Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Eléonore Sizun"'
Autor:
Alexis Casciato, Lola Bianchi, Manon Reverdy, Fanny Joubert, Roman Delucenay-Clarke, Sandrine Parrot, Nélina Ramanantsoa, Eléonore Sizun, Boris Matrot, Christian Straus, Thomas Similowski, Florence Cayetanot, Laurence Bodineau
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionCongenital Central Hypoventilation Syndrome, a rare disease caused by PHOX2B mutation, is associated with absent or blunted CO2/H+ chemosensitivity due to the dysfunction of PHOX2B neurons of the retrotrapezoid nucleus. No pharmacological
Externí odkaz:
https://doaj.org/article/ba7758123ac442d6a1b7d1f4bbea29fb
Autor:
Boris Matrot, Gabriel Pitollat, Maud Ringot, Christophe Delclaux, Stéphane Dauger, Jorge Gallego, Thomas Bourgeois, Marie-Pia d'Ortho, Laura Cardoit, Muriel Thoby-Brisson, Amélia Madani, Nelina Ramanantsoa, Eléonore Sizun
Publikováno v:
American Journal of Respiratory and Critical Care Medicine
American Journal of Respiratory and Critical Care Medicine, 2021, 204 (10), pp.1200-1210. ⟨10.1164/rccm.202104-0887OC⟩
American Journal of Respiratory and Critical Care Medicine, 2021, 204 (10), pp.1200-1210. ⟨10.1164/rccm.202104-0887OC⟩
RationaleCongenital Central Hypoventilation Syndrome (CCHS) is characterized by life-threatening sleep hypoventilation, and is caused by PHOX2B gene mutations, most frequently the PHOX2B27Ala/+ mutation, with patients requiring lifelong ventilatory s
Serotonin, Etonogestrel and breathing activity in murine Congenital Central Hypoventilation Syndrome
Autor:
Alexis Casciato, Lola Bianchi, Fanny Joubert, Roman Delucenay-Clarke, Sandrine Parrot, Nélina Ramanantsoa, Eléonore Sizun, Boris Matrot, Christian Straus, Thomas Similowski, Florence Cayetanot, Laurence Bodineau
Congenital Central Hypoventilation Syndrome, a rare disease caused by PHOX2B mutation, is associated with absent or blunted CO2/H+ chemosensitivity due to the dysfunction of PHOX2B neurons of the retrotrapezoid nucleus. No pharmacological treatment i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b180a41541adaf0a47376c0806ad3f49
https://doi.org/10.1101/2022.04.19.488470
https://doi.org/10.1101/2022.04.19.488470
Autor:
L. Bodineau, Geneviève Gourdon, A. Huguet, Maud Ringot, Eléonore Sizun, Jorge Gallego, F. Cayetanot, A. Madani, Thomas Bourgeois, Nelina Ramanantsoa, Boris Matrot
Publikováno v:
Revue des Maladies Respiratoires. 38:593-594
Introduction La dystrophie myotonique de type 1 ou maladie de Steinert est une maladie genetique autosomale dominante caracterisee par la repetition de CTG dans une region non traduite du gene DMPK (DM proteine kinase). La forme congenitale est marqu
Autor:
Nelina Ramanantsoa, Boris Matrot, Eléonore Sizun, Christophe Delclaux, Maud Ringot, M.-P. D’ortho, A. Madani, Thomas Bourgeois, Jorge Gallego, Stéphane Dauger
Publikováno v:
Revue des Maladies Respiratoires. 38:593
Introduction Le syndrome d’hypoventilation alveolaire centrale congenitale se manifeste par l’hypoventilation au cours du sommeil et la perte de la chemosensibilite au CO2. Il est cause par des mutations a expansion d’alanine du facteur de tran