Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Guy Brochier"'
Autor:
Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)
Abstract Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course
Externí odkaz:
https://doaj.org/article/aa0b0640d52441babc07367bace6ddce
Autor:
Susana Boluda, Karima Mokhtari, Bruno Mégarbane, Djillali Annane, Bertrand Mathon, Albert Cao, Clovis Adam, Alexandre Androuin, Franck Bielle, Guy Brochier, Frédéric Charlotte, Lydia Chougar, Khalid Hamid El Hachimi, Marc Eloit, Stéphane Haïk, Dominique Hervé, Amal Kasri, Valentin Leducq, Stéphane Lehéricy, Etienne Levavasseur, Christian Lobsiger, Geoffroy Lorin de La Grandmaison, Isabelle Malet, Isabelle Malissin, Stéphane Marot, Serge Marty, Philippe Pérot, Isabelle Plu, Annick Prigent, Lev Stimmer, Marie-Claude Potier, Anne-Geneviève Marcelin, Benoît Delatour, Charles Duyckaerts, Danielle Seilhean
Publikováno v:
Free Neuropathology, Vol 4 (2023)
In a neuropathological series of 20 COVID-19 cases, we analyzed six cases (three biopsies and three autopsies) with multiple foci predominantly affecting the white matter as shown by MRI. The cases presented with microhemorrhages evocative of small a
Externí odkaz:
https://doaj.org/article/05edf363d5d14e9389cc5d0000462bdb
Autor:
Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)
Abstract Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and
Externí odkaz:
https://doaj.org/article/93fd2c97c0914ab89cce0bad8ec56750
Autor:
Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)
Abstract Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetical
Externí odkaz:
https://doaj.org/article/c73f5437deee409b931e8b9a6c5226cb
Autor:
Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero, Giovanni Antonini
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-7 (2018)
Externí odkaz:
https://doaj.org/article/7a029707b69c4478a8e7c6f3ea6645c9
Autor:
Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A Caldwell, Rachel A Policke, Esraa Aldkheil, Christopher E Berndsen, Nathan T Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0186642 (2017)
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC muta
Externí odkaz:
https://doaj.org/article/4f6a22f949c9438a89e5b809cc20de57
Autor:
Jorge A. Bevilacqua, Juan Pablo Contreras, Alejandra Trangulao, Úrsula Hernández, Guy Brochier, Jorge Díaz, Ricardo Hughes, Mario Campero, Norma B. Romero
Publikováno v:
Neuromuscular Disorders. 32:687-691
Autor:
Jorge A Bevilacqua, Edoardo Malfatti, Clémence Labasse, Guy Brochier, Angeline Madelaine, Emmanuelle Lacène, Bérénice Doray, Pascal Laforêt, Bruno Eymard, John Rendu, Norma B Romero
Publikováno v:
Journal of neuropathology and experimental neurology. 81(4)
Autor:
Guy Brochier, Jésus Gonzalez-Bermejo, Martin Dres, Hicham Masmoudi, Olivier Thibaudeau, Jalal Assouad, Laure Wingertsmann, Thomas Similowski, Thierry Maisonobe, Harry Etienne
Publikováno v:
Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft. 239
Background Diaphragm pacing allows certain ventilator-dependent patients to achieve weaning from mechanical ventilation. The reference method consists in implanting intrathoracic contact electrodes around the phrenic nerve during video-assisted thora
Autor:
Jeanne Lainé, Pascale Guicheney, Guy Brochier, Stéphane Vassilopoulos, Mai Thao Bui, Agathe Franck, E. Lacène, Eline Lemerle, Norma B. Romero, Marc Bitoun, Gilles Moulay, Sofia Benkhelifa-Ziyyat, Michael Trichet, Christel Gentil
Publikováno v:
Molecular Biology of the Cell
Molecular Biology of the Cell, American Society for Cell Biology, 2019, 30 (5), pp.579-590. ⟨10.1091/mbc.E18-11-0718⟩
Molecular Biology of the Cell, 2019, 30 (5), pp.579-590. ⟨10.1091/mbc.E18-11-0718⟩
Molecular Biology of the Cell, American Society for Cell Biology, 2019, 30 (5), pp.579-590. ⟨10.1091/mbc.E18-11-0718⟩
Molecular Biology of the Cell, 2019, 30 (5), pp.579-590. ⟨10.1091/mbc.E18-11-0718⟩
International audience; Clathrin plaques are stable features of the plasma membrane observed in several cell types. They are abundant in muscle, where they localize at costameres that link the contractile apparatus to the sarcolemma and connect the s