Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (SMN1) gene. The gene product, SMN protein, functions in RNA biosynthesis in all tissues. In humans, a nearly identical gene, SMN2, rescues an otherwise lethal phenotype by producing a small amount of full-length SMN protein. SMN2 copy number inversely correlates with disease severity. Identifying other novel biomarkers could inform clinical trial design and identify novel therapeutic targets.To identify novel candidate biomarkers associated with disease severity in SMA using unbiased proteomic, metabolomic and transcriptomic approaches.A cross-sectional single evaluation was performed in 108 chil...
<label>OBJECTIVES</label>Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease...
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mu...
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mu...
Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygo...
Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygo...
Background: The universal presence of a gene (SMN2) nearly identical to the mutated SMN1 gene respon...
The universal presence of a gene (SMN2) nearly identical to the mutated SMN1 gene responsible for Sp...
Clinical trials to test safety and efficacy of drugs for patients with spinal muscular atrophy (SMA)...
The availability of disease modifying therapies for spinal muscular atrophy (SMA) has created an urg...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous ...
Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease activity and predicting ...
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mu...
Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by insufficiency of ...
<label>OBJECTIVES</label>Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease...
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mu...
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mu...
Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygo...
Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygo...
Background: The universal presence of a gene (SMN2) nearly identical to the mutated SMN1 gene respon...
The universal presence of a gene (SMN2) nearly identical to the mutated SMN1 gene responsible for Sp...
Clinical trials to test safety and efficacy of drugs for patients with spinal muscular atrophy (SMA)...
The availability of disease modifying therapies for spinal muscular atrophy (SMA) has created an urg...
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous ...
Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease activity and predicting ...
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mu...
Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by insufficiency of ...
<label>OBJECTIVES</label>Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease...
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mu...
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mu...