Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Anne-Sophie Brunet"'
Autor:
Elodie Peyroux, Nelly Santaella, Emmanuel Broussolle, Caroline Rigard, Emilie Favre, Anne-Sophie Brunet, Muriel Bost, Alain Lachaux, Caroline Demily
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0173467 (2017)
Studies focusing on neuropsychological impairments in Wilson's disease (WD) have highlighted that patients showing neurological signs present significant deficits in a wide range of cognitive domains. Attentional and executive impairments have also b
Externí odkaz:
https://doaj.org/article/f60f20d864b54364958c573bb3329c7d
Autor:
Aurélia Poujois, Rodolphe Sobesky, Wassilios G. Meissner, Anne-Sophie Brunet, Emmanuel Broussolle, Chloé Laurencin, Laurence Lion-François, Olivier Guillaud, Alain Lachaux, François Maillot, Jérémie Belin, Ephrem Salamé, Claire Vanlemmens, Bruno Heyd, Céline Bellesme, Dalila Habes, Christophe Bureau, Fabienne Ory-Magne, Pascal Chaine, Jean-Marc Trocello, Daniel Cherqui, Didier Samuel, Victor de Ledinghen, Jean-Charles Duclos-Vallée, France Woimant
Publikováno v:
Neurology
Neurology, American Academy of Neurology, 2020, 94 (21), pp.e2189--e2202. ⟨10.1212/wnl.0000000000009474⟩
Neurology, 2020, 94 (21), pp.e2189--e2202. ⟨10.1212/wnl.0000000000009474⟩
Neurology, American Academy of Neurology, 2020, 94 (21), pp.e2189--e2202. ⟨10.1212/wnl.0000000000009474⟩
Neurology, 2020, 94 (21), pp.e2189--e2202. ⟨10.1212/wnl.0000000000009474⟩
ObjectiveTo evaluate the effect of liver transplantation (LT) in patients with Wilson disease (WD) with severe neurologic worsening resistant to active chelation.MethodsFrench patients with WD who underwent LT for pure neurologic indication were retr
Autor:
Eduardo Couchonnal, Sophie Bouchard, Thomas Damgaard Sandahl, Cecile Pagan, Laurence Lion-François, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broué, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Abdelouahed Belmalih, Aurelia Poujois, Corinne Collet, Micheline Misrahi, Bruno Francou, Anne Sophie Brunet, Alain Lachaux, Muriel Bost
Publikováno v:
Couchonnal, E, Bouchard, S, Sandahl, T D, Pagan, C, Lion-François, L, Guillaud, O, Habes, D, Debray, D, Lamireau, T, Broué, P, Fabre, A, Vanlemmens, C, Sobesky, R, Gottrand, F, Bridoux-Henno, L, Belmalih, A, Poujois, A, Brunet, A S, Lachaux, A & Bost, M 2021, ' Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64(10) (2021) 104305] ', European Journal of Medical Genetics, vol. 64, no. 11, pp. 104341 . https://doi.org/10.1016/j.ejmg.2021.104341
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (11), pp.104341. ⟨10.1016/j.ejmg.2021.104341⟩
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (11), pp.104341. ⟨10.1016/j.ejmg.2021.104341⟩
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a648abc67dca1b7458242e2fc0865d
http://hdl.handle.net/20.500.12278/123774
http://hdl.handle.net/20.500.12278/123774
Autor:
Pierre Broué, Anne Sophie Brunet, Dominique Debray, Alain Lachaux, Muriel Bost, Abdelouahed Belmalih, Thierry Lamireau, Eduardo Couchonnal, Olivier Guillaud, Claire Vanlemmens, Dalila Habes, Frédéric Gottrand, Laurence Lion-François, Aurélia Poujois, Jérôme Dumortier, Emmanuel Jacquemin, Alexandre Fabre, Rodolphe Sobesky, Laure Bridoux-Henno
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2021, ⟨10.1097/mpg.0000000000003196⟩
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2021, ⟨10.1097/mpg.0000000000003196⟩
OBJECTIVES To describe a cohort of Wilson disease (WD) pediatric cases, and to point out the diagnostic particularities of this age group and the long-term outcome. METHODS Clinical data of 182 pediatric patients included in the French WD national re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab9f3bd34236e7e2308481f18d82264
