Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

Published:2014-08-23 Issue:11 Volume:261 Page:2165-2169
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Halevy Ayelet,Lerer Israela,Cohen Rony,Kornreich Liora,Shuper Avinoam,Gamliel Moria,Zimerman Bat-El,Korabi Isam,Meiner Vardiella,Straussberg Rachel,Lossos Alexander

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-014-7457-x.pdf

Reference8 articles.

1. Eggens VRC, Barth PG, Niermeijer J-MF, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T et al (2014) EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype–phenotype correlations. Orphanet J Rare Dis 9:23. doi: 10.1186/1750-1172-9-23

2. Fink JK (2009) Hereditary spastic paraplegia overview. GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1509/ . Accessed Feb 2014

3. Tomecki R, Kristiansen MS, Lykke-Andersen S, Chlebowski A, Larsen KM, Szczesny RJ, Drazkowska K, Pastula A, Andersen JS, Stepien PP et al (2010) The human core exosome interacts with differentially localized processive RNases: hDIS3 and hDIS3L. EMBO J 29:2342–2357

4. Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J et al (2013) Pontocerebellar hypoplasia type 1. Clinical spectrum and relevance of EXOSC3 mutations. Neurology 80:438–446

5. Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B, Gualandi F, Ferlini A, Bertini E, Wei W (2013) Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics 14:247–250

Cited by 38 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. Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation;2023-10-19

2. Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review;Cureus;2023-05-19

3. What connects splicing of transfer RNA precursor molecules with pontocerebellar hypoplasia?;BioEssays;2022-12-14

4. EXOSC9 mutation causes pontocerebellar hypoplasia type 1D (PCH1D): Refining the phenotype and literature review;Gene Reports;2022-06

5. Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature;Pediatric Neurology;2022-05