Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Emmanuelle Fleurence"'
Autor:
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in
Externí odkaz:
https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1
Autor:
Laura Allaer, Sonia Khirani, Lucie Griffon, Bruno Massenavette, Priscille Bierme, Guillaume Aubertin, Nathalie Stremler, Melisande Baravalle-Einaudi, Julie Mazenq, Iulia Ioan, Cyril Schweitzer, Alexandra Binoche, Marie Emilie Lampin, Clemence Mordacq, Jean Bergounioux, Blaise Mbieleu, Robert Rubinsztajn, Elodie Sigur, Geraldine Labouret, Aline Genevois, Arnaud Becourt, Eglantine Hullo, Stéphane Debelleix, François Galodé, Stéphanei Bui, Johan Moreau, Marie Catherine Renoux, Stefan Matecki, Marc Lubrano Lavadera, Rachel Heyman, Michael Pomedio, Laurence Le Clainche, Plamen Bokov, Benjamin Dudoignon, Alexandra Masson, Pauline Hangard, Celine Menetrey, Mikael Jokic, Elsa Gachelin, Caroline Perisson, Anne Pervillé, Agnes Fina, Lisa Giovannini-Chami, Emmanuelle Fleurence, Audrey Barzic, Pierrick Cros, Audrey Breining, Morgane Ollivier, Guillaume Labbé, Laurianne Coutier, Jessica Taytard, Brigitte Fauroux
Publikováno v:
Neuromuscular disorders : NMD. 32(11-12)
The aim of the study was to describe the characteristics of children with neuromuscular diseases treated with long term noninvasive ventilation or continuous positive airway pressure in France. On June 1st 2019, 387 patients (63% boys, mean age 11.2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61a703a8bda3062e74ef7c7390616e22
https://pubmed.ncbi.nlm.nih.gov/36270935
https://pubmed.ncbi.nlm.nih.gov/36270935
Autor:
Joris Menard, Andreea M Seferian, Emmanuelle Fleurence, Audrey Barzic, Alexandra Binoche, Géraldine Labouret, Laurianne Coutier, Carole Vuillerot, Blaise M Bieleu, Marta Gomez Garcia de la Banda, Harriet Corvol, Laurent Servais, Jessica Taytard
Publikováno v:
Pediatric Pulmonology
Pediatric Pulmonology, 2022, 57 (6), pp.1505-1512. ⟨10.1002/ppul.25899⟩
Pediatric Pulmonology, 2022, 57 (6), pp.1505-1512. ⟨10.1002/ppul.25899⟩
International audience; Introduction: The recent development of disease-modifying treatments in spinal muscular atrophy (SMA) type 1 shifted these patients' management from palliative to proactive. The aim of this study was to assess patients' noctur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8edb7850436cb41fa609b331504897e
https://pubmed.ncbi.nlm.nih.gov/35307979
https://pubmed.ncbi.nlm.nih.gov/35307979
Autor:
Stéphanie Bui, Laurence Le Clainche, Plamen Bokov, Laurianne Coutier, Julie Mazenq, Isabelle Pin, Sonia Khirani, Lisa Giovannini-Chami, Iulia Ioan, Emmanuelle Fleurence, B. Mbieleu, Stefan Matecki, Anne Pervillé, Melisande Baravalle-Einaudi, Guillaume Aubertin, Bruno Massenavette, Elodie Sigur, Robert Rubinsztajn, Agnès Fina, Marie Emilie Lampin, Alexandra Masson, Clemence Mordacq, Priscille Bierme, Jessica Taytard, Eglantine Hullo, Alexandra Binoche, Audrey Breining, Morgane Ollivier, Alessandro Amaddeo, Nathalie Stremler, Michael Pomedio, Rachel Heyman, Mikael Jokic, Geraldine Labouret, Arnaud Becourt, Marc Lubrano Lavadera, Jean Bergounioux, Pauline Hangard, Elsa Gachelin, Brigitte Fauroux, Marie Catherine Renoux, François Galode, Audrey Barzic, Guillaume Labbé, Cyril Schweitzer, Stephane Debelleix, Johan Moreau, Aline Genevois, Caroline Perisson, Celine Menetrey
Publikováno v:
Respiratory Medicine
Respiratory Medicine, Elsevier, 2021, 181, pp.106388. ⟨10.1016/j.rmed.2021.106388⟩
Respiratory Medicine, Elsevier, 2021, 181, pp.106388. ⟨10.1016/j.rmed.2021.106388⟩
International audience; Objective: To describe the characteristics of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in France.Design: Cross-sectional national survey.Setting: Paediatric CP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c00b83493ec74a72ff22aa3299bd4301
https://doi.org/10.1016/j.rmed.2021.106388
https://doi.org/10.1016/j.rmed.2021.106388
Les soins palliatifs de neuropédiatrie dans un service de soins de suite : de la pratique au concept
Autor:
