Concepedia

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

Roberta Biancheri, Denise Cassandrini, Francesca Pinto, Rosanna Trovato, Maja Di Rocco, Marisol Mirabelli-Badenier, Marina Pedemonte, Chiara Panicucci, Holger Trucks, Thomas Sander,

Journal of Neurology · 2013 · 38 citations · 16 references

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References

16

Reconstitution, Activities, and Structure of the Eukaryotic RNA Exosome

Quansheng Liu, Jaclyn C. Greimann, Christopher D. Lima · Cell · 2006 · 543 citations · Full text

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The human core exosome interacts with differentially localized processive RNases: hDIS3 and hDIS3L

Rafał Tomecki, Maiken Søndergaard Kristiansen, Søren Lykke‐Andersen et al. · The EMBO Journal · 2010 · 273 citations · Full text

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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa et al. · Nature Genetics · 2012 · 262 citations · Full text

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Yasmin Namavar, P. G. Barth, Paul R. Kasher et al. · Brain · 2010 · 223 citations · Full text

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Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

Paul Renbaum, Efrat Kellerman, Ranit Jaron et al. · The American Journal of Human Genetics · 2009 · 194 citations · Full text

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