Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Michel, Renouil"'
Autor:
Marie Hully, Christine Barnerias, Delphine Chabalier, Sophie Le Guen, Virginie Germa, Elodie Deladriere, Catherine Vanhulle, Jean-Marie Cuisset, Brigitte Chabrol, Claude Cances, Carole Vuillerot, Caroline Espil, Michele Mayer, Marie-Christine Nougues, Pascal Sabouraud, Jeremie Lefranc, Vincent Laugel, Francois Rivier, Ulrike Walther Louvier, Julien Durigneux, Sylvia Napuri, Catherine Sarret, Michel Renouil, Alice Masurel, Marcel-Louis Viallard, Isabelle Desguerre
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Spinal muscular atrophy type 1 (SMA-1) is a severe neurodegenerative disorder, which in the absence of curative treatment, leads to death before 1 year of age in most cases. Caring for these short-lived and severely impaired infants requires palliati
Externí odkaz:
https://doaj.org/article/506b484993754275b3918ccdac2b09b9
Autor:
Marion, Heller, Natacha, Gaitch, Brigitte, Martinez, François, Cartault, Michel, Renouil, Corinne, Theze, Emmanuelle, Girodon, Thierry, Bienvenu
Publikováno v:
In Journal of Cystic Fibrosis May 2015 14(3):305-309
Autor:
Lorita La Selva, Delphine Héron, Diana Rodriguez, Marilyn Tallot, Bénédicte Gérard, Charlotte Poe, David Cheillan, Anne Pervillé, Solveig Heide, Damien Haye, Christel Thauvin-Robinet, Yline Capri, Laurence Faivre, Julien Buratti, Marie-Line Jacquemont, Lionel Arnaud, Michel Renouil, Caroline Nava, Renzo Guerrini, Eric LeGuern, Boris Keren, Françoise Darcel, Amélie Piton, Cyril Mignot, Marc Bintner, Yannis Duffourd, Julien Thevenon, Laurence Perrin, Sandrine Passemard, Annalisa Vetro, Domitille Gras, J. Miquel, Charles E. Schwartz
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 24 (2), pp.492-498. ⟨10.1016/j.gim.2021.10.007⟩
Genetics in Medicine, 2021, 24 (2), pp.492-498. ⟨10.1016/j.gim.2021.10.007⟩
International audience; PURPOSE: Biallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. All Amish patients carry the homozygous p.(Arg288Ter) variant arising from a foun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e1eff8efb6f27863f422fb212a6aa7
https://pubmed.ncbi.nlm.nih.gov/34906476
https://pubmed.ncbi.nlm.nih.gov/34906476
Autor:
Michel Renouil, Séverine Blanc, Rémi Duprès, Pascale Gauthier-Lasalarié, Marc Bintner, Marc Molho
Publikováno v:
Journal of Neuroradiology. 44:93-94
Objectifs Decrire et repertorier les aspects en imagerie des atteintes du systeme nerveux central au cours des phases aigue et chronique du syndrome R.A.V.I.NE. Patients et methodes Etude retrospective multicentrique de 35 cas de syndrome R.A.V.I.NE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6424a123e628cf27315b589f6d26a21
https://doi.org/10.1016/j.neurad.2017.01.050
https://doi.org/10.1016/j.neurad.2017.01.050
Autor:
Jean François Lesure, A. Fajac, N. Davy, Isabelle Sermet-Gaudelus, L. Bidou, Michel Renouil, S. Pierrot, Gérard Lenoir, J. P. Rousset, B. Parbaille, Elise Bismuth, Aleksander Edelman, P. Reinert
Publikováno v:
BMC Medicine, Vol 16, Iss 1, Pp 1-1 (2018)
BMC Medicine
BMC Medicine
Background Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which acts as a chloride channel activated by cyclic AMP (cAMP). The most frequent mutation found in 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bff4a6d6892ada1afe4570138963c29
http://link.springer.com/article/10.1186/s12916-018-1138-z
http://link.springer.com/article/10.1186/s12916-018-1138-z
Autor:
Patrice Tournebize, Manuel Rocaboy, Khaled Ezzedine, Michel Renouil, Jean Pierre Fériot, Marc Bintner, Hugues Flodrops, Laure Houdon, Denis Malvy
Publikováno v:
Journal of Travel Medicine. 17:274-277
