IZUChENIE GENETIChESKIKh FAKTOROV, VLIYaYuShchIKh NA TYaZhEST' TEChENIYa SPINAL'NOY MYShEChNOY ATROFII

Open Access Open Access
Restricted Access Subscription Access

Abstract



M A Maretina

Email: Kumi-ori3000@yandex.ru

G Yu Zheleznyakova

A A Egorova

A V Kiselev

  1. Feldkotter M., Schwarzer V., Wirth R. et al. Quantitative Analysis of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy // Am. J. Hum. Genet.- 2002.- Vol. 70, № 2.- P. 358-368.
  2. Lefebvre S., Burglen L., Reboullet S. et al. Identification and Characterization of a Spinal Muscular Atrophy-Determining Gene // Cell.- 1995.- Vol. 80, № 1.- Р. 155-165.
  3. Mailman M., Heinz J., Papp A. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2 // Genet. Med.- 2002.- Vol. 4, № 1.- P. 20-26.
  4. McAndrew P., Parsons D., Simard L. et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNt and SMNc gene copy number // Am. J. Hum. Genet.- 1997.- Vol. 60.- Р. 1411-1422.
  5. Monani U., Lorson C., Parsons D. W. et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 // Hum. Mol. Genet.- 1999.- Vol. 8, № 7.- P. 1177-1183.
  6. Prior T., Krainer A., Hua Y. et al. A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene // Am. J. Hum. Genet.- 2009.-Vol. 85.- P. 408-413.
  7. Rodrigues N.R., Owen N., Talbot K. et al. Deletions in the survival motor neuron gene on 5ql3 in autosomal recessive spinal muscular atrophy // Hum. Mol. Genet.- 1995.- Vol. 4.- Р. 631-634.
  8. Vezain M., Saugier-Veber P., Goina E. et al. A Rare SMN2 Variant in a Previously Unrecognized Composite Splicing Regulatory Element Induces Exon 7 Inclusion and Reduces the Clinical Severity of Spinal Muscular Atrophy // Human Mutation.- 2010.- Vol. 31.-P. E1110-E1125.
  9. Wirth B. An update of the Mutation Spectrum of the Survival Motor Neuron Gene (SMN1) in Autosomal Recessive Spinal Muscular Atrophy (SMA) // Human Mutation.- 2000.- Vol. 15.- P. 228-237.
  10. Wirth B., Brichta L., Hahnen E. Spinal Muscular Atrophy: From Gene to Therapy // Semin. Pediatr. Neurol.- 2006.- Vol. 13.-P. 121-131.
  11. Zerres K., Wirth B., Rudnik-Schoneborn S. Spinal muscular atrophy - clinical and genetic correlations // Neuromuscul. Disord.- 1997.- Vol. 7, № 3.- P. 202-207.

Views

Abstract - 16

PDF (Russian) - 0

Cited-By


PlumX

Refbacks

  • There are currently no refbacks.

Copyright (c) 2012 Maretina M.A., Zheleznyakova G.Y., Egorova A.A., Kiselev A.V.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies