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TITLE: Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
AUTHORS: Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 7
INDEXED IN: Scopus WOS
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TITLE: Early Parkinson's Disease Phenotypes Tailored by Personality, Behavior, and Motor Symptoms
AUTHORS: Meira, Bruna; Lhommee, Eugenie; Schmitt, Emmanuelle; Klinger, Helene; Bichon, Amelie; Pelissier, Pierre; Anheim, Mathieu; Tranchant, Christine; Fraix, Valerie; Meoni, Sara; Durif, Franck; Houeto, Jean Luc; Azulay, Jean Philippe; Moro, Elena; Thobois, Stephane; Krack, Paul; Castrioto, Anna;
PUBLISHED: 2022, SOURCE: JOURNAL OF PARKINSONS DISEASE, VOLUME: 12, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration  Full Text
AUTHORS: Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; Jose Loureiro ; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz ; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; Jose Vale; Paula Coutinho ; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr; ...More
PUBLISHED: 2008, SOURCE: BRAIN, VOLUME: 131, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 180