Associated Papers
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
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
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.
Dai M et al.
Molecular Genetics and Genomics : Mgg, 2022
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Blasco-Pérez L et al.
Human Mutation, 2021
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
Bai J et al.
Journal of Molecular Neuroscience : Mn, 2021
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.
Bowen BM et al.
Frontiers in Neurology, 2021
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.
Spring AM et al.
Frontiers in Molecular Neuroscience, 2019
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
Sneha P et al.
Metabolic Brain Disease, 2018
Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates.
Maretina MA et al.
Current Genomics, 2018
Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.
Prior TW et al.
Current Protocols in Human Genetics, 2016
[SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].
Unknown Author
Genetika, 2015
SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.
Praveen K et al.
Plos Genetics, 2014
Advances in therapeutic development for spinal muscular atrophy.
Howell MD et al.
Future Medicinal Chemistry, 2014
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
Nölle A et al.
Human Molecular Genetics, 2011
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Burghes AH et al.
Nature Reviews. Neuroscience, 2009
Regulation of SMN protein stability.
Burnett BG et al.
Molecular and Cellular Biology, 2009
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Alías L et al.
Human Genetics, 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
Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies.
Lorson MA et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2008
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.
Gavrilina TO et al.
Human Molecular Genetics, 2008
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.
Brichta L et al.
Human Genetics, 2008
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
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O et al.
Human Mutation, 2004
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 genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
Cuscó I et al.
Human Mutation, 2003
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S et al.
Human Genetics, 2002
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
The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization.
Le TT et al.
Neurogenetics, 2000
The role of SMN in spinal muscular atrophy.
Jablonka S et al.
Journal of Neurology, 2000
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
Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems.
Charroux B et al.
The Journal of Cell Biology, 1999
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
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis.
Patrizi AL et al.
European Journal of Human Genetics : Ejhg, 1999
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