Valentine Gury, Marion Lang, Marie-Christine Delmas, Pascale Zangla, Emmanuelle Fleurence, Benjamin Guy
Publikováno v:
Médecine Palliative : Soins de Support - Accompagnement - Éthique. 10:195-204
Resume La culture de soins palliative est vecue au quotidien dans les structures de soins de suite qui suivent des enfants presentant des maladies neurologiques. Apres la description de 11 cas d’enfants decedes dans le service de neuropediatrie de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::331aac0ef6aaf8d51d2e04de06beb15b
https://doi.org/10.1016/j.medpal.2010.12.004
https://doi.org/10.1016/j.medpal.2010.12.004
Autor:
Christophe Delacourt, Cécile Arnaud, Fouad Madhi, Clément Tassel, Annie Kandem, Françoise Bernaudin, Marc Kulpa, Emmanuelle Fleurence
Publikováno v:
Respiratory Medicine. 105(5):788-795
SummaryBackgroundThe decline in lung volumes associated with sickle cell disease (SCD) may begin in childhood. Risk factors for early restrictive lung disease may include SCD severity markers such as leukocytosis.ObjectiveWe examined the relationship
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc1cbff9f8f7e5d4e8c77d1711dfa508
Autor:
W.H. Irwin McLean, Sébastien Küry, Stéphane Bézieau, Uchenna Agbim, Florence Caillon, Jacinda B. Sampson, Arnold Munnich, Perrine Brunelle, Mythily Ganapathi, Christel Thauvin, Rosemarie Watson, Nonhlanhla P. Khumalo, Armelle Magot, Sandra Mercier, Antoine Hamel, Nathalie Bodak, Thomas Besnard, Eve Puzenat, Flora Breheret, Jean Marie Mussini, Valérie Cormier-Daire, Christian L. Laboisse, Maeve A. McAleer, Juliette Piard, Bongani M. Mayosi, Romain K. Gherardi, Frances J.D. Smith, Alice Goldenberg, Emmanuelle Salort-Campana, Grainne M. O'Regan, Nadem Soufir, Yann Péréon, Julie Perrier, Albert David, Alan D. Irvine, Dominique Figarella-Branger, Emmanuelle Fleurence, Bruno Eymard, Peter L. Nagy, Brigitte Chabrol, Caroline Kannengiesser, Kurenai Tanji, Christina Ulane, Jean Yves Mahé, Stuart A. MacGowan, Sébastien Barbarot, Laurence Faivre, Cédric Le Caignec, Jeanine Igual, Chantal Bou-Hanna, Dominique Israël-Biet, C. Méni, Jeffrey G. Odel, Stéphanie Mallet
Publikováno v:
Orphanet Journal of Rare Diseases
Background Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f0d9adfd16251a397b56b92a4e8b25
http://hdl.handle.net/11427/34599
http://hdl.handle.net/11427/34599
Publikováno v:
Blood. 106:2338-2338
Abnormal TCD defined as high mean maximum velocities > 200 cm/sec are highly predictive of stroke risk and justify long term transfusion program. Outcome and risk factors of conditional TCD defined as velocities 170–200 cm/sec remains to be describ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7da33606a1892548787cd60c9c0f089
https://doi.org/10.1182/blood.v106.11.2338.2338
https://doi.org/10.1182/blood.v106.11.2338.2338
Autor:
Françoise Bernaudin, Lena Coic, Emmanuelle Lesprit, Cécile Arnaud, Emmanuelle Fleurence, Christophe Delacourt, Suzanne Verlhac
Publikováno v:
Blood. 106:3196-3196
Treatment intensifications in SCD with HU, TP or SCT are applied in order to reduce SCD related complications but their comparative effects have still to be described. We report our experience concerning the annual check-up performed in SCD pediatric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ace6385f6fd7407d4c556a1014d2f509
https://doi.org/10.1182/blood.v106.11.3196.3196
https://doi.org/10.1182/blood.v106.11.3196.3196
Autor:
Thierry Lacaze-Masmonteil, Emmanuelle Fleurence, Jacques R. Bourbon, Marie-Laure Franco-Motoya, Olivier Danos, Christophe Delacourt, A.-M. Douar, Paul Waszak, Christel Rivière
Publikováno v:
Human Gene Therapy. :051006063304001
Transient local overexpression of genes that promote lung defense or repair may help to protect or promote alveolar development in premature neonates. We showed that the use of adenoviral vectors in neonates was limited by the induction of lung growt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20505221e732bcbe8d1533291a94b1d
https://doi.org/10.1089/hum.2005.16.ft-136
https://doi.org/10.1089/hum.2005.16.ft-136