Left atrial dysfunction as marker of poor outcome in patients with hypertrophic cardiomyopathy

Autor: Essayagh, Benjamin, Resseguier, Noémie, Michel, Nicolas, Casalta, Anne-Claire, Renard, Sébastien, Donghi, Valeria, Carbone, Andreina, Piazzai, Chiara, Ambrosi, Pierre, Levy, Franck, Martel, Hélène, Gérard, Hilla, Avierinos, Jean-François, N’Guyen, Karine, Habib, Gilbert

Publikováno v: In Archives of Cardiovascular Diseases February 2021 114(2):96-104

Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Autor: Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, De Broucker, Thomas, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexis, Singleton, Andrew, Durr, Alexandra, Belarabi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Ullmann, Urielle, Jardim, Laura, Guergueltcheva, Velina, Tournev, Ivalo, Soong, Bing-Wen, Linarès, Olga Lucia Pedraza, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Azulay, Jean-Philippe, Banneau, Guillaume, Boesfplug-Tanguy, Odile, Burgo, Andrea, Cazeneuve, Cécile, Darios, Frédéric, Depienne, Christel, Duyckaerts, Charles, Fontaine, Bertrand, Hazan, Jamilé, Koenig, Michel, Marelli, Cecilia, N'Guyen, Karine, Rodriguez, Diana, Sittler, Annie, Verny, Christophe, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Koutsis, Georgios, Lossos, Alexander, Antenora, Antonella, Bassi, Maria Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Lieto, Maria, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Roxburgh, Richard, Erichsen, Anne Kjersti, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Axpe, Idoia Rouco, Roumani, Samir, Kremer, Berry, Van Roon-Mom, Willeke, Boukhris, Amir, Mhiri, Chokri, Karabay, Arzu, Nethisinghe, Suran, Okane, Cahir, Oliva, Megan, Reid, Evan, Warner, Thomas, Wood, Nicholas

Publikováno v: JAMA neurology
JAMA neurology, American Medical Association, 2018, 75 (5), pp.591--599. ⟨10.1001/jamaneurol.2017.5121⟩
JAMA neurology, Vol. 75, no.5, p. 591-599 (2018)
JAMA neurology, 2018, 75 (5), pp.591--599. ⟨10.1001/jamaneurol.2017.5121⟩

International audience; Importance: Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b5e26c4d72114d9c2b9494e4124c6f
http://hdl.handle.net/11577/3294486

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

Autor: Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C, Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N'Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2015, 138 (Pt 9), pp.e377
Brain-A Journal of Neurology, Oxford University Press (OUP), 2015, 138 (Pt 9), pp.e377

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cc5309ad8b2d7d27207b4ab56972869f
https://hal.science/hal-01218555

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autor: Pilliod, Julie, Moutton, Sébastien, Lavie, Julie, Maurat, Elise, Hubert, Christophe, Bellance, Nadège, Anheim, Mathieu, Forlani, Sylvie, Mochel, Fanny, N'Guyen, Karine, Thauvin-Robinet, Christel, Verny, Christophe, Milea, Dan, Lesca, Gaetan, Koenig, Michel, Rodriguez, Diana, Houcinat, Nada, Van-Gils, Julie, Durand, Christelle, Guichet, Agnès, Barth, Magalie, Bonneau, Dominique, Convers, Philippe, Maillart, Elisabeth, Guyant-Maréchal, Lucie, Hannequin, Didier, Fromager, Guillaume, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Valence, Stephanie, Charles, Perrine, Berquin, Patrick, Rooryck, Caroline, Bouron, Julie, Brice, Alexis, Lacombe, Didier, Rossignol, Rodrigue, Stevanin, Giovanni, Benard, Giovanni, Burglen, Lydie, Durr, Alexandra, Goizet, Cyril, Coupry, Isabelle

Publikováno v: Annals of Neurology
Annals of Neurology, Wiley, 2015, 78 (6), pp.871-886. ⟨10.1002/ana.24509⟩
Annals of Neurology, 2015, 78 (6), pp.871-886. ⟨10.1002/ana.24509⟩

International audience; OBJECTIVE:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the description of numerous protein d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::50a88e269b0a52c9fdb9faec76bb2c06
https://pubmed.ncbi.nlm.nih.gov/26288984

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