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Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings.
Published in:
Cerebellum, 2012, v. 11, n. 1, p. 155, doi. 10.1007/s12311-011-0292-z
By:
- Jacobi, Heike;
- Hauser, Till-Karsten;
- Giunti, Paola;
- Globas, Christoph;
- Bauer, Peter;
- Schmitz-Hübsch, Tanja;
- Baliko, László;
- Filla, Alessandro;
- Mariotti, Caterina;
- Rakowicz, Maria;
- Charles, Perine;
- Ribai, Pascale;
- Szymanski, Sandra;
- Infante, Jon;
- Warrenburg, Bart;
- Dürr, Alexandra;
- Timmann, Dagmar;
- Boesch, Sylvia;
- Fancellu, Roberto;
- Rola, Rafal
Publication type:
Article
A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
Published in:
Journal of Neurology, 2006, v. 253, n. 6, p. 714, doi. 10.1007/s00415-006-0094-2
By:
- Ribai, Pascale;
- Stevanin, Giovanni;
- Bouslam, Naima;
- Pontier, Bénédicte.;
- Nelson, Isabelle;
- Fontaine, Bertrand;
- Dussert, Christel;
- Charon, Céline;
- Durr, Alexandra;
- Brice, Alexis
Publication type:
Article
Usefulness of prolonged video–EEG monitoring and provocative procedure with saline injection for the diagnosis of non epileptic seizures of psychogenic origin.
Published in:
Journal of Neurology, 2006, v. 253, n. 3, p. 328, doi. 10.1007/s00415-005-0991-9
By:
- Ribaï, Pascale;
- Tugendhaft, Patrick;
- Legros, Benjamin
Publication type:
Article
A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.
Published in:
Human Genetics, 2007, v. 122, n. 3/4, p. 261, doi. 10.1007/s00439-007-0396-1
By:
- Hanein, Sylvain;
- Dürr, Alexandra;
- Ribai, Pascale;
- Forlani, Sylvie;
- Leutenegger, Anne-Louise;
- Nelson, Isabelle;
- Babron, Marie-Claude;
- Elleuch, Nizar;
- Depienne, Christel;
- Charon, Céline;
- Brice, Alexis;
- Stevanin, Giovanni
Publication type:
Article
Mental deficiency in three families with SPG4 spastic paraplegia.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 1, p. 97, doi. 10.1038/sj.ejhg.5201922
By:
- Ribaï, Pascale;
- Depienne, Christel;
- Fedirko, Estelle;
- Jothy, Anne-Catherine;
- Viveweger, Caterine;
- Hahn-Barma, Valérie;
- Brice, Alexis;
- Durr, Alexandra
Publication type:
Article
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1352, doi. 10.1093/brain/awn059
By:
- Sophie Tezenas du Montcel;
- Perrine Charles;
- Pascale Ribai;
- Cyril Goizet;
- Alice Le Bayon;
- Pierre Labauge;
- Lucie Guyant-Maréchal;
- Sylvie Forlani;
- Celine Jauffret;
- Nadia Vandenberghe;
- Karine NGuyen;
- Isabelle Le Ber;
- David Devos;
- Carlo-Maria Vincitorio;
- Mario-Ubaldo Manto;
- François Tison;
- Didier Hannequin;
- Merle Ruberg;
- Alexis Brice;
- Alexandra Durr
Publication type:
Article
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Published in:
Human Mutation, 2010, v. 31, n. 10, p. 1117, doi. 10.1002/humu.21342
By:
- Cagnoli, Claudia;
- Stevanin, Giovanni;
- Brussino, Alessandro;
- Barberis, Marco;
- Mancini, Cecilia;
- Margolis, Russell L.;
- Holmes, Susan E.;
- Nobili, Marcello;
- Forlani, Sylvie;
- Padovan, Sergio;
- Pappi, Patrizia;
- Zaros, Cécile;
- Leber, Isabelle;
- Ribai, Pascale;
- Pugliese, Luisa;
- Assalto, Corrado;
- Brice, Alexis;
- Migone, Nicola;
- Dürr, Alexandra;
- Brusco, Alfredo
Publication type:
Article
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.
