Search Results - "Mbieleu, Blaise"

De novo LMNA mutations cause a new form of congenital muscular dystrophy by Quijano-Roy, Susana, Mbieleu, Blaise, Bönnemann, Carsten G., Jeannet, Pierre-Yves, Colomer, Jaume, Clarke, Nigel F., Cuisset, Jean-Marie, Roper, Helen, De Meirleir, Linda, D'Amico, Adele, Ben Yaou, Rabah, Nascimento, Andrés, Barois, Annie, Demay, Laurence, Bertini, Enrico, Ferreiro, Ana, Sewry, Caroline A., Romero, Norma B., Ryan, Monique, Muntoni, Francesco, Guicheney, Pascale, Richard, Pascale, Bonne, Gisèle, Estournet, Brigitte

“…Objective To describe a new entity of congenital muscular dystrophies caused by de novo LMNA mutations. Methods Fifteen patients presenting with a myopathy of…”
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Vertebral Bodies, Anterior Erosion, and Compression by Tracheostomy Canula by Costa, Guillaume, Thiry, Tristan, Essid, Aben, Mbieleu, Blaise, Haegy, Isabelle, Perrier, Antoine, Bergounioux, Jean

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Paradoxical metabolic acidosis after vomiting in children with spinal muscular atrophy: A report of 9 patients by Bensoussan, Fiona, Costa, Guillaume, Blanchard, Anne, Vaugier, Isabelle, Baron, Stéphanie, Essid, Aben, Mbieleu, Blaise, Bakayoko, Awa, Deconinck, Nicolas, Bergounioux, Jean, Zini, Justine

“…Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease that progresses toward restrictive respiratory failure due to muscle paralysis. We observed…”
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Lung volume recruitment and airway clearance for children at home in France by Khirani, Sonia, Griffon, Lucie, Thébault, Charlotte, Aubertin, Guillaume, Dupont, Pierre, Mbieleu, Blaise, Galodé, François, Canavesio, Coline, Fleurence, Emmanuelle, Labouret, Géraldine, Cros, Pierrick, Barzic, Audrey, Lubrano Lavadera, Marc, Giovannini-Chami, Lisa, Gilardoni, Jean-Marc, Gourdan, Pierre, Moreau, Johan, Matecki, Stefan, Zitvogel, Françoise, Durand, Marine, Perisson, Caroline, Le Clainche, Laurence, Taytard, Jessica, Fauroux, Brigitte

“…Airway clearance (ACT) and lung volume recruitment (LVR) techniques are used to manage bronchial secretions, increase cough efficiency and lung/chest wall…”
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Perioperative complications after posterior spinal fusion versus minimally invasive fusionless surgery in neuromuscular scoliosis: a comparative study by Gaume, Mathilde, Njiki, Josiane, Vaugier, Isabelle, Orliaguet, Gilles, Verollet, Delphine, Glorion, Christophe, Essid, Aben, Mbieleu, Blaise, Zini, Justine, Fayssoile, Abdallah, Quijano-Roy, Susana, Desguerre, Isabelle, Miladi, Lotfi, Bergounioux, Jean

“…Introduction Early-onset scoliosis is a common deformity in neuromuscular disease. When conservative treatment becomes ineffective, several surgical options…”
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Non-invasive respiratory support in children and young adults with complex medical conditions in pediatric palliative care by Fauroux, Brigitte, Taytard, Jessica, Ioan, Iulia, Lubrano, Marc, Le Clainche, Laurence, Bokov, Plamen, Dudoignon, Benjamin, Debelleix, Stephane, Galode, Francois, Coutier, Laurianne, Sigur, Elodie, Labouret, Geraldine, Ollivier, Morgane, Binoche, Alexandra, Bergougnioux, Jean, Mbieleu, Blaise, Essid, Aben, Hullo, Eglantine, Barzic, Audrey, Moreau, Johan, Jokic, Mikael, Denamur, Sophie, Aubertin, Guillaume, Schweitzer, Cyril, Becourt, Arnaud, Mouydi, Mariam, Ladaurade, Alice, Bui, Stéphanie, Cros, Pierrick, Labbé, Guillaume, Lampin, Marie Emilie, Mordacq, Clemence, Masson, Alexandra, Hangard, Pauline, Stremler, Nathalie, Baravalle-Einaudi, Melisande, Renoux, Marie Catherine, Matecki, Stefan, Fleurence, Emmanuelle, Fina, Agnes, Giovannini-Chami, Lisa, Khirani, Sonia, Griffon, Lucie, Diaz, Véronique, Pomedio, Michael, Heyman, Rachel, Gachelin, Elsa, Perisson, Caroline, Pervillé, Anne, Breining, Audrey, Genevois, Aline

“…ObjectiveDyspnoea and sleep-disordered breathing (SDB) are common in children with life-limiting conditions but studies on treatment with non-invasive…”
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Levosimendan as Rescue Therapy for Acute Heart Failure in a Patient with Duchenne Muscular Dystrophy by Sumanaru, Dorin, Josseran, Loic, Essid, Aben, Mbieleu, Blaise, Haegy, Isabelle, Bergounioux, Jean

