Výsledky vyhledávání - "B. Estournet Mathiaud"

Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies

Publikováno v: European Journal of Neurology
European Journal of Neurology, Wiley, 2021, 28 (2), pp.660-669. ⟨10.1111/ene.14592⟩
European Journal of Neurology, 2021, 28 (2), pp.660-669. ⟨10.1111/ene.14592⟩

International audience; Background and purpose: To describe a large series of patients with α, β, and γ sarcoglycanopathies (LGMD-R3, R4, and R5) and study phenotypic correlations and disease progression. Methods: A multicentric retrospective stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bc43a507bdad0a6b1a1d290138fabb4
https://hal.archives-ouvertes.fr/hal-03141476

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Chylothorax compliquant une ponction sous-clavière contrôlé par la ventilation avec pression expiratoire positive

Autor: N Jean, T Loeb, B Estournet-Mathiaud

Publikováno v: Annales Françaises d'Anesthésie et de Réanimation. 16:527-530

We report a case of traumatic chylothorax which occurred after a right subclavian vein catheterisation. Chyle output exceeded 4 L.day-1 despite a continuous drainage of the pleural space, cessation of oral intake and mechanical ventilation. It was cu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f3809f586de1c5ad74a06fb2d0e3ac76
https://doi.org/10.1016/s0750-7658(97)83347-3

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Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms

Autor: A. Barois, Pascale Richard, B. Estournet-Mathiaud, D. Hantai, B. Eymard, Christine Ioos

Publikováno v: Neuropediatrics. 35(4)

We report the cases of 3 children with postsynaptic congenital myasthenic syndrome with acetylcholine receptor deficiency due to rapsyn deficiency. Symptoms began at the neonatal period with hypotonia, arthrogryposis, bulbar symptoms, and respiratory

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85206dd7dbdb684b09bd4874d56b9411
https://pubmed.ncbi.nlm.nih.gov/15328566

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Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study

Autor: N. Vignier, M. Chevallay, T. Mizuta, H. Hori, Pascale Guicheney, Fernando M.S. Tomé, Kristi J. Jones, Y. He, Graeme Morgan, A. Barois, B. Estournet-Mathiaud, Kathryn N. North

Publikováno v: Neurology. 57(7)

The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin alpha2 chain in muscle fibers with two antibodies, but not with four others. They identified mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83ad127971df800e68ce4b91f93b1861
https://pubmed.ncbi.nlm.nih.gov/11591858

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