Concepedia

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

Luísa Panadés‐de Oliveira, Claudia Rodríguez-López, Diana Cantero, María del Mar Marcos Toledano, Ana Fernández‐Marmiesse, Jesús Esteban‐Pérez, A. Hernández Laín, Cristina Domínguez‐González

Journal of Neurology · 2019 · 22 citations · 19 references

DOI

Concepts

References

19

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

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Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

Abel González-Pérez, Núria López-Bigas · The American Journal of Human Genetics · 2011 · 780 citations · Full text

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Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Eugenio Mercuri, Anne Lampe, Joanna Allsop et al. · Neuromuscular Disorders · 2005 · 184 citations

, , +13

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Anne Katrin Lampe · Journal of Medical Genetics · 2005 · 139 citations · Full text

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Early onset collagen VI myopathies: Genetic and clinical correlations

Laura Briñas, Pascale Richard, Susana Quijano‐Roy et al. · Annals of Neurology · 2010 · 134 citations · Full text

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