Published in:
Neurogenetics, 2006, v. 7, n. 2, p. 131, doi. 10.1007/s10048-006-0028-2
By:
- Namekawa, Michito;
- Nelson, Isabelle;
- Ribai, Pascale;
- Dürr, Alexandra;
- Denis, Elodie;
- Stevanin, Giovanni;
- Ruberg, Merle;
- Brice, Alexis
Publication type:
Article
Depression comorbidity in spinocerebellar ataxia.
Published in:
Movement Disorders, 2011, v. 26, n. 5, p. 870, doi. 10.1002/mds.23698
By:
- Schmitz-Hübsch, Tanja;
- Coudert, Mathieu;
- Tezenas du Montcel, Sophie;
- Giunti, Paola;
- Labrum, Robyn;
- Dürr, Alexandra;
- Ribai, Pascale;
- Charles, Perrine;
- Linnemann, Christoph;
- Schöls, Ludger;
- Rakowicz, Maryla;
- Rola, Rafal;
- Zdzienicka, Elszbieta;
- Fancellu, Roberto;
- Mariotti, Caterina;
- Baliko, Lazlo;
- Melegh, Bela;
- Filla, Alessandro;
- Salvatore, Elena;
- van de Warrenburg, Bart P.C.
Publication type:
Article
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias.
Published in:
Movement Disorders, 2011, v. 26, n. 3, p. 534, doi. 10.1002/mds.23531
By:
- Chan, Ellis;
- Charles, Perrine;
- Ribai, Pascale;
- Goizet, Cyril;
- Marelli, Cecilia;
- Vincitorio, Carlo-Maria;
- Bayon, Alice Le;
- Guyant-Maréchal, Lucie;
- Vandenberghe, Nadia;
- Anheim, Mathieu;
- Devos, David;
- Freeman, Leorah;
- Ber, Isabelle Le;
- N'Guyen, Karine;
- Tchikviladzé, Maya;
- Labauge, Pierre;
- Hannequin, Didier;
- Brice, Alexis;
- Durr, Alexandra;
- du Montcel, Sophie Tezenas
Publication type:
Article
Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study.
Published in:
Movement Disorders, 2010, v. 25, n. 5, p. 587, doi. 10.1002/mds.22740
By:
- Schmitz-Hübsch, Tanja;
- Coudert, Mathieu;
- Giunti, Paola;
- Globas, Christoph;
- Baliko, Laszlo;
- Fancellu, Roberto;
- Mariotti, Caterina;
- Filla, Alessandro;
- Rakowicz, Maryla;
- Charles, Perrine;
- Ribai, Pascale;
- Szymanski, Sandra;
- Infante, Jon;
- van de Warrenburg, Bart P.C.;
- Dürr, Alexandra;
- Timmann, Dagmar;
- Boesch, Sylvia;
- Rola, Rafal;
- Depondt, Chantal;
- Schöls, Ludger
Publication type:
Article
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
Published in:
Movement Disorders, 2008, v. 23, n. 15, p. 2232, doi. 10.1002/mds.22288
By:
- Globas, Christoph;
- du Montcel, Sophie Tezenas;
- Baliko, Laslo;
- Boesch, Syliva;
- Depondt, Chantal;
- DiDonato, Stefano;
- Durr, Alexandra;
- Filla, Alessandro;
- Klockgether, Thomas;
- Mariotti, Caterina;
- Melegh, Bela;
- Rakowicz, Maryla;
- Ribai, Pascale;
- Rola, Rafal;
- Schmitz-Hubsch, Tanja;
- Szymanski, Sandra;
- Timmann, Dagmar;
- Van de Warrenburg, Bart P.;
- Bauer, Peter;
- Schols, Ludger
Publication type:
Article

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