Associated Papers
The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA).
Detering NT et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y et al.
Human Mutation, 2005
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Wirth B
Human Mutation, 2000
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
Wirth B et al.
American Journal of Human Genetics, 1999
Select a paper to view details