Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients-Reference-Cited by-同舟云学术

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

Published:2012-05-08 Issue:1 Volume:36 Page:43-53
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Cassandrini Denise,Cilio Maria Roberta,Bianchi Marzia,Doimo Mara,Balestri Martina,Tessa Alessandra,Rizza Teresa,Sartori Geppo,Meschini Maria Chiara,Nesti Claudia,Tozzi Giulia,Petruzzella Vittoria,Piemonte Fiorella,Bisceglia Luigi,Bruno Claudio,Dionisi-Vici Carlo,D’Amico Adele,Fattori Fabiana,Carrozzo Rosalba,Salviati Leonardo,Santorelli Filippo M.,Bertini Enrico

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-012-9487-9

Reference35 articles.

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2. Antonellis A, Green ED (2008) The role of aminoacyl-tRNA synthetases in genetic diseases. Annu Rev Genomics Hum Genet 9:87–107

3. Ben-Zeev B, Hoffman C, Lev D et al (2003) Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. J Med Genet 40:e96

4. Brown MV, Reader JS, Tzima E (2010) Mammalian aminoacyl-tRNA synthetases: cell signaling functions of the protein translation machinery. Vasc Pharmacol 52:21–26

5. Budde BS, Namavar Y, Barth PG et al (2008) tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 40:1113–1118

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