Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Stéphane, Schaeffer"'
Autor:
Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100597- (2020)
Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe
Externí odkaz:
https://doaj.org/article/cdb7f7354b4d4f6f9c5aa6d68a3faea0
Publikováno v:
La Revue de Médecine Interne. 42:541-557
Mitochondrial diseases, characterized by a respiratory chain deficiency, are considered as rare genetic diseases but are the most frequent among inherited metabolic disorders. The complexity of their diagnosis is due to the dual control by the mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa9d21a33c3ed2f7f52d40ddcef86346
https://doi.org/10.1016/j.revmed.2020.12.002
https://doi.org/10.1016/j.revmed.2020.12.002
Autor:
Mélanie Fradin, Nicolas Sadoul, Xavier Waintraub, Didier Klug, Albert Hagège, Pascal Sabouraud, Arnaud Isapof, Julien Durigneux, Olivier Lascols, Pascal Laforêt, Armelle Magot, Ivana Dabaj, Eloi Marijon, Camille Vatier, Pascal Cintas, Emmanuelle Salort, Bénédicte Gaborit, Antoine Muchir, Xavier Ferrer, Pascale Richard, Corinne Metay, Stéphane Boulé, Sarah Leonard-Louis, Philippe Mabo, V. Tiffreau, Caroline Stalens, Jitendra K. Vohra, Stéphane Schaeffer, Khadija Chikhaoui, Eric Bieth, Sandra Mercier, Pierre Ambrosi, Aleksandra Nadaj-Pakleza, Michèle Mayer, Katja Zeppenfeld, Gisèle Bonne, Véronique Manel, Jean-Marc Davy, Guilhem Sole, Ghassan Moubarak, Nicolas Lamblin, Klaus Dieterich, Christophe Meune, Abdallah Fayssoil, Arnaud Lazarus, Philippe Maury, Karim Wahbi, Philippe Petiot, Isabelle Jéru, Annick Toutain, Corinne Vigouroux, Ana Ferreiro, Maud Michaud, H.M. Bécane, Bruno Eymard, Thomas D. Gossios, Marie-Christine Vantyghem, Saurabh Kumar, Estelle Gandjbakhch, Yann Péréon, T. Thompson, Marie-Christine Minot-Myhié, Anthony Behin, Frédéric Sacher, Philippe Charron, Nicolas Combes, Julien Praline, Dominique Babuty, Emmanuelle Lagrue, Usha B. Tedrow, Jean-Marc Sellal, Florence Petit, Perry M. Elliott, Frédéric Anselme, Philippe Chevalier, Frederic Taithe, Christine Barnerias, Vincent Laugel, Andoni Echaniz-Laguna, Raphaël P. Martins, Alexander F.A. Androulakis, Rabah Ben Yaou, Franck Boccara, Ulrike Walther-Louvier, Tanya Stojkovic, Françoise Bouhour, Annachiara De Sandre-Giovannoli, Susana Quijano-Roy, Françoise Chapon, Jean-Noël Trochu, Céline Tard, Anne Rollin, Jean-Marie Cuisset, Denis Duboc, Raphaël Porcher, Catherine Sarret, Jonathan M. Kalman, Florence Demurger, Damien Bonnet, Christine Francannet, Neal K. Lakdawala, Romain Eschalier, Fabien Labombarda, Kostantinos Savvatis, Raul Juntas Morales, Isabelle Desguerre, Nicolas Lévy, Anne-Claire Brehin
Publikováno v:
Circulation
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, American Heart Association, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, 140(4), 293-302. LIPPINCOTT WILLIAMS & WILKINS
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, American Heart Association, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, 140(4), 293-302. LIPPINCOTT WILLIAMS & WILKINS
Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods: We included 83
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::483a88c3cc8f66a0edaa78e72a999e1e
https://doi.org/10.1161/circulationaha.118.039410
https://doi.org/10.1161/circulationaha.118.039410
Autor:
Robert-Yves Carlier, Françoise Chapon, Guillaume Nicolas, Valérie Biancalana, Pascal Laforêt, Maxime Fournier, Edoardo Malfatti, Claire Lefeuvre, Stéphane Schaeffer
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100597-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Elsevier, 2020, 24, ⟨10.1016/j.ymgmr.2020.100597⟩
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Elsevier, 2020, 24, ⟨10.1016/j.ymgmr.2020.100597⟩
Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2f420a031e15d4a12d27125b6e88090
http://www.sciencedirect.com/science/article/pii/S2214426920300434
http://www.sciencedirect.com/science/article/pii/S2214426920300434
Autor:
Stéphane Schaeffer, Marie-Alice Laville, Patrick Mordel, Françoise Chapon, Quentin Dupas, Stéphane Allouche, Marion Gérard
