Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Emmanuelle Lacène"'
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:
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:
Daniel J. Owens, Julien Messéant, Sophie Moog, Mark Viggars, Arnaud Ferry, Kamel Mamchaoui, Emmanuelle Lacène, Norma Roméro, Astrid Brull, Gisèle Bonne, Gillian Butler-Browne, Catherine Coirault
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 1, p 306 (2020)
Laminopathies are a clinically heterogeneous group of disorders caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamins A and C. The most frequent diseases associated with LMNA mutations are characterized by skeletal
Externí odkaz:
https://doaj.org/article/5d4ab6ff50ac482fb7d2fe94084af0e6
Autor:
Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
Publikováno v:
eLife, Vol 5 (2016)
Previously, we identified QIL1 as a subunit of mitochondrial contact site (MICOS) complex and demonstrated a role for QIL1 in MICOS assembly, mitochondrial respiration, and cristae formation critical for mitochondrial architecture (Guarani et al., 20
Externí odkaz:
https://doaj.org/article/c2eb5d8eb5b14293a741ed6e1db3525a
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:
Mirella Meregalli, Josée N. Lavoie, Viola Oorschot, Keith E. Schulze, Emily A. McKaige, Emily C. Baxter, Emmanuelle Lacène, Keyne Monro, Margit Fuchs, Rita J. Serrano, Avnika A. Ruparelia, Clara Yun Qi Lee, Caitlin Williams, Robert J. Bryson-Richardson, Georg Ramm, Yvan Torrente, Tanya Stojkovic
Publikováno v:
Autophagy
Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation. To elucidate the mechanism of disease in, and identify thera
Autor:
A. Madelaine, Julie Brocard, Mireille Cossée, Isabelle Marty, Anne-Cécile Coville, Michel Koenig, Christine Ioos, C. Thèze, John Rendu, Klaus Dieterich, Aurore Siegfried, Julien Fauré, Claude Cances, Henri Pegeot, Eloïse Baudou, Pascale Marcorelle, Norma B. Romero, Emmanuelle Lacène, Emmanuelle Uro Coste, Murielle Dobrzynski, Raul Juntas Morales, Justine Géraud
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, ⟨10.1136/jmedgenet-2019-106714⟩
Journal of Medical Genetics, 2020, ⟨10.1136/jmedgenet-2019-106714⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, ⟨10.1136/jmedgenet-2019-106714⟩
Journal of Medical Genetics, 2020, ⟨10.1136/jmedgenet-2019-106714⟩
BackgroundCongenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres.MethodsUsing next-generation sequencing, we identified three patients with pathogenic variants in the Tropon
Autor:
Sebastian Montealegre, Elise Lebigot, Hugo Debruge, Norma Romero, Bénédicte Héron, Pauline Gaignard, Antoine Legendre, Apolline Imbard, Stéphanie Gobin, Emmanuelle Lacène, Patrick Nusbaum, Arnaud Hubas, Isabelle Desguerre, Aude Servais, Pascal Laforêt, Peter van Endert, François Jérome Authier, Cyril Gitiaux, Pascale de Lonlay
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Neurology Genetics, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
article-version (Version of Record) 3
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Neurology Genetics, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Background and ObjectivesTo determine common clinical and biological traits in 2 individuals with variants in ISCU and FDX2, displaying severe and recurrent rhabdomyolyses and lactic acidosis.MethodsWe performed a clinical characterization of 2 disti
Autor:
Gillian Butler-Browne, Julien Messéant, Norma B. Romero, Emmanuelle Lacène, Sophie Moog, Catherine Coirault, Arnaud Ferry, Gisèle Bonne, Astrid Brull, Kamel Mamchaoui, Daniel J. Owens, Mark Viggars
BackgroundLaminopathies are a clinically heterogeneous group of disorders caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamins A and C. The most frequent diseases associated with LMNA mutations are characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::67f645ce85933f68a081a83c02116287
https://doi.org/10.1101/2020.08.06.239210
https://doi.org/10.1101/2020.08.06.239210
Autor:
Anne Boland, Tanya Stojkovic, Roseline Froissart, Cécile Masson, Norma B. Romero, Isabelle Nelson, Thierry Levade, Anthony Behin, Virginie Garcia, Emmanuelle Lacène, Gisèle Bonne, Nadine Ame van der Beek
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2019, 27 (3), pp.337-339. ⟨10.1038/s41431-018-0250-z⟩
European Journal of Human Genetics, 27(3), 337-339. Nature Publishing Group
European Journal of Human Genetics, 2019, 27 (3), pp.337-339. ⟨10.1038/s41431-018-0250-z⟩
European Journal of Human Genetics, 27(3), 337-339. Nature Publishing Group
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