Genetic counseling for cystic fibrosis: A basic model with new challenges

Autor: Bieth, E. ^*, Nectoux, J., Girardet, A., Gruchy, N., Mittre, H., Laurans, M., Guenet, D., Brouard, J., Gerard, M.

Publikováno v: In Archives de pédiatrie February 2020 27 Supplement 1:S30-S34

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LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

Autor: Ben Yaou, R., Stojkovic, T., Cerino, Mathieu, Duval, F., Juntas-Morales, R., Nelson, I., Beuvin, M., Lacene, E., Sternberg, D., Nectoux, J., Martin-Negrier, M., Bartoli, Marc, Cossee, M., Leturcq, F., Sole, G., Krahn, Martin, Romero, N., Eymard, B., Bonne, Gisèle

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.S140, 2019, ⟨10.1016/j.nmd.2019.06.366⟩

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5ea946589dfbd852435a76203212229d
https://hal.science/hal-03973478

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Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies

Autor: Malfatti, E., Avila-Polo, R., Lornage, X., Nelson, I., Nectoux, J., Bohm, J., Hedberg-Oldfors, C., Eymard, B., Monges, S., Lubieniecki, F., Brochier, G., Madelaine, A., Labasse, C., Taratuto, A., Udd, B., Leturcq, F., Bonne, Gisèle, Oldfors, A., Laporte, J., Romero, N.

Publikováno v: 23rd International Annual Congress of the World-Muscle-Society (WMS)
23rd International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza, Argentina. Neuromuscular Disorders, 28, pp.S104-S105, 2018, ⟨10.1016/j.nmd.2018.06.289⟩

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3515::6c3987de795772bcfb1afb790f42e24e
https://hal.science/hal-03973451