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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Vecten M, Pion E, Bartoli M, Morales RJ, Sternberg D, Rendu J, Stojkovic T, Bourdain CA, Métay C, Richard I, Cerino M, Milh M, Campana-Salort E, Gorokhova S, Levy N, Latypova X, Bonne G, Biancalana V, Petit F, Molon A, Perrin A, Laforêt P, Attarian S, Krahn M, Cossée M. Vecten M, et al. Among authors: gorokhova s. Int J Mol Sci. 2022 Jul 31;23(15):8506. doi: 10.3390/ijms23158506. Int J Mol Sci. 2022. PMID: 35955641 Free PMC article.
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: gorokhova s. 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.
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Cerino M, Gorokhova S, Laforet P, Ben Yaou R, Salort-Campana E, Pouget J, Attarian S, Eymard B, Deleuze JF, Boland A, Behin A, Stojkovic T, Bonne G, Levy N, Bartoli M, Krahn M. Cerino M, et al. Among authors: gorokhova s. Muscle Nerve. 2017 Nov;56(5):993-997. doi: 10.1002/mus.25638. Epub 2017 Apr 7. Muscle Nerve. 2017. PMID: 28256728
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M, Campana-Salort E, Salvi A, Cintas P, Renard D, Juntas Morales R, Tard C, Leturcq F, Stojkovic T, Bonello-Palot N, Gorokhova S, Mortreux J, Maues De Paula A, Lévy N, Pouget J, Cossée M, Bartoli M, Krahn M, Attarian S. Cerino M, et al. Among authors: gorokhova s. Neuropathol Appl Neurobiol. 2020 Oct;46(6):564-578. doi: 10.1111/nan.12624. Epub 2020 Jun 10. Neuropathol Appl Neurobiol. 2020. PMID: 32342993
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. Among authors: gorokhova s. 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.
65 results