Search Results - "Goubau, Christophe"

Screening and evaluation tools of dysphagia in adults with neuromuscular diseases: a systematic review by Audag, Nicolas, Goubau, Christophe, Toussaint, Michel, Reychler, Gregory

“…Background: The purpose of this systematic review was to summarize the different dysphagia screening and evaluation tools, and to identify their measurement…”
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One year effect of tezacaftor and ivacaftor on functional exercise capacity and muscle strength in people with cystic fibrosis by Anne-Sophie, Aubriot, Penelle, Morgane, Clémence, Gonçalvès, Berardis, Silvia, Goubau, Christophe, Reychler, Gregory, Gohy, Sophie

“…The 1-min sit-to-stand test (1STST) is a practical tool to evaluate physical capacity. The aim of this study was to assess the impact of tezacaftor and…”
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Esophageal Trachea, a Unique Foregut Malformation Requiring Multistage Surgical Reconstruction: Case Report by Tambucci, Roberto, Wautelet, Océane, Haenecour, Astrid, François, Geneviève, Goubau, Christophe, Scheers, Isabelle, Halut, Marin, Menten, Renaud, Schmitz, Sandra, de Toeuf, Caroline, Pirotte, Thierry, D'hondt, Beelke, Reding, Raymond, Poncelet, Alain

“…Abnormal connections between the esophagus and low respiratory tract can result from embryological defects in foregut development. Beyond well-known…”
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Screening and evaluation tools of dysphagia in children with neuromuscular diseases: a systematic review by Audag, Nicolas, Goubau, Christophe, Toussaint, Michel, Reychler, Gregory

“…Aim Dysphagia is frequent in paediatric patients with neuromuscular diseases (pNMD). Its detection is important for initiating early diagnosis and treatment as…”
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Screening for sleep‐disordered breathing with Pediatric Sleep Questionnaire in children with underlying conditions by Pabary, Rishi, Goubau, Christophe, Russo, Kylie, Laverty, Aidan, Abel, François, Samuels, Martin

“…The Pediatric Sleep Questionnaire described by Chervin et al. (Sleep Medicine, 2000, 1, 21–32) was originally validated for children with obstructive sleep…”
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Screening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire by Audag, Nicolas, Liistro, Giuseppe, Goubau, Christophe, Vandervelde, Laure, Poncin, William, Toussaint, Michel, Van den Bergh, Peter, Reychler, Gregory

“…Introduction/Aims Oropharyngeal dysphagia is common in patients with neuromuscular diseases (NMDs). Its early recognition is vital for proper management. We…”
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Validation and Reliability of the French Version of the Sydney Swallow Questionnaire by Audag, Nicolas, Goubau, Christophe, Danse, Etienne, Vandervelde, Laure, Liistro, Giuseppe, Toussaint, Michel, Reychler, Gregory

“…Oropharyngeal dysphagia is frequently under-reported and early detection may lead to adapt strategies of rehabilitation and management decisions. The Sydney…”
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Epstein-Barr Virus-associated Pulmonary Tumor: A Pediatric Case and Discussion of the Literature by Lecoq, Nathalie, Godefroid, Nathalie, Berardis, Silvia, Froidure, Antoine, Poncelet, Alain, Goubau, Christophe

“…Epstein-Barr virus-associated smooth pulmonary tumor is a rare condition that mostly affects immunosuppressed patients. This case describes a young boy with a…”
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Epstein-Barr Virus-associated Pulmonary Tumor: A Pediatric Case and Discussion of the Literature by Lecoq, Nathalie, Godefroid, Nathalie, Berardis, Silvia, Froidure, Antoine, Poncelet, Alain, Goubau, Christophe

“…Epstein-Barr virus-associated smooth pulmonary tumor is a rare condition that mostly affects immunosuppressed patients. This case describes a young boy with a…”
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Correlation Between Cardiopulmonary Exercise Test, Spirometry, and Congenital Heart Disease Severity in Pediatric Population by Morales Mestre, Natalia, Reychler, Gregory, Goubau, Christophe, Moniotte, Stéphane

“…Congenital heart disease (CHD) is a common chronic disease. This study aimed to verify the relationship between spirometry and exercise capacity in children,…”
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An observational study of the lung clearance index throughout childhood in cystic fibrosis: early years matter by Davies, Gwyneth, Stanojevic, Sanja, Raywood, Emma, Duncan, Julie A, Stocks, Janet, Lum, Sooky, Bush, Andrew, Viviani, Laura, Wade, Angie, Calder, Alistair, Owens, Catherine M, Goubau, Christophe, Carr, Siobhán B, Bossley, Cara J, Pao, Caroline, Aurora, Paul

