Associated Papers
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
[SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].
Unknown Author
Genetika, 2015
Advances in therapeutic development for spinal muscular atrophy.
Howell MD et al.
Future Medicinal Chemistry, 2014
Regulation of SMN protein stability.
Burnett BG et al.
Molecular and Cellular Biology, 2009
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.
Rossoll W et al.
Results and Problems in Cell Differentiation, 2009
Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy.
Beattie CE et al.
Journal of Child Neurology, 2007
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Zapletalová E et al.
Neuromuscular Disorders : Nmd, 2007
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.
Carrel TL et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus.
Hua Y et al.
Cellular and Molecular Life Sciences : Cmls, 2004
Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S et al.
Expert Review of Molecular Diagnostics, 2004
A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy.
Young PJ et al.
The Journal of Biological Chemistry, 2002
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
Spinal muscular atrophy: untangling the knot?
Biros I et al.
Journal of Medical Genetics, 1999
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
Parsons DW et al.
American Journal of Human Genetics, 1998
SMN oligomerization defect correlates with spinal muscular atrophy severity.
Lorson CL et al.
Nature Genetics, 1998