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Your search keyword '"Laforet, Pascal"' showing total 15 results
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15 results on '"Laforet, Pascal"'

1. Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles

Author

Le Gall, Laura, primary, Duddy, William J., additional, Martinat, Cecile, additional, Mariot, Virginie, additional, Connolly, Owen, additional, Milla, Vanessa, additional, Anakor, Ekene, additional, Ouandaogo, Zamalou G., additional, Millecamps, Stephanie, additional, Lainé, Jeanne, additional, Vijayakumar, Udaya Geetha, additional, Knoblach, Susan, additional, Raoul, Cedric, additional, Lucas, Olivier, additional, Loeffler, Jean Philippe, additional, Bede, Peter, additional, Behin, Anthony, additional, Blasco, Helene, additional, Bruneteau, Gaelle, additional, Del Mar Amador, Maria, additional, Devos, David, additional, Henriques, Alexandre, additional, Hesters, Adele, additional, Lacomblez, Lucette, additional, Laforet, Pascal, additional, Langlet, Timothee, additional, Leblanc, Pascal, additional, Le Forestier, Nadine, additional, Maisonobe, Thierry, additional, Meininger, Vincent, additional, Robelin, Laura, additional, Salachas, Francois, additional, Stojkovic, Tanya, additional, Querin, Giorgia, additional, Dumonceaux, Julie, additional, Butler Browne, Gillian, additional, González De Aguilar, Jose‐Luis, additional, Duguez, Stephanie, additional, and Pradat, Pierre Francois, additional

Published
2022
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2. Determinants of diaphragm inspiratory motion, diaphragm thickening and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy

Author

Fayssoil, Abdallah, primary, Nguyen, Lee S., additional, Stojkovic, Tanya, additional, Prigent, Helene, additional, Carlier, Robert, additional, Amthor, Helge, additional, Bergounioux, Jean, additional, Zini, Justine, additional, Damez‐Fontaine, Sebastien, additional, Wahbi, Karim, additional, Laforet, Pascal, additional, Nicolas, Guillaume, additional, Behin, Anthony, additional, Bassez, Guillaume, additional, Leturcq, France, additional, Yaou, Rabah Ben, additional, Mansencal, Nicolas, additional, Annane, Djillali, additional, Lofaso, Frédéric, additional, and Orlikowski, David, additional

Published
2021
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3. Nutritional status, swallowing disorders, and respiratory prognosis in adult Duchenne muscular dystrophy patients

Author

Fayssoil, Abdallah, primary, Chaffaut, Cendrine, additional, Prigent, Helene, additional, Laforet, Pascal, additional, Clair, Bernard, additional, Orlikowski, David, additional, Ogna, Adam, additional, Chevret, Sylvie, additional, Meng, Paris, additional, Annane, Djillali, additional, Lofaso, Frederic, additional, and Crenn, Pascal, additional

Published
2021
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4. Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation

Author

Fayssoil, Abdallah, primary, Yaou, Rabah Ben, additional, Ogna, Adam, additional, Leturcq, France, additional, Nardi, Olivier, additional, Clair, Bernard, additional, Wahbi, Karim, additional, Lofaso, Frederic, additional, Laforet, Pascal, additional, Duboc, Denis, additional, Orlikowski, David, additional, and Annane, Djillali, additional

Published
2017
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5. Genetic Characterization of a French Cohort of GNE‐mutation negative inclusion body myopathy patients with exome sequencing

Author

Cerino, Mathieu, primary, Gorokhova, Svetlana, additional, Laforet, Pascal, additional, Ben Yaou, Rabah, additional, Salort‐Campana, Emmanuelle, additional, Pouget, Jean, additional, Attarian, Shahram, additional, Eymard, Bruno, additional, Deleuze, Jean‐François, additional, Boland, Anne, additional, Behin, Anthony, additional, Stojkovic, Tanya, additional, Bonne, Gisele, additional, Levy, Nicolas, additional, Bartoli, Marc, additional, and Krahn, Martin, additional

Published
2017
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8. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Author

Nilsson, Johanna, primary, Schoser, Benedikt, additional, Laforet, Pascal, additional, Kalev, Ognian, additional, Lindberg, Christopher, additional, Romero, Norma B., additional, Dávila López, Marcela, additional, Akman, Hasan O., additional, Wahbi, Karim, additional, Iglseder, Stephan, additional, Eggers, Christian, additional, Engel, Andrew G., additional, DiMauro, Salvatore, additional, and Oldfors, Anders, additional

Published
2013
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9. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