“…The London Cystic Fibrosis Collaboration (LCFC) has prospectively followed a clinically diagnosed cohort of infants with cystic fibrosis (CF) born in South…”
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients by Panagiotakaki, Eleni, De Grandis, Elisa, Stagnaro, Michela, Heinzen, Erin L, Fons, Carmen, Sisodiya, Sanjay, de Vries, Boukje, Goubau, Christophe, Weckhuysen, Sarah, Kemlink, David, Scheffer, Ingrid, Lesca, Gaëtan, Rabilloud, Muriel, Klich, Amna, Ramirez-Camacho, Alia, Ulate-Campos, Adriana, Campistol, Jaume, Giannotta, Melania, Moutard, Marie-Laure, Doummar, Diane, Hubsch-Bonneaud, Cecile, Jaffer, Fatima, Cross, Helen, Gurrieri, Fiorella, Tiziano, Danilo, Nevsimalova, Sona, Nicole, Sophie, Neville, Brian, van den Maagdenberg, Arn M J M, Mikati, Mohamad, Goldstein, David B, Vavassori, Rosaria, Arzimanoglou, Alexis

“…Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series…”
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The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders by Goubau, Christophe, Buyse, Gunnar M, Van Geet, Chris, Freson, Kathleen

“…Platelets, known for their role in primary haemostasis, prevent excessive bleeding after injury. The study of platelets has, therefore, traditionally focused…”
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Regulated granule trafficking in platelets and neurons: A common molecular machinery by Goubau, Christophe, Buyse, Gunnar M, Di Michele, Michela, Van Geet, Chris, Freson, Kathleen

“…Abstract Platelet function in primary hemostasis involves the secretion of granules upon activation, providing the localized delivery of effector proteins at…”
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Another Cause of Hyperglyceroluria by Jaeken, Jaak, Goubau, Christophe, Buyse, Gunnar M., Goemans, Nathalie, Levtchenko, Elena N.

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Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12 by Goubau, Christophe, Devriendt, Koen, Van der Aa, Nathalie, Crepel, An, Wieczorek, Dagmar, Kleefstra, Tjitske, Willemsen, Marjolein H, Rauch, Anita, Tzschach, Andreas, de Ravel, Thomy, Leemans, Peter, Van Geet, Chris, Buyse, Gunnar, Freson, Kathleen

“…The Forkhead box G1 (FOXG1) gene encodes a transcriptional repressor essential for early development of the telencephalon. Intragenic mutations and gene…”
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Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood by Di Michele, Michela, Goubau, Christophe, Waelkens, Etienne, Thys, Chantal, De Vos, Rita, Overbergh, Lut, Schyns, Tsveta, Buyse, Gunnar, Casaer, Paul, Van Geet, Chris, Freson, Kathleen

“…Alternating hemiplegia of childhood (AHC) is a rare syndrome with repeated hemiplegic episodes, paroxysmal events and global neurological impairment. Recently,…”
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Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect by Goubau, Christophe, Jaeken, Jaak, Levtchenko, Elena N, Thys, Chantal, Di Michele, Michela, Martens, Geert A, Gerlo, Erik, De Vos, Rita, Buyse, Gunnar M, Goemans, Nathalie, Van Geet, Chris, Freson, Kathleen

“…Purpose: Aquaporin 7 (AQP7) belongs to the aquaglyceroporin family, which transports glycerol and water. AQP7-deficient mice develop obesity, insulin…”
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Another Cause of Hyperglyceroluria: Aquaporin 7 Gene Mutation by Jaeken, Jaak, Goubau, Christophe, Buyse, Gunnar M., Goemans, Nathalie, Levtchenko, Elena N.

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Esophageal Trachea, a Unique Foregut Malformation Requiring Multistage Surgical Reconstruction: Case Report by Tambucci, Roberto, Wautelet, Océane, Haenecour, Astrid, François, Geneviève, Goubau, Christophe, Scheers, Isabelle, Halut, Marin, Menten, Renaud, Schmitz, Sandra, de Toeuf, Caroline, Pirotte, Thierry, D'hondt, Beelke, Reding, Raymond, Poncelet, Alain

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