring fens were found. Stands with species Eleocharis quinqueflora occurring in depressions inundated with standing and/or running water were found in the
Igor Zelnik +2 more
doaj +1 more source
Gastric perforation and pancreatitis manifesting after an inadvertent nissen fundoplication in a patient with superior mesenteric artery syndrome. [PDF]
, 2009 Superior mesenteric artery (SMA) syndrome is an uncommon but well-recognized clinical entity. It can lead to proximal small bowel obstruction and severe morbidity and mortality in lieu of late diagnosis and concomitant existing comorbidities. We report a
Estrada, JJ +5 more
core +3 more sources
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.
Journal of Clinical Investigation, 2019 BACKGROUNDSpinal muscular atrophy (SMA) is caused by deficient expression of survival motor neuron (SMN) protein. New SMN-enhancing therapeutics are associated with variable clinical benefits.
Daniel M. Ramos +21 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
Electrocardiographic (ECG) criteria for determining left ventricular mass in young healthy men; data from the LARGE Heart study [PDF]
, 2009 Background: Doubts remain over the use of the ECG in identifying those with increased left ventricular (LV) mass. This is especially so in young individuals, despite their high prevalence of ECG criteria for LV hypertrophy.
Montgomery, HE +5 more
core +2 more sources
Experimental tests and finite element simulations of a new SMA-steel damper
Smart materials and structures (Print), 2020 Owing to their outstanding recentering capability, shape memory alloy (SMA) dampers are emerging as promising passive dampers for seismic applications.
C. Qiu +4 more
semanticscholar +1 more source
Unified molecular field theory of nematic, smectic-A, and smectic-C phases [PDF]
, 2013 A unified mean-field molecular theory of nematic (NU), smectic A (SmA), and smectic C (SmC) liquid crystal phases, composed of uniaxial nonpolar molecules, is developed taking into account the variation of all orientational and translational order ...
C. G. Gray +4 more
core +1 more source
NFL is a marker of treatment response in children with SMA treated with nusinersen
Journal of Neurology, 2019 BackgroundRecently, the anti-sense oligonucleotide drug nusinersen was approved for spinal muscular atrophy (SMA) and our aim was to find a response marker for this treatment.MethodsTwelve children with SMA type 1 and two copies of the SMN2 gene were ...
B. Olsson +9 more
semanticscholar +1 more source
Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]
, 2018 Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne +14 more
core +2 more sources