Author

Michot, Caroline, primary, Hubert, Laurence, additional, Romero, Norma B., additional, Gouda, Amr, additional, Mamoune, Asmaa, additional, Mathew, Suja, additional, Kirk, Edwin, additional, Viollet, Louis, additional, Rahman, Shamima, additional, Bekri, Soumeya, additional, Peters, Heidi, additional, McGill, James, additional, Glamuzina, Emma, additional, Farrar, Michelle, additional, von der Hagen, Maya, additional, Alexander, Ian E., additional, Kirmse, Brian, additional, Barth, Magalie, additional, Laforet, Pascal, additional, Benlian, Pascale, additional, Munnich, Arnold, additional, JeanPierre, Marc, additional, Elpeleg, Orly, additional, Pines, Ophry, additional, Delahodde, Agnès, additional, de Keyzer, Yves, additional, and de Lonlay, Pascale, additional

Published
2012
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11. Clinical features of late-onset Pompe disease: A prospective cohort study

Author

Wokke, John H.J., primary, Escolar, Diana M., additional, Pestronk, Alan, additional, Jaffe, Kenneth M., additional, Carter, Gregory T., additional, van den Berg, Leonard H., additional, Florence, Julaine M., additional, Mayhew, Jill, additional, Skrinar, Alison, additional, Corzo, Deyanira, additional, and Laforet, Pascal, additional

Published
2008
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14. Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

Author

Schoser B, van der Beek NAME, Broomfield A, Brusse E, Diaz-Manera J, Hahn A, Hundsberger T, Kornblum C, Kruijshaar M, Laforet P, Mengel E, Mongini T, Orlikowski D, Parenti G, Pijnappel WWMP, Roberts M, Scherer T, Toscano A, Vissing J, van den Hout JMP, van Doorn PA, Wenninger S, and van der Ploeg AT

Subjects
Humans, Europe, Glycogen Storage Disease Type II drug therapy, Enzyme Replacement Therapy methods
Abstract

Background and Purpose: Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late-onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023. The European Pompe Consortium (EPOC) updates and extends the scope of the 2017 recommendations for starting, switching and stopping ERT., Methods: The European Pompe Consortium consists of 25 neuromuscular and metabolic experts from eight European countries. This update was performed after an in-person meeting, three rounds of discussion and voting to provide a consensus recommendation., Results: The patient should be symptomatic, that is, should have skeletal muscle weakness or respiratory muscle involvement. Muscle magnetic resonance imaging findings showing substantial fat replacement can support the decision to start in a patient-by-patient scenario. Limited evidence supports switching ERT if there is no indication that skeletal muscle and/or respiratory function have stabilized or improved during standard ERT of 12 months or after severe infusion-associated reactions. Switching of ERT should be discussed on a patient-by-patient shared-decision basis. If there are severe, unmanageable infusion-associated reactions and no stabilization in skeletal muscle function during the first 2 years after starting or switching treatment, stopping ERT should be considered. After stopping ERT for inefficacy, restarting ERT can be considered. Six-monthly European Pompe Consortium muscle function assessments are recommended., Conclusions: The triple-S criteria on ERT start, switch and stop include muscle magnetic resonance imaging as a supportive finding and the potential option of home infusion therapy. Six-monthly long-term monitoring of muscle function is highly recommended to cover insights into the patient's trajectory under ERT., (© 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

Published
2024
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15. Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

Author

Michon CC, Gargiulo M, Hahn-Barma V, Petit F, Nadaj-Pakleza A, Herson A, Eymard B, Labrune P, and Laforet P

Subjects
Adult, Cognition, Executive Function, Female, Humans, Language, Male, Memory, Middle Aged, Pilot Projects, Young Adult, Cognition Disorders diagnosis, Glycogen Storage Disease Type III complications, Glycogen Storage Disease Type III psychology, Neuropsychological Tests statistics & numerical data
Abstract

Background: Glycogen storage disease type III (GSDIII) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. It results in a multisystemic disease with predominant hepatic and myopathic symptoms. While frequent social maladjustment has been observed in our clinical practice, cognitive and psychological disturbances have never been assessed. The aim of this pilot study was to examine and characterize the cognitive profile of patients with GSDIII., Methods: Seven patients (six women and one man, mean age: 38.7 ± 11.6 years) with GSDIII underwent a neuropsychological set of tests assessing global cognitive efficiency, executive functions, social cognition, apathy, and episodic memory., Results: All patients presented previous psychopathological history. We observed attention fluctuations for each patient, and impaired global cognitive efficiency with deficiencies in executive functions in 5/7 patients. Emotional skills (social cognition) were impaired in five patients. Memory was mostly preserved., Conclusion: The impairment in social cognition (recognition of emotions and ability to attribute mental states to others) and executive functions observed could be a consequence of orbito-frontal dysfunction due to the abnormal glycogen metabolism characteristic of the underlying disease. These results are consistent with the hypothesis of a central nervous system involvement in patients with GSDIII, but need to be confirmed in future research. This could explain the social and economic difficulties, and the lack of compliance to the medical follow-up presented by these patients. It suggests that these disturbances need to be taken into account when planning the medical management of patients with GSDIII.

Published
2015
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