Zobrazeno 1 - 10
of 10
pro vyhledávání: '"François Jérome Authier"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb7193ea7e34da727027108b89bbc8c
https://pubmed.ncbi.nlm.nih.gov/35079622
https://pubmed.ncbi.nlm.nih.gov/35079622
Autor:
Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-10 (2023)
Abstract Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres. I
Externí odkaz:
https://doaj.org/article/5fea3216d6b44beab3e6bcbaf02277ca
Autor:
Mehdi Aoun Sebaiti, Mathieu Hainselin, Yannick Gounden, Carmen Adella Sirbu, Slobodan Sekulic, Lorenzo Lorusso, Luis Nacul, François Jérôme Authier
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
Abstract Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is commonly associated with cognitive complaints. To bring out the neuropsychological symptomatology inherent to ME/CFS, we conducted a systematic review according to PRISMA and MOO
Externí odkaz:
https://doaj.org/article/91f03e092912490e98ec7e3508793df4
Autor:
Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-10 (2021)
Abstract The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction. Abnormal RyR1 activity compromises normal musc
Externí odkaz:
https://doaj.org/article/5cf31dd78b474640baaf16ef899f028a
Autor:
Laurent Bélec, François-Jérome Authier, Bénédicte Chazaud, Cécile Piédouillet, Georgia Barlovatz-Meimon, Romain K. Gherardi
Publikováno v:
Journal of Neuropathology and Experimental Neurology. 56:651-663
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e9912e00dda1b1bdbfafc785c2c8e78
https://doi.org/10.1097/00005072-199706000-00003
https://doi.org/10.1097/00005072-199706000-00003
Autor:
Bernard, De Jonghe, Tarek, Sharshar, Jean-Pascal, Lefaucheur, François-Jérome, Authier, Isabelle, Durand-Zaleski, Mohamed, Boussarsar, Charles, Cerf, Estelle, Renaud, Francine, Mesrati, Jean, Carlet, Jean-Claude, Raphaël, Hervé, Outin, Sylvie, Bastuji-Garin
Publikováno v:
JAMA. 288(22)
Although electrophysiologic and histologic neuromuscular abnormalities are common in intensive care unit (ICU) patients, the clinical incidence of ICU-acquired neuromuscular disorders in patients recovering from severe illness remains unknown.To asse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::711a0d26a2cf058a5bef6d4c7d152de7
https://pubmed.ncbi.nlm.nih.gov/12693401
https://pubmed.ncbi.nlm.nih.gov/12693401
Autor:
Perla C. Reyes-Fernandez, Baptiste Periou, Xavier Decrouy, Fréderic Relaix, François Jérôme Authier
Publikováno v:
Skeletal Muscle, Vol 9, Iss 1, Pp 1-15 (2019)
Abstract Background The quantitative analysis of muscle histomorphometry has been growing in importance in both research and clinical settings. Accurate and stringent assessment of myofibers’ changes in size and number, and alterations in the propo
Externí odkaz:
https://doaj.org/article/85485c9c0ec94acd97533f385af768b4
Autor:
Muriel Rigolet, Cyrielle Hou, Yasmine Baba Amer, Jessie Aouizerate, Baptiste Periou, Romain K Gherardi, Peggy Lafuste, François Jérôme Authier
Publikováno v:
RMD Open, Vol 5, Iss 1 (2019)
Objective The role of interferons (IFN) in the pathophysiology of primary inflammatory and dysimmune myopathies (IDM) is increasingly investigated, notably because specific neutralisation approaches may constitute promising therapeutic tracks. In pre
Externí odkaz:
https://doaj.org/article/1864723bf363440e84ffa04e75c46a1a
Autor:
Luis Nacul, François Jérôme Authier, Carmen Scheibenbogen, Lorenzo Lorusso, Ingrid Bergliot Helland, Jose Alegre Martin, Carmen Adella Sirbu, Anne Marit Mengshoel, Olli Polo, Uta Behrends, Henrik Nielsen, Patricia Grabowski, Slobodan Sekulic, Nuno Sepulveda, Fernando Estévez-López, Pawel Zalewski, Derek F. H. Pheby, Jesus Castro-Marrero, Giorgos K. Sakkas, Enrica Capelli, Ivan Brundsdlund, John Cullinan, Angelika Krumina, Jonas Bergquist, Modra Murovska, Ruud C. W. Vermuelen, Eliana M. Lacerda
Publikováno v:
Medicina, Vol 57, Iss 5, p 510 (2021)
Designed by a group of ME/CFS researchers and health professionals, the European Network on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (EUROMENE) has received funding from the European Cooperation in Science and Technology (COST)—COST actio
Externí odkaz:
https://doaj.org/article/85ef4fd1050d461988e79a4d46e58370
Autor:
Romain Kroum Gherardi, Housam eEidi, Guillemette eCrépeaux, François Jérôme Authier, Josette eCadusseau
Publikováno v:
Frontiers in Neurology, Vol 6 (2015)
Aluminum oxyhydroxide (alum) is a crystaline compound widely used as an immunologic adjuvant of vaccines. Concerns linked to the use of alum particles emerged following recognition of their causative role in the so-called macrophagic myofasciitis (MM
Externí odkaz:
https://doaj.org/article/e92b8d316e0743288e72581af83d22e8