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Items: 3

1.
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Kristýna Stehlíková, Daniela Skálová, Jana Zídková, Lenka Mrázová, Petr Vondráček, Radim Mazanec, Stanislav Voháňka, Jana Haberlová, Markéta Hermanová, Josef Zámečník, Ondřej Souček, Hana Ošlejšková, Nina Dvořáčková, Pavla Solařová, Lenka Fajkusová
BMC Neurol. 2014; 14: 154. Published online 2014 Aug 19. doi: 10.1186/s12883-014-0154-7
PMCID:
PMC4145250
AbstractArticlePDF–238K
2.
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
Cristina Dias, Murat Sincan, Praveen F. Cherukuri, Rosemarie Rupps, Yan Huang, Hannah Briemberg, Kathryn Selby, James C. Mullikin, Thomas C. Markello, David R. Adams, William A. Gahl, Cornelius F. Boerkoel
Hum Mutat. Author manuscript; available in PMC 2013 Apr 1.
Published in final edited form as: Hum Mutat. 2012 Apr; 33(4): 614–626. Published online 2012 Feb 28. doi: 10.1002/humu.22032
PMCID:
PMC3329376
AbstractArticlePDF–2.0M
3.
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes
Richard R Bennett, Hal E Schneider, Elicia Estrella, Stephanie Burgess, Andrew S Cheng, Caitlin Barrett, Va Lip, Poh San Lai, Yiping Shen, Bai-Lin Wu, Basil T Darras, Alan H Beggs, Louis M Kunkel
BMC Genet. 2009; 10: 66. Published online 2009 Oct 18. doi: 10.1186/1471-2156-10-66
PMCID:
PMC2781300
AbstractArticlePDF–698K

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