Heterozygous carrier rate for type I–IV proximal spinal muscular atrophy in Chuvashes, Udmurts, and residents of the Moscow region-Reference-Cited by-同舟云学术

Heterozygous carrier rate for type I–IV proximal spinal muscular atrophy in Chuvashes, Udmurts, and residents of the Moscow region

Published:2012-08 Issue:8 Volume:48 Page:838-845
ISSN:1022-7954
Container-title:Russian Journal of Genetics
language:en
Short-container-title:Russ J Genet

Author:

Zabnenkova V. V.,Dadali E. L.,Spiridonova M. G.,Zinchenko R. A.,Polyakov A. V.

Publisher

Pleiades Publishing Ltd

Subject

Genetics

Link

http://link.springer.com/content/pdf/10.1134/S1022795412080091.pdf

Reference32 articles.

1. Pearn, J.H., Classification of Spinal Muscular Atrophies, Lancet, 1980, pp. 919–922.

2. Dubowitz, V., Muscle Disorders in Childhood, WB Saunders, 1995, 2nd edition.

3. Prior, T.W. and Russman, B.S., Spinal Muscular Atrophy, Gene Review, 2003. http://www.ncbi.nlm.nih.gov/books/NBK1352 .

4. Russman, B.S., Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity, J. Child Neurol., 2007, vol. 22, no. 8, pp. 946–951.

5. Crawford, T.O., Spinal Muscular Atrophies, in Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach, Jones, H.R., De Vivo, D.C. and Darras, B.T., Eds., Philadelphia: Butterworth-Heinemann, 2003, chapter 8, pp. 145–166.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg;International Journal of Neonatal Screening;2024-01-25

2. Detection of SMN1 loss with PCR-based screening test;Bulletin of Russian State Medical University;2023-06

3. Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation;International Journal of Neonatal Screening;2023-05-16

4. SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1;Russian Journal of Genetics;2015-09