Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Jean-Marie Mussini"'
Autor:
Régis Bouquié, Laura Wainstein, Paul Pilet, Jean-Marie Mussini, Guillaume Deslandes, Johann Clouet, Eric Dailly, Pascale Jolliet, Caroline Victorri-Vigneau
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e113991 (2014)
Self-injection of high-dose buprenorphine is responsible for well-described complications. In 2011, we have been alerted by unusual but serious cutaneous complication among injection buprenorphine users. A prospective data collection identified 30 ca
Externí odkaz:
https://doaj.org/article/a28f45a285c74b21826c73586ad712f5
Autor:
Nidia Alvarez-Rueda, Ariane Desselle, Denis Cochonneau, Tanguy Chaumette, Béatrice Clemenceau, Stéphanie Leprieur, Gwenola Bougras, Stéphane Supiot, Jean-Marie Mussini, Jacques Barbet, Julie Saba, François Paris, Jacques Aubry, Stéphane Birklé
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e25220 (2011)
BackgroundMonoclonal antibodies (mAb) against GD2 ganglioside have been shown to be effective for the treatment of neuroblastoma. Beneficial actions are, however, associated with generalized pain due to the binding of anti- GD2 mAbs to peripheral ner
Externí odkaz:
https://doaj.org/article/67be23ce60fa41a9bf4f0e5624437e6b
Autor:
Christian Agard, Mohamed Hamidou, Maxime Leroy, Julie Graveleau, Alexandra Espitia-Thibault, Nowenn Le Lan, Claire Toquet, Antoine Néel, Mathieu Lacou, Agathe Masseau, Jean-Marie Mussini, Christelle Volteau
Publikováno v:
Rheumatology. 60:699-707
Objectives This study aimed to examine the sensitivity of muscle biopsy (MB) in ANCA-associated vasculitis (AAV), identify factors predicting MB positivity and assess the prognostic value of a positive MB. Methods We conducted a single-centre retrosp
Autor:
Jean-Marie Mussini, Agathe Masseau, Alexandra Espitia-Thibault, Olivier Espitia, Claire Toquet, Mohamed Hamidou, Antoine Néel
Publikováno v:
Autoimmunity Reviews. 16:154-158
Objective Muscular impairment is a rare systemic manifestation of SS that is rarely described in the literature and classically non-specific, both clinically and histologically. We reviewed the cases of 4 patients with primary SS presenting with myos
Autor:
Laure Simon, Stéphane Bézieau, Sébastien Schmitt, Xenia Latypova, Madeleine Joubert, Mathilde Nizon, Claire Beneteau, Jean-Michel Vallat, Benjamin Cogné, Sandra Mercier, Bertrand Isidor, Yann Péréon, Marie Vincent, Sébastien Küry, Jean-Michel Liet, Marianne Coste, Pierre Boisseau, Jean-Marie Mussini, Catherine Larrose
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (1), pp.150-152. ⟨10.1038/ejhg.2016.142⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (1), pp.150-152. ⟨10.1038/ejhg.2016.142⟩
International audience; Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound
Autor:
Serge Herson, Bruno Eymard, Brigitte Ranque, Pascal Laforêt, Dalia Dimitri, Thierry Maisonobe, Olivier Benveniste, Anthony Behin, Emmanuel Fournier, Jean-Marie Mussini, Christian Pagnoux, Odile Dubourg, Thomas Papo
Publikováno v:
Neuromuscular Disorders. 18:493-500
New classification of idiopathic inflammatory myopathy (IIM) defined three major entities, polymyositis (PM), dermatomyositis (DM) and sporadic inclusion body myositis (s-IBM). We report the clinical, electrophysiological and pathological characteris
Autor:
Jean-François Mosnier, Alain L. Servin, Anne Jarry, Nathalie Caroff, Lise Crémet, Alain Reynaud, Christian L. Laboisse, Chantal Bou-Hanna, Jean-Marie Mussini, Vanessa Liévin-Le Moal
Publikováno v:
The FASEB Journal. 29
Autor:
Albert David, Xavier Ferrer, Jean-Marie Mussini, Sandra Mercier, Michelle Coquet, Sini Penttilä, Armelle Magot, Bjarne Udd, Anne Vital, Bertrand Isidor, Yann Péréon, Florence Caillon
Publikováno v:
Musclenerve. 52(4)
Introduction: X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently reported mutations in the VMA21 gene. Methods: Four men from 2 separate families were studied. The clinical presentation, genetic data,
Autor:
Damien Sternberg, Daniel Hantaï, Armelle Magot, Yann Péréon, Jean-Marie Mussini, Frédéric Chevessier
Publikováno v:
Neuromuscular disorders : NMD. 25(10)
Brody disease was first described as a benign pseudo-myotonic disorder with muscular stiffness, which increased with exercise. Biochemical and genetic studies have pointed out its close relationship to a functional defect of the fast-twitch sarcoplas
Autor:
W.H. Irwin McLean, Sébastien Küry, Stéphane Bézieau, Uchenna Agbim, Florence Caillon, Jacinda B. Sampson, Arnold Munnich, Perrine Brunelle, Mythily Ganapathi, Christel Thauvin, Rosemarie Watson, Nonhlanhla P. Khumalo, Armelle Magot, Sandra Mercier, Antoine Hamel, Nathalie Bodak, Thomas Besnard, Eve Puzenat, Flora Breheret, Jean Marie Mussini, Valérie Cormier-Daire, Christian L. Laboisse, Maeve A. McAleer, Juliette Piard, Bongani M. Mayosi, Romain K. Gherardi, Frances J.D. Smith, Alice Goldenberg, Emmanuelle Salort-Campana, Grainne M. O'Regan, Nadem Soufir, Yann Péréon, Julie Perrier, Albert David, Alan D. Irvine, Dominique Figarella-Branger, Emmanuelle Fleurence, Bruno Eymard, Peter L. Nagy, Brigitte Chabrol, Caroline Kannengiesser, Kurenai Tanji, Christina Ulane, Jean Yves Mahé, Stuart A. MacGowan, Sébastien Barbarot, Laurence Faivre, Cédric Le Caignec, Jeanine Igual, Chantal Bou-Hanna, Dominique Israël-Biet, C. Méni, Jeffrey G. Odel, Stéphanie Mallet
Publikováno v:
Orphanet Journal of Rare Diseases
Background Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f0d9adfd16251a397b56b92a4e8b25
http://hdl.handle.net/11427/34599
http://hdl.handle.net/11427/34599