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Pascale Ribai

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Sophie Tezenas du Montcel; Nadia Vandenberghe; Carlo Vincitorio; Mathieu Anheim; Alexis Brice; Cécile Cazeneuve; Perrine Charles; David Devos; Cyril Goizet; Lucie Guyant-Maréchal; Alice Le Bayon; Isabelle Le Ber; Cecilia Marelli; Karine N'Guyen; Pascale Ribai; C M E Tallaksen; Maya Tchikviladzé; Alexandra Durr
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
Ellis Chan; Perrine Charles; Pascale Ribai; Cyril Goizet; Cecilia Marelli; Carlo-Maria Vincitorio; Alice Le Bayon; Lucie Guyant-Maréchal; Nadia Vandenberghe; Mathieu Anheim; David Devos; Leorah Freeman; Isabelle Le Ber; Karine N'Guyen; Maya Tchikviladzé; Pierre Labauge; Didier Hannequin; Alexis Brice; Alexandra Durr; Sophie Tezenas du Montcel
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias.
Claudia Cagnoli; Giovanni Stevanin; Alessandro Brussino; Marco Barberis; Cecilia Mancini; Russell L Margolis; Susan E Holmes; Marcello Nobili; Sylvie Forlani; Sergio Padovan; Patrizia Pappi; Cécile Zaros; Isabelle Leber; Pascale Ribai; Luisa Pugliese; Corrado Assalto; Alexis Brice; Nicola Migone; Alexandra Dürr; Alfredo Brusco
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

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2012: Sophie Tezenas du Montcel; Nadia Vandenberghe; Carlo Vincitorio; Mathieu Anheim; Alexis Brice; Cécile Cazeneuve; Perrine Charles; David Devos; Cyril Goizet; Lucie Guyant-Maréchal; Alice Le Bayon; Isabelle Le Ber; Cecilia Marelli; Karine N'Guyen; Pascale Ribai; C M E Tallaksen; Maya Tchikviladzé; Alexandra Durr
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
Archives of neurology 2012;69(4):500-8.
2011: Ellis Chan; Perrine Charles; Pascale Ribai; Cyril Goizet; Cecilia Marelli; Carlo-Maria Vincitorio; Alice Le Bayon; Lucie Guyant-Maréchal; Nadia Vandenberghe; Mathieu Anheim; David Devos; Leorah Freeman; Isabelle Le Ber; Karine N'Guyen; Maya Tchikviladzé; Pierre Labauge; Didier Hannequin; Alexis Brice; Alexandra Durr; Sophie Tezenas du Montcel
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias.
Movement disorders : official journal of the Movement Disorder Society 2011;26(3):534-8.
2010: Claudia Cagnoli; Giovanni Stevanin; Alessandro Brussino; Marco Barberis; Cecilia Mancini; Russell L Margolis; Susan E Holmes; Marcello Nobili; Sylvie Forlani; Sergio Padovan; Patrizia Pappi; Cécile Zaros; Isabelle Leber; Pascale Ribai; Luisa Pugliese; Corrado Assalto; Alexis Brice; Nicola Migone; Alexandra Dürr; Alfredo Brusco
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Human mutation 2010;31(10):1117-24.
2010: Tanja Schmitz-Hübsch; Mathieu Coudert; Paola Giunti; Christoph Globas; Laszlo Baliko; Roberto Fancellu; Caterina Mariotti; Alessandro Filla; Maria Rakowicz; Perrine Charles; Pascale Ribai; Sandra Szymanski; Jon Infante; Bart P C van de Warrenburg; Alexandra Dürr; Dagmar Timmann; Sylvia Boesch; Rafal Rola; Chantal Depondt; Ludger Schöls; Elzbieta Zdzienicka; Jun-Suk Kang; Susanne Ratzka; Berry Kremer; Jörg B Schulz; Thomas Klopstock; Béla Melegh; Sophie Tezenas du Montcel; Thomas Klockgether
Self-rated health status in spinocerebellar ataxia--results from a European multicenter study.
Movement disorders : official journal of the Movement Disorder Society 2010;25(5):587-95.
2008: Christoph Globas; Sophie Tezenas du Montcel; Laslo Baliko; Sylvia Boesch; Chantal Depondt; Stefano DiDonato; Alexandra Durr; Alessandro Filla; Thomas Klockgether; Caterina Mariotti; Béla Melegh; Maryla Rakowicz; Pascale Ribai; Rafal Rola; Tanja Schmitz-Hubsch; Sandra Szymanski; Dagmar Timmann; Bart P Van de Warrenburg; Peter Bauer; Ludger Schols
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
Movement disorders : official journal of the Movement Disorder Society 2008;23(15):2232-8.
2008: 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 N'guyen; Isabelle Le Ber; David Devos; Carlo-Maria Vincitorio; Mario-Ubaldo Manto; François Tison; Didier Hannequin; Merle Ruberg; Alexis Brice; Alexandra Durr
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
Brain : a journal of neurology 2008;131(Pt 5):1352-61.
2007: Sylvain Hanein; Alexandra Dürr; Pascale Ribai; Sylvie Forlani; Anne-Louise Leutenegger; Isabelle Nelson; Marie-Claude Babron; Nizar Elleuch; Christel Depienne; Céline Charon; Alexis Brice; Giovanni Stevanin
A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.
Human genetics 2007;122(3-4):261-73.
2006: Pascale Ribai; Giovanni Stevanin; Naima Bouslam; Bénédicte Pontier; Isabelle Nelson; Bertrand Fontaine; Christel Dussert; Céline Charon; Alexandra Durr; Alexis Brice
A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
Journal of neurology 2006;253(6):714-9.
2006: Michito Namekawa; Isabelle Nelson; Pascale Ribai; Alexandra Dürr; Elodie Denis; Giovanni Stevanin; Merle Ruberg; Alexis Brice
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.
Neurogenetics 2006;7(2):131-2.
2006: Michito Namekawa; Pascale Ribai; Isabelle Nelson; Sylvie Forlani; F Fellmann; Cyril Goizet; Christel Depienne; Giovanni Stevanin; Merle Ruberg; Alexandra Dürr; Alexis Brice
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
Neurology 2006;66(1):112-4.
2005: Marc J Abramowicz; Pascale Ribai; Monique Cordonnier
Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis.
American journal of medical genetics. Part A 2005;132A(1):76-9.
2003: Pascale Ribai; Corinne Liesnard; Georges Rodesch; Sanda Giurgea; Denis Verheulpen; Philippe David; Patrick Van Bogaert
Transient cerebral arteriopathy in infancy associated with enteroviral infection.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(2):73-5.