Publikováno v:
Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2017, 494 (1-2), pp.133-137. ⟨10.1016/j.bbrc.2017.10.066⟩
Biochemical and Biophysical Research Communications, Elsevier, 2017, 494 (1-2), pp.133-137. ⟨10.1016/j.bbrc.2017.10.066⟩
International audience; Mitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. We report the case of a 18-year-old man who presented with deafness, a myoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b0bd52adaa3bd8e65dc4a83b5e2001f
https://doi.org/10.1016/j.bbrc.2017.10.066
https://doi.org/10.1016/j.bbrc.2017.10.066
Publikováno v:
Clinica Chimica Acta. 493:S567
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae121c1d9448dc84db05e9ef08729560
https://doi.org/10.1016/j.cca.2019.03.1190
https://doi.org/10.1016/j.cca.2019.03.1190
Autor:
Philippe Jauzac, Anne Lombès, Marie-Hélène Read, Françoise Chapon, N. Leporrier, A. Mouadil, Stéphane Schaeffer, B. Deslandes, Stéphane Allouche, D. Herlicoviez, Laurent Coulbault
Publikováno v:
Biochemical and Biophysical Research Communications. 362:601-605
We describe a young woman who presented with a progressive myopathy since the age of 9. Spectrophotometric analysis of the respiratory chain in muscle tissue revealed combined and profound complex I, III, II + III, and IV deficiency ranging from 60%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de00ad421adfa18457b415a18540b8b1
https://doi.org/10.1016/j.bbrc.2007.08.040
https://doi.org/10.1016/j.bbrc.2007.08.040
Autor:
Gaël, Nicolas, Cyril, Pottier, Camille, Charbonnier, Lucie, Guyant-Maréchal, Isabelle, Le Ber, Jérémie, Pariente, Pierre, Labauge, Xavier, Ayrignac, Luc, Defebvre, David, Maltête, Olivier, Martinaud, Romain, Lefaucheur, Olivier, Guillin, David, Wallon, Boris, Chaumette, Philippe, Rondepierre, Nathalie, Derache, Guillaume, Fromager, Stéphane, Schaeffer, Pierre, Krystkowiak, Christophe, Verny, Snejana, Jurici, Mathilde, Sauvée, Marc, Vérin, Thibaud, Lebouvier, Olivier, Rouaud, Christel, Thauvin-Robinet, Stéphane, Rousseau, Anne, Rovelet-Lecrux, Thierry, Frebourg, Dominique, Campion, Didier, Hannequin
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 11), pp.3395-407. 〈10.1093/brain/awt255〉
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
Brain-A Journal of Neurology, 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 11), pp.3395-407. 〈10.1093/brain/awt255〉
Brain-A Journal of Neurology, Oxford University Press (OUP), 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
Brain-A Journal of Neurology, 2013, 136 (Pt 11), pp.3395-407. ⟨10.1093/brain/awt255⟩
International audience; Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first causal genes, SLC20A2 and PDGFRB, have r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58594ee47bec531d370b31c9ac373aac
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01133847
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01133847
Autor:
Sanson, Benoît1 (AUTHOR) sanson.b@chu-nice.fr, Stalens, Caroline2 (AUTHOR), Guien, Céline3 (AUTHOR), Villa, Luisa1 (AUTHOR), Eng, Catherine2 (AUTHOR), Rabarimeriarijaona, Sitraka4 (AUTHOR), Bernard, Rafaëlle4 (AUTHOR), Cintas, Pascal5 (AUTHOR), Solé, Guilhem6 (AUTHOR), Tiffreau, Vincent7 (AUTHOR), Echaniz-Laguna, Andoni8,9,10 (AUTHOR), Magot, Armelle11 (AUTHOR), Juntas Morales, Raul12 (AUTHOR), Boyer, François Constant13 (AUTHOR), Nadaj-Pakleza, Aleksandra14,15 (AUTHOR), Jacquin-Piques, Agnès16 (AUTHOR), Béroud, Christophe3,4 (AUTHOR), Sacconi, Sabrina1,17 (AUTHOR), The French FSHD registry collaboration group (AUTHOR), Acket, Blandine (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 3/2/2022, Vol. 17 Issue 1, p1-12. 12p.
Autor:
Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K., Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassan, Savvatis, Kostantinos, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Marijon, Eloi, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Sole, Guilhem
Publikováno v:
Circulation; 7/23/2019, Vol. 140 Issue 4, p293-302, 10p