“…The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular…”
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Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study by Fauroux, Brigitte, Khirani, Sonia, Amaddeo, Alessandro, Massenavette, Bruno, Bierme, Priscille, Taytard, Jessica, Stremler, Nathalie, Baravalle-Einaudi, Melisande, Mazenq, Julie, Ioan, Iulia, Schweitzer, Cyril, Lampin, Marie Emilie, Binoche, Alexandra, Mordacq, Clemence, Bergounioux, Jean, Mbieleu, Blaise, Rubinsztajn, Robert, Sigur, Elodie, Labouret, Geraldine, Genevois, Aline, Becourt, Arnaud, Hullo, Eglantine, Pin, Isabelle, Debelleix, Stéphane, Galodé, François, Bui, Stéphanie, Moreau, Johan, Renoux, Marie Catherine, Matecki, Stefan, Lavadera, Marc Lubrano, Heyman, Rachel, Pomedio, Michael, Le Clainche, Laurence, Bokov, Plamen, Masson, Alexandra, Hangard, Pauline, Menetrey, Celine, Jokic, Mikael, Gachelin, Elsa, Perisson, Caroline, Pervillé, Anne, Fina, Agnes, Giovannini-Chami, Lisa, Fleurence, Emmanuelle, Barzic, Audrey, Breining, Audrey, Ollivier, Morgane, Labbé, Guillaume, Coutier, Laurianne, Aubertin, Guillaume

“…To describe the characteristics of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in France…”
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Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients by Gaume, Mathilde, Saudeau, Etienne, Gomez-Garcia de la Banda, Marta, Azzi-Salameh, Viviane, Mbieleu, Blaise, Verollet, Delphine, Benezit, Audrey, Bergounioux, Jean, Essid, Aben, Doehring, Isabelle, Dabaj, Ivana, Desguerre, Isabelle, Barnerias, Christine, Topouchian, Vicken, Glorion, Christophe, Quijano-Roy, Susana, Miladi, Lotfi

“…Background: Treatment of spinal muscular atrophy (SMA) scoliosis has evolved in the last decade, with the emergence of fusionless surgical techniques that…”
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Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients by Gaume, Mathilde, Saudeau, Etienne, Gomez-Garcia de la Banda, Marta, Azzi-Salameh, Viviane, Mbieleu, Blaise, Verollet, Delphine, Benezit, Audrey, Bergounioux, Jean, Essid, Aben, Doehring, Isabelle, Dabaj, Ivana, Desguerre, Isabelle, Barnerias, Christine, Topouchian, Vicken, Glorion, Christophe, Quijano-Roy, Susana, Miladi, Lotfi

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Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France by Allaer, Laura, Khirani, Sonia, Griffon, Lucie, Massenavette, Bruno, Bierme, Priscille, Aubertin, Guillaume, Stremler, Nathalie, Baravalle-Einaudi, Melisande, Mazenq, Julie, Ioan, Iulia, Schweitzer, Cyril, Binoche, Alexandra, Lampin, Marie Emilie, Mordacq, Clemence, Bergounioux, Jean, Mbieleu, Blaise, Rubinsztajn, Robert, Sigur, Elodie, Labouret, Geraldine, Genevois, Aline, Becourt, Arnaud, Hullo, Eglantine, Debelleix, Stéphane, Galodé, François, Bui, Stéphanei, Moreau, Johan, Renoux, Marie Catherine, Matecki, Stefan, Lubrano Lavadera, Marc, Heyman, Rachel, Pomedio, Michael, Clainche, Laurence Le, Bokov, Plamen, Dudoignon, Benjamin, Masson, Alexandra, Hangard, Pauline, Menetrey, Celine, Jokic, Mikael, Gachelin, Elsa, Perisson, Caroline, Pervillé, Anne, Fina, Agnes, Giovannini-Chami, Lisa, Fleurence, Emmanuelle, Barzic, Audrey, Cros, Pierrick, Breining, Audrey, Ollivier, Morgane, Labbé, Guillaume, Coutier, Laurianne, Taytard, Jessica, Fauroux, Brigitte

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Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France by Allaer, Laura, Khirani, Sonia, Griffon, Lucie, Massenavette, Bruno, Bierme, Priscille, Aubertin, Guillaume, Stremler, Nathalie, Baravalle-Einaudi, Melisande, Mazenq, Julie, Ioan, Iulia, Schweitzer, Cyril, Binoche, Alexandra, Lampin, Marie Emilie, Mordacq, Clemence, Bergounioux, Jean, Mbieleu, Blaise, Rubinsztajn, Robert, Sigur, Elodie, Labouret, Geraldine, Genevois, Aline, Becourt, Arnaud, Hullo, Eglantine, Debelleix, Stéphane, Galodé, François, Bui, Stéphanei, Moreau, Johan, Renoux, Marie Catherine, Matecki, Stefan, Lubrano Lavadera, Marc, Heyman, Rachel, Pomedio, Michael, Clainche, Laurence Le, Bokov, Plamen, Dudoignon, Benjamin, Masson, Alexandra, Hangard, Pauline, Menetrey, Celine, Jokic, Mikael, Gachelin, Elsa, Perisson, Caroline, Pervillé, Anne, Fina, Agnes, Giovannini-Chami, Lisa, Fleurence, Emmanuelle, Barzic, Audrey, Cros, Pierrick, Breining, Audrey, Ollivier, Morgane, Labbé, Guillaume, Coutier, Laurianne, Taytard, Jessica, Fauroux, Brigitte

“…•In 2019, 387 children were treated at home with noninvasive ventilation in France.•Most children had spinal muscular atrophy or congenital…”
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