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

Correction: Clinical, neuropathological, and genetic characterization of STUB1variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Autor: Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Durr, Alexandra, Stevanin, Giovanni, Brice, Alexis, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Charles, Perrine, Duyckaerts, Charles, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Goizet, Cyril, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, Marelli, Cecilia, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim, Guergueltcheva, Velina, Tournev, Ivalo, Pedraza Linarès, Olga Lucia, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Lossos, Alexander, Bassi, Maria-Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Kremer, Berry, Van Roon-Mom, Willeke, Roxburgh, Richard, Erichsen, Anne Kjersti, Tallaksen, Chantal, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S, Rouco Axpe, Idoia, Elsayed, Liena, Paucar, Martin Arce, Roumani, Samir, Bing-Wen, Soong, Reid, Evan, Suran, Nethisinghe, Warner, Thomas, Wood, Nicholas

Publikováno v: Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p2021-2021, 1p