EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement-Reference-Cited by-同舟云学术

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

Published:2013-04-07 Issue:7 Volume:260 Page:1866-1870
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Biancheri Roberta,Cassandrini Denise,Pinto Francesca,Trovato Rosanna,Di Rocco Maja,Mirabelli-Badenier Marisol,Pedemonte Marina,Panicucci Chiara,Trucks Holger,Sander Thomas,Zara Federico,Rossi Andrea,Striano Pasquale,Minetti Carlo,Santorelli Filippo Maria

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-013-6896-0.pdf

Reference23 articles.

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3. Rudnik-Schöneborn S, Sztriha L, Aithala GR et al (2003) Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A 117A:10–17

4. Lev D, Michelson-Kerman M, Vinkler C, Blumkin L, Shalev SA, Lerman-Sagie T (2008) Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration—a late-onset variant of PCH-1? Eur J Paediatr Neurol 12:97–101

5. Renbaum P, Kellerman E, Jaron R et al (2009) Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet 85:281–289

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

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