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Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

Autor: Beuvin, M., Lacène, E., Labasse, C., Brochier, G., Madelaine, A., Ben Yaou, R., Stojkovic, T., Sole, G., Juntas-Morales, R., Martin-Negrier, M., Duval, F., Nelson, I., Nectoux, J., Leturcq, F., Cossée, M., Sternberg, D., Eymard, B., Bonne, Gisèle, Evangelista, T., Romero, N.

Publikováno v: 24th International Annual Congress of the World-Muscle-Society (WMS)
24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S138, 2019, ⟨10.1016/j.nmd.2019.06.359⟩

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3515::6a702f7c96c45e1bfed94338b0cb420d
https://hal.science/hal-03973473

Human mitochondrial DNA sequencing by Oxford Nanopore MinION

Autor: Trimouille, A., Mouden, Charlotte, Boury, Christophe, Courreges, A., Fergelot, P., Martin-Negrier, M.

Publikováno v: 51. Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with European Meeting on Psychosocial Aspects of Genetics (EMPAG)
51. Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with European Meeting on Psychosocial Aspects of Genetics (EMPAG), Jun 2018, Milan, Italy. Nature Publishing Group, European Journal of Human Genetics, 27 (Supplement), 688 p., 2019

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::657d2734ffa17b457e51e3407d5723bf
https://hal.inrae.fr/hal-02736180

Fasciitis secondary to systemic necrotizing vasculitis.

Autor: Prot-Leurent, C, Martin-Negrier, M -L, Lazaro, E, Delbrel, X, Viallard, J -F

Publikováno v: QJM: An International Journal of Medicine; Mar2022, Vol. 115 Issue 3, p164-166, 3p