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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
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.
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.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Fernández-Eulate G, Querin G, Moore U, Behin A, Masingue M, Bassez G, Leonard-Louis S, Laforêt P, Maisonobe T, Merle PE, Spinazzi M, Solé G, Kuntzer T, Bedat-Millet AL, Salort-Campana E, Attarian S, Péréon Y, Feasson L, Graveleau J, Nadaj-Pakleza A, Leturcq F, Gorokhova S, Krahn M, Eymard B, Straub V; Jain COS Consortium; Evangelista T, Stojkovic T. Fernández-Eulate G, et al. Among authors: gorokhova s. Eur J Neurol. 2021 Jun;28(6):2092-2102. doi: 10.1111/ene.14821. Epub 2021 Apr 1. Eur J Neurol. 2021. PMID: 33715265 Free article.
61 results