Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia-Reference-Cited by-同舟云学术

Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia

Published:2022-09 Issue:9 Volume:58 Page:1145-1153
ISSN:1022-7954
Container-title:Russian Journal of Genetics
language:en
Short-container-title:Russ J Genet

Author:

Khidiyatova I. M.,Saifullina E. V.,Karunas A. S.,Akhmetgaleyeva A. F.,Kutlubaeva R. F.,Smakova L. A.,Lobov S. L.,Polyakov A. V.,Shchagina O. A.,Kadnikova V. A.,Ryzhkova O. P.,Magzhanov R. V.,Khusnutdinova E. K.

Publisher

Pleiades Publishing Ltd

Subject

Genetics

Link

https://link.springer.com/content/pdf/10.1134/S1022795422090113.pdf

Reference35 articles.

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2. Hazan, J., Fonknechten, N., Mavel, D., et al., Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia, Nat. Genet., 1999, vol. 23, no. 3, pp. 296—303. https://doi.org/10.1038/15472

3. Finsterer, J., Löscher, W., Quasthoff, S., et al., Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance, J. Neurol. Sci., 2012, vol. 318, no. 1, pp. 1—18. https://doi.org/10.1016/j.jns.2012.03.025

4. Fonknechten, N., Mavel, D., Byrne, B., et al., Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia, Hum. Mol. Genet., 2000, vol. 9, no. 4, pp. 637—644. https://doi.org/10.1093/hmg/9.4.637

5. Namekawa, M., Nelson, I., Ribai, P., et al., A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene, Neurogenetics, 2006, vol. 7, no. 2, pp. 131—132. https://doi.org/10.1007/s10048-006-0028-2

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