Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.

[1]  Y. Tohyama,et al.  Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients , 2014, Brain and Development.

[2]  G. Battaglia,et al.  Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal‐survival of motor neuron , 2012, Journal of neurochemistry.

[3]  Gunadi,et al.  A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins , 2007, Journal of Neurology.

[4]  G. Battaglia,et al.  Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis , 2007, Proceedings of the National Academy of Sciences.

[5]  Feng Pan,et al.  Active Transport of the Survival Motor Neuron Protein and the Role of Exon-7 in Cytoplasmic Localization , 2003, The Journal of Neuroscience.

[6]  T. Wienker,et al.  Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. , 2002, American journal of human genetics.

[7]  B. Wirth An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) , 2000, Human mutation.

[8]  C. Lorson,et al.  SMN oligomerization defect correlates with spinal muscular atrophy severity , 1998, Nature Genetics.

[9]  J. Weissenbach,et al.  Identification and characterization of a spinal muscular atrophy-determining gene , 1995, Cell.

[10]  T. Crawford,et al.  The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy , 1995, Cell.

[11]  T. Munsat,et al.  International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany) , 1992, Neuromuscular Disorders.