Concepedia

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1

Vincent Huin, Francis Vasseur, Susanna Schraen‐Maschke, Claire‐Marie Dhaenens, Patrick Devos, Kathy Dupont, Nicolas Sergeant, Luc Buée, Arnaud Lacour, Hélène Hofmann‐Radvanyi,

Journal of Neurology · 2012 · 14 citations · 21 references

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21

Haploview: analysis and visualization of LD and haplotype maps

Jeffrey C. Barrett, Ben Fry, Julian Maller et al. · Bioinformatics · 2004 · 14.7K citations · Full text

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Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

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Monte Carlo tests for associations between disease and alleles at highly polymorphic loci

Pak C. Sham, David Curtis · Annals of Human Genetics · 1995 · 916 citations

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Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing

Rajesh S. Savkur, Gopal K. Singh, Anne V. Philips et al. · Molecular Cell · 2002 · 615 citations · Full text

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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

Xiaoyan Lin, Jill W. Miller, Ami Mankodi et al. · Human Molecular Genetics · 2006 · 508 citations · Full text

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