Next generation sequencing for molecular diagnosis of neuromuscular diseases-Reference-Cited by-同舟云学术

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Published:2012-04-18 Issue:2 Volume:124 Page:273-283
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Vasli Nasim,Böhm Johann,Le Gras Stéphanie,Muller Jean,Pizot Cécile,Jost Bernard,Echaniz-Laguna Andoni,Laugel Vincent,Tranchant Christine,Bernard Rafaelle,Plewniak Frédéric,Vicaire Serge,Levy Nicolas,Chelly Jamel,Mandel Jean-Louis,Biancalana Valérie,Laporte Jocelyn

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-012-0982-8

Reference32 articles.

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2. Desmet FO, Hamroun D, Lalande M et al (2009) Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67

3. Emery AE (1991) Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord 1:19–29

4. Ge D, Ruzzo EK, Shianna KV et al (2011) SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics 27:1998–2000

5. Hackman P, Vihola A, Haravuori H et al (2002) Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 71:492–500

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