134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005Naarden, The Netherlands-Reference-Cited by-同舟云学术

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy11–13 February 2005Naarden, The Netherlands

Published:2005-11 Issue:11 Volume:15 Page:802-816
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Bertini E.,Burghes A.,Bushby K.,Estournet-Mathiaud B.,Finkel R.S.,Hughes R.A.C.,Iannaccone S.T.,Melki J.,Mercuri E.,Muntoni F.,Voit T.,Reitter B.,Swoboda K.J.,Tiziano D.,Tizzano E.,Topaloglu H.,Wirth B.,Zerres K.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference59 articles.

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2. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy;Feldkotter;Am J Hum Genet,2002

3. Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1;Helmken;Hum Genet,2003

4. Lorson CL, Androphy EJ. 2000. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 9:259-265.

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