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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

Participación de los padres en las unidades de neonatología: beneficios y barreras

Autor: Sánchez Sáez del Burgo, Andrea

Publikováno v: Addi. Archivo Digital para la Docencia y la Investigación
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Actualmente se percibe un incremento en la incidencia de nacimientos prematuros y un aumento consecuente de ingresos en las Unidades Neonatales (UN), lo que hace necesario un mayor grado de atención y una mayor calidad de la misma dentro de estas un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::163011a36ca924e8006907d0aaf44fc4
http://hdl.handle.net/10810/19318

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A synthetic approach to the plakortones

Autor: Bittner, Christian, Burgo, Andrea, Murphy, Patrick J., Sung, Chi.H., Thornhill, Andrew J.

Publikováno v: In Tetrahedron Letters 1999 40(17):3455-3456