Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Norma Beatriz Romero"'
Autor:
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical m
Externí odkaz:
https://doaj.org/article/2ecd19f0cda141cfa0923df68ca7b619
Autor:
Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anaïs Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero
Publikováno v:
EBioMedicine, Vol 87, Iss , Pp 104400- (2023)
Externí odkaz:
https://doaj.org/article/6782e268e33b41838113b3d73feda37d
Autor:
Teresinha Evangelista, Malick Kandji, Emmanuelle Lacene, Anaïs Chanut, Mai Thao Bui, Rudy Marty, Laurent Buffat, Kenneth Knoblauch, Brian B. Rudkin, Norma Beatriz Romero
Publikováno v:
EBioMedicine, Vol 86, Iss , Pp 104367- (2022)
Summary: Background: Normative values for different morphometric parameters of muscle fibres during paediatric development, i.e. from 0 to 18 years, are currently unavailable. They would be of major importance to accurately evaluate pathological chan
Externí odkaz:
https://doaj.org/article/c40daf88736542c2be1493893b156c48
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:
Arlek M. González-Jamett, Ximena Baez-Matus, María José Olivares, Fernando Hinostroza, Maria José Guerra-Fernández, Jacqueline Vasquez-Navarrete, Mai Thao Bui, Pascale Guicheney, Norma Beatriz Romero, Jorge A. Bevilacqua, Marc Bitoun, Pablo Caviedes, Ana M. Cárdenas
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Abstract Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a congenital myopathy
Externí odkaz:
https://doaj.org/article/9c9e6b6e323144c598b2710c66121577
Autor:
Pascale de Lonlay, Asmaa Mamoune, Yamina Hamel, Michel Bahuau, Sabrina Vergnaud, Moniqu Piraud, Lætitia Lallemand, Marie-Ange Nguyen More, Mai Thao Vio, Norma Beatriz Romero
Publikováno v:
Нервно-мышечные болезни, Vol 5, Iss 1, Pp 10-18 (2015)
Rhabdomyolysis results from the rapid breakdown of skeletal muscle fibers, which leads to leakage of potentially toxic cellular contents into the systemic circulation. Acquired causes by direct injury to the sarcolemma are the most frequent. The inhe
Externí odkaz:
https://doaj.org/article/3a3e278c74614a27b7b77a74db4a0fbc
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:
Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frederic Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet‐Berguerand, Norma Beatriz Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte, Edgar R Gomes
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 11, Pp 1455-1475 (2014)
Abstract Mutations in amphiphysin‐2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads. Mis‐splicing of am
Externí odkaz:
https://doaj.org/article/2c590d55100f444d85dce06819d1a480
Autor:
Norma Beatriz Romero, Mai Thao Bui
Publikováno v:
médecine/sciences. 38:17-28
Neuromuscular diseases with neonatal or perinatal onset are usually very severe. Their diagnosis requires rigorous studies in order to determine the cause of the disease and thus help to establish the vital prognosis. Neonatal muscle biopsy studies a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe4a97ba0c5609c58d47fed945f4c116
https://doi.org/10.1051/medsci/2022173
https://doi.org/10.1051/medsci/2022173