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Refining NGS diagnosis of muscular disorders.
Cerino M, Salort-Campana E, Gorokhova S, Sevy A, Bonello-Palot N, Levy N, Attarian S, Bartoli M, Krahn M. Cerino M, et al. J Neurol Neurosurg Psychiatry. 2021 Feb;92(2):223-225. doi: 10.1136/jnnp-2018-319254. Epub 2020 Sep 15. J Neurol Neurosurg Psychiatry. 2021. PMID: 32934002 No abstract available.
Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, Maues de Paula A, Figarella-Branger D, Lagarde A, Desvignes JP, Béroud C, Attarian S, Levy N, Bartoli M, Krahn M, Campana-Salort E, Pouget J. Sevy A, et al. Among authors: cerino m. J Neurol Neurosurg Psychiatry. 2016 Mar;87(3):340-2. doi: 10.1136/jnnp-2014-309663. Epub 2015 Mar 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25783436 No abstract available.
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM. Ben Yaou R, et al. Among authors: cerino m. Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264399 Free PMC article.
[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].
Perrin A, Latour P, Procaccio V, Jardel C, Cérino M, Bonne G, Salort-Campana E, Urtizberea JA, Pouget J, Krahn M, Cossée M. Perrin A, et al. Among authors: cerino m. Med Sci (Paris). 2018 Nov;34 Hors série n°2:20-22. doi: 10.1051/medsci/201834s206. Epub 2018 Nov 12. Med Sci (Paris). 2018. PMID: 30418140 Free article. French. No abstract available.
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M. Krahn M, et al. Among authors: cerino m. Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552423 Free PMC article.
Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.
Nguyen K, Roche S, Donal E, Odent S, Eicher JC, Faivre L, Millat G, Salgado D, Desvignes JP, Lavoute C, Haentjens J, Consolino É, Janin A, Cerino M, Réant P, Rooryck C, Charron P, Richard P, Casalta AC, Michel N, Magdinier F, Béroud C, Lévy N, Habib G. Nguyen K, et al. Among authors: cerino m. Circ Genom Precis Med. 2019 May;12(5):e002500. doi: 10.1161/CIRCGEN.119.002500. Circ Genom Precis Med. 2019. PMID: 31112424 Free article. No abstract available.
68 results