http://hdl.handle.net/20.500.12278/109258
http://hdl.handle.net/20.500.12278/109258
Autor:
Eduardo Couchonnal, Sophie Bouchard, Thomas Damgaard Sandahl, Cecile Pagan, Laurence Lion-François, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broué, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Abdelouahed Belmalih, Aurelia Poujois, Corinne Collet, Bruno Francou, Anne Sophie Brunet, Alain Lachaux, Micheline Misrahi, Muriel Bost
Publikováno v:
European Journal of Medical Genetics. 65:104453
Autor:
Laurence Lion-François, Emilie Favre, Claire Vanlemmens, Anne-Sophie Brunet, Marjorie Bonneton, Alain Lachaux, Lise Bouillet, Marie Canton
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 64:436-439
Cognitive impairment in adult patients experiencing Wilson disease is now more clearly described, even in liver forms of the disease. Although this condition can appear during childhood, the cognitive abilities of children have not yet been reported
Autor:
Muriel Bost, Olivier Guillaud, Anne-Sophie Brunet, Isabelle Mallet, Sophie Heissat, Martine Pelosse, Jérôme Dumortier, Christine Rivet, Alain Lachaux
Publikováno v:
Liver International
Liver International, Wiley-Blackwell, 2018, 38 (2), pp.350-357. ⟨10.1111/liv.13520⟩
Liver International, Wiley-Blackwell, 2018, 38 (2), pp.350-357. ⟨10.1111/liv.13520⟩
Background & Aims Measuring of the relative exchangeable copper seems to be a promising tool for the diagnosis of Wilson disease. The aim of our study is to determine the performance of REC for the diagnosis of Wilson disease in a population of patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3220e19209add729544662239fd4204f
https://hal.archives-ouvertes.fr/hal-01847490
https://hal.archives-ouvertes.fr/hal-01847490
Autor:
Khémary Um, Sophie Heissat, Anne-Sophie Brunet, Alain Lachaux, Muriel Bost, Olivier Guillaud, Elisabeth Mintz, Jérôme Dumortier, Valérie Hervieu, Amélie Harel
Publikováno v:
Journal of Trace Elements in Medicine and Biology
Journal of Trace Elements in Medicine and Biology, Elsevier, 2018, 50, pp.652-657. ⟨10.1016/j.jtemb.2018.06.013⟩
Journal of Trace Elements in Medicine and Biology, 2018, 50, pp.652-657. ⟨10.1016/j.jtemb.2018.06.013⟩
Journal of Trace Elements in Medicine and Biology, Elsevier, 2018, 50, pp.652-657. ⟨10.1016/j.jtemb.2018.06.013⟩
Journal of Trace Elements in Medicine and Biology, 2018, 50, pp.652-657. ⟨10.1016/j.jtemb.2018.06.013⟩
International audience; Wilson's disease (WD) is caused by mutations in the ATP7B gene responsible for a toxic copper overload mainly in the liver and the central nervous system. Phenotypic heterogeneity may challenge the diagnostic confirmation. Exc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637131118f17ca9f0ab2f6ceadcb1c99
https://hal.archives-ouvertes.fr/hal-01892445
https://hal.archives-ouvertes.fr/hal-01892445
Autor:
Muriel Bost, Frédéric V. Valla, Anne-Sophie Brunet, Nathalie Richard, Fleur Cour-Andlauer, Olivier Boillot, Alain Lachaux, Etienne Javouhey, Najla Rustom, Fabienne Bordet
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 58:160-164
Objectives: Because fulminant Wilson disease (WD) has an extremely poor prognosis, the use of liver support that can bridge patients to liver transplantation is lifesaving. We report the experience of albumin dialysis in acute liver failure (ALF) cau
Publikováno v:
Revue Neurologique. 175:S111
Introduction La maladie de Wilson (MW) est une affection genetique rare due a une accumulation systemique de cuivre. Un registre national permet de collecter les donnees rares et precieuses des patients. Objectifs Decrire la cohorte de patients Wilso