Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration-Reference-Cited by-同舟云学术

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

Published:2012-04-29 Issue:6 Volume:44 Page:704-708
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Wan Jijun,Yourshaw Michael,Mamsa Hafsa,Rudnik-Schöneborn Sabine,Menezes Manoj P,Hong Ji Eun,Leong Derek W,Senderek Jan,Salman Michael S,Chitayat David,Seeman Pavel,von Moers Arpad,Graul-Neumann Luitgard,Kornberg Andrew J,Castro-Gago Manuel,Sobrido María-Jesús,Sanefuji Masafumi,Shieh Perry B,Salamon Noriko,Kim Ronald C,Vinters Harry V,Chen Zugen,Zerres Klaus,Ryan Monique M,Nelson Stanley F,Jen Joanna C

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2254.pdf

Reference47 articles.

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3. Norman, R.M. Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch. Dis. Child. 36, 96–101 (1961).

4. Goutières, F., Aicardi, J. & Farkas, E. Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. J. Neurol. Neurosurg. Psychiatry 40, 370–378 (1977).

5. de Leén, G.A., Grover, W.D. & D'Cruz, C.A. Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy. Acta Neuropathol. 63, 282–286 (1984).

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