TSEN54 mutations cause pontocerebellar hypoplasia type 5
Open Access
- 2 February 2011
- journal article
- research article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 19 (6), 724-726
- https://doi.org/10.1038/ejhg.2011.8
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Pontocerebellar hypoplasiaNeurology, 2010
- Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 GeneAmerican Journal of Human Genetics, 2009
- tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaNature Genetics, 2008
- Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar HypoplasiaAmerican Journal of Human Genetics, 2007
- Pontocerebellar hypoplasia type 2: a neuropathological updateActa Neuropathologica, 2007
- Pontocerebellar hypoplasia type 2: Variability in clinical and imaging findingsEuropean Journal of Paediatric Neurology, 2007
- Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?American Journal of Medical Genetics Part A, 2006
- Early fatal pontocerebellar hypoplasia in premature twin sistersEuropean Journal of Paediatric Neurology, 2000
- The syndrome of autosornal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2)Neurology, 1995
- Nonparametric Tests for Linkage with Dependent Sib PairsHuman Heredity, 1995