IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)-Reference-Cited by-同舟云学术

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

Published:2009-01-20 Issue:7 Volume:18 Page:1288-1300
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Guenther Ulf-Peter,Handoko Lusy,Laggerbauer Bernhard,Jablonka Sibylle,Chari Ashwin,Alzheimer Mona,Ohmer Jürgen,Plöttner Oliver,Gehring Niels,Sickmann Albert,von Au Katja,Schuelke Markus,Fischer Utz

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/18/7/1288/17248571/ddp028.pdf

Reference43 articles.

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2. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1);Grohmann;Ann. Neurol.,2003

3. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis;Guenther;Hum. Mutat.,2007

4. Neuromuscular degeneration (nmd): a mutation on mouse chromosome 19 that causes motor neuron degeneration;Cook;Mamm. Genome.,1995

5. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1);Grohmann;Hum. Mol. Genet.,2004

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