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Human Mutation, ISSN 1059-7794, 01/2018, Volume 39, Issue 1, pp. 140 - 151
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2015, Volume 78, Issue 6, pp. 871 - 886
Journal Article
Human Mutation, ISSN 1059-7794, 10/2011, Volume 32, Issue 10, pp. 1118 - 1127
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2017, Volume 26, Issue 4, pp. 674 - 685
Journal Article
by Coutelier, Marie and Hammer, Monia B and Stevanin, Giovanni and Monin, Marie-Lorraine and Davoine, Claire-Sophie and Mochel, Fanny and Labauge, Pierre and Ewenczyk, Claire and Ding, Jinhui and Gibbs, J. Raphael and Hannequin, Didier and Melki, Judith and Toutain, Annick and Laugel, Vincent and Forlani, Sylvie and Charles, Perrine and Broussolle, Emmanuel and Thobois, Stéphane and Afenjar, Alexandra and Anheim, Mathieu and Calvas, Patrick and Castelnovo, Giovanni and De Broucker, Thomas and Vidailhet, Marie and Moulignier, Antoine and Ghnassia, Robert T and Tallaksen, Chantal and Mignot, Cyril and Goizet, Cyril and Le Ber, Isabelle and Ollagnon-Roman, Elisabeth and Pouget, Jean and Brice, Alexis and Singleton, Andrew and Durr, Alexandra and Belarabi, Soraya and Hamri, Abdelmadjid and Tazir, Meriem and Boesch, Sylvia and Pandolfo, Massimo and Ullmann, Urielle and Jardim, Laura and Guergueltcheva, Velina and Tournev, Ivalo and Soong, Bing-Wen and Linarès, Olga Lucia Pedraza and Nielsen, Jørgen E and Svenstrup, Kirsten and Zaki, Maha and Azulay, Jean-Philippe and Banneau, Guillaume and Boesfplug-Tanguy, Odile and Burgo, Andrea and Cazeneuve, Cécile and Darios, Frédéric and Depienne, Christel and Duyckaerts, Charles and Fontaine, Bertrand and Hazan, Jamilé and Koenig, Michel and Marelli, Cecilia and N'guyen, Karine and Rodriguez, Diana and Sittler, Annie and Verny, Christophe and Bauer, Peter and Schöls, Lüdger and Schüle, Rebecca and Koutsis, Georgios and Lossos, Alexander and Antenora, Antonella and Bassi, Maria Teresa and Basso, Manuela and Bertini, Enrico and Brusco, Alfredo and Casali, Carlo and Casari, Giorgio and Criscuolo, Chiara and Filla, Alessandro and Lieto, Maria and Orsi, Laura and Santorelli, Filippo M and Valente, Enza Maria and Vavla, Marinela and Vazza, Giovanni and Megarbane, André and Benomar, Ali and Roxburgh, Richard and Erichsen, Anne Kjersti and Alonso, Isabel and Coutinho, Paula and Loureiro, José Léal and Sequeiros, Jorge and Salih, Mustapha and Kostic, Vladimir S and Axpe, Idoia Rouco and Roumani, Samir and Kremer, Berry and Van Roon-Mom, Willeke and Boukhris, Amir and ... and Spastic Paraplegia Ataxia Network and Spastic Paraplegia and Ataxia Network and for the Spastic Paraplegia and Ataxia Network
JAMA Neurology, ISSN 2168-6149, 05/2018, Volume 75, Issue 5, pp. 591 - 599
IMPORTANCE Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In... 
PHENOTYPE | FRAMEWORK | DIAGNOSIS | CLINICAL NEUROLOGY | FEATURES | Life Sciences | Online First | Original Investigation | Research
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 983 - 990
Journal Article