Martin Krahn

Affiliations: 
2010-2014 Aix Marseille University 
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"Martin Krahn"
Mean distance: 19.56 (cluster 32)
 
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Publications

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Cerino M, Di Meglio C, Albertini F, et al. (2020) Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. Molecular Genetics & Genomic Medicine. e1277
Cerino M, Campana-Salort E, Salvi A, et al. (2020) Novel CAPN3 variant associated with an autosomal dominant calpainopathy. Neuropathology and Applied Neurobiology
Gorokhov M, Cerino M, Mortreux J, et al. (2020) A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports. Scientific Reports. 10: 6247
Mortreux J, Bacquet J, Boyer A, et al. (2019) Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. Journal of Human Genetics
Dominov JA, Uyan Ö, McKenna-Yasek D, et al. (2019) Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Annals of Clinical and Translational Neurology. 6: 642-654
Krahn M, Biancalana V, Cerino M, et al. (2018) A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing. European Journal of Human Genetics : Ejhg
Barthélémy F, Courrier S, Lévy N, et al. (2018) Dysferlin Exon 32 Skipping in Patient Cells. Methods in Molecular Biology (Clifton, N.J.). 1828: 489-496
Desvignes JP, Bartoli M, Delague V, et al. (2018) VarAFT: a variant annotation and filtration system for human next generation sequencing data. Nucleic Acids Research
Barthélémy F, Defour A, Lévy N, et al. (2018) Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet. Journal of Neuromuscular Diseases. 5: 21-28
Ben Yaou R, Hubert A, Nelson I, et al. (2017) Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. Neurology. Genetics. 3: e208
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