Relative exchangeable copper: A new highly sensitive and highly specific biomarker for Wilson's disease diagnosis

Autor: El Balkhi, Souleiman, Trocello, Jean-Marc, Poupon, Joël, Chappuis, Philippe, Massicot, France, Girardot-Tinant, Nadège, Woimant, France

Publikováno v: In Clinica Chimica Acta 20 November 2011 412(23-24):2254-2260

A recessive ataxia diagnosis algorithm for the next generation sequencing era

Autor: Renaud, Mathilde, Tranchant, Christine, Group, RADIAL Working, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A, Bompaire, Flavie, Bonneau, Dominique, Martin, Juan Vicente Torres, Bonneau, Patrizia, Boycott, Kym M, Bras, Jose, Brais, Bernard, Brigatti, Karlla W, Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Mochel, Fanny, Dotti, Maria Teresa, El-Euch, Ghada, Elmalik, Salah A, Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin-Baer, Sharon, Heimdal, Ketil Riddervold, Synofzik, Matthis, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu-Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, van de Warrenburg, Bart, Lu, Chin-Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Pandolfo, Massimo, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A, Sousa, Sergio, Stanier, Philip, Stoppa-Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Koenig, Michel, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I, Yahalom, Gilad, Yoon, Grace, Young, Millie, Kolb, Stefan A, Anheim, Mathieu

Publikováno v: Annals of Neurology
Annals of Neurology, Wiley, 2017, 82 (6), pp.892-899. ⟨10.1002/ana.25084⟩
Annals of Neurology, Wiley, 2017, 82 (6), pp.892--899. ⟨10.1002/ana.25084⟩
Annals of Neurology, 82, 892-899
Annals of Neurology, 82, 6, pp. 892-899
Annals of neurology 82(6), 892-899 (2017). doi:10.1002/ana.25084

International audience; OBJECTIVE: Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype of a patient has been devel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aeee06d99441de2322bfdd77ca3e0c8
https://pubmed.ncbi.nlm.nih.gov/29059497

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Complexité de l’observance médicamenteuse dans la maladie de Wilson : apport de l’étude Wilobs

Autor: Jacquelet, Elodie, Demain, Adèle, Girardot-Tinant, Nadège, Machado, Carla, Pheulpin, Marie-Christine, Poujois, Aurélia, Woimant, France

Publikováno v: In Revue Neurologique March 2017 173 Supplement 2:S143-S143

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