We report the case of two brothers who returned from Madagascar presenting all the acute phase symptoms of a primary invasive Schistosoma mansoni infection, together with brain involvement characterized by acute encephalitis. This rarely described is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::616ac976bdfaddbe230e56343c15e950
https://doi.org/10.1111/j.1708-8305.2010.00401.x
https://doi.org/10.1111/j.1708-8305.2010.00401.x
Autor:
Patrick, Gérardin, Thérèse, Couderc, Marc, Bintner, Patrice, Tournebize, Michel, Renouil, Jérome, Lémant, Véronique, Boisson, Gianandrea, Borgherini, Frédérik, Staikowsky, Frédéric, Schramm, Marc, Lecuit, Alain, Michault
Publikováno v:
Neurology
Neurology, American Academy of Neurology, 2015, ⟨10.1212/WNL.0000000000002234⟩
Neurology, 2015, ⟨10.1212/WNL.0000000000002234⟩
Neurology, American Academy of Neurology, 2015, ⟨10.1212/WNL.0000000000002234⟩
Neurology, 2015, ⟨10.1212/WNL.0000000000002234⟩
International audience; Objectives: To estimate the cumulative incidence rate (CIR) of Chikungunya virus (CHIKV)-associated Central Nervous System (CNS) disease during the La Réunion outbreak, and assess the disease burden and patient outcome after
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1866d05407aa5b976725da033f37ea81
https://pubmed.ncbi.nlm.nih.gov/27217467
https://pubmed.ncbi.nlm.nih.gov/27217467
Autor:
Alexandre Dos Santos, Jean-François Lesure, Frédéric Halgand, Aleksander Edelman, Joanna Lipecka, Michel Renouil, Danielle Tondelier, Mauro Perretti, Anne Fajac, Olivier Laprévote, Isabelle Sermet-Gaudelus, Benoit Vallée, Noélie Davezac, Noura Bensalem, Ana Paula Ventura
Publikováno v:
Molecular & Cellular Proteomics. 4:1591-1601
Cystic fibrosis is a fatal human genetic disease caused by mutations in the CFTR gene encoding a cAMP-activated chloride channel. It is characterized by abnormal fluid transport across secretory epithelia and chronic inflammation in lung, pancreas, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b19a389e07db2d13b497db95fb08179d
https://doi.org/10.1074/mcp.m500019-mcp200
https://doi.org/10.1074/mcp.m500019-mcp200
Autor:
Michel Renouil, Marc De Braekeleer, Jean François Lesure, Gil Bellis, Hughes Flodrops, I. Duguépéroux
Publikováno v:
Journal of Cystic Fibrosis. 3:185-188
Background: The Reunion Island is a French administrative department located in the Indian Ocean between the islands of Madagascar and Mauritius. Its population is known to be at a high risk of cystic fibrosis (CF). Methods: Data concerning all CF pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03cfccd85369b9e1bed611a46728c51d
https://doi.org/10.1016/j.jcf.2004.03.011
https://doi.org/10.1016/j.jcf.2004.03.011
Autor:
Bruno Toupance, Florence Lacaille, Laureline Berteloot, Virginie Verkarre, Jacques de Blic, Michel Renouil, Malek Louha, Françoise Darcel, Mélinée Linard, Jean-Pierre Rivière, Alice Hadchouel, Laurent Enaud, Matthias Griese, Liliane Boccon-Gibod, Aurore Coulomb, Christophe Delacourt, Vincent Boulay
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.85. ⟨10.1186/1750-1172-9-85⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.85. ⟨10.1186/1750-1172-9-85⟩
Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.85. ⟨10.1186/1750-1172-9-85⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.85. ⟨10.1186/1750-1172-9-85⟩
Background Pulmonary alveolar proteinosis (PAP) is very rare in children. Only a few small series have been published, with little information about long-term progression. The objective of our study was to describe the clinical, radiological and path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::572f87527d134fd7f188b59c0598f1fa
https://hal.science/hal-02122595
https://hal.science/hal-02122595
