A clinical scoring system for congenital contractural arachnodactyly
Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M, Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J, Hanna, Bernadette C, Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M, McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank S, Rauch, Anita, Ribaï, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C, Wakeling, Emma, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, Callewaert, Bert
Published in Genetics in medicine (01.01.2020)
Published in Genetics in medicine (01.01.2020)
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Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
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
Published in Movement disorders (15.11.2008)
Published in Movement disorders (15.11.2008)
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Depression comorbidity in spinocerebellar ataxia
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., Szymanski, Sandra, Infante, Jon, Timmann, Dagmar, Boesch, Sylvia, Depondt, Chantal, Kang, Jun-Suk, Schulz, Jörg B., Klopstock, Thomas, Lossnitzer, Nicole, Löwe, Bernd, Frick, Caroline, Rottländer, Daniela, Schlaepfer, Thomas E., Klockgether, Thomas
Published in Movement disorders (01.04.2011)
Published in Movement disorders (01.04.2011)
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Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment
du Montcel, Sophie Tezenas, Charles, Perrine, Ribai, Pascale, Goizet, Cyril, Le Bayon, Alice, Labauge, Pierre, Guyant-Maréchal, Lucie, Forlani, Sylvie, Jauffret, Celine, Vandenberghe, Nadia, N'Guyen, Karine, Le Ber, Isabelle, Devos, David, Vincitorio, Carlo-Maria, Manto, Mario-Ubaldo, Tison, François, Hannequin, Didier, Ruberg, Merle, Brice, Alexis, Durr, Alexandra
Published in Brain (London, England : 1878) (01.05.2008)
Published in Brain (London, England : 1878) (01.05.2008)
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Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings
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, van de Warrenburg, Bart P. C., Dürr, Alexandra, Timmann, Dagmar, Boesch, Sylvia, Fancellu, Roberto, Rola, Rafal, Depondt, Chantal, Schöls, Ludger, Zdzienicka, Elzbieta, Kang, Jun-Suk, Ratzka, Susanne, Kremer, Berry, Stephenson, Dennis A., Melegh, Béla, Pandolfo, Massimo, du Montcel, Sophie Tezenas, Borkert, Johannes, Schulz, Jörg B., Klockgether, Thomas
Published in Cerebellum (London, England) (01.03.2012)
Published in Cerebellum (London, England) (01.03.2012)
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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
Depienne, Christel, Fedirko, Estelle, Forlani, Sylvie, Cazeneuve, Cécile, Ribaï, Pascale, Feki, Imed, Tallaksen, Chantal, Nguyen, Karine, Stankoff, Bruno, Ruberg, Merle, Stevanin, Giovanni, Durr, Alexandra, Brice, Alexis
Published in Journal of medical genetics (01.04.2007)
Published in Journal of medical genetics (01.04.2007)
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Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias
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
Published in Movement disorders (15.02.2011)
Published in Movement disorders (15.02.2011)
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Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease
METZGER, Silke, BAUER, Peter, SEPPI, Klaus, MELEGH, Bela, HAVASI, Viktoria, BALIKO, Laszlo, WIECZOREK, Stefan, ZAREMBA, Jacek, HOFFMAN-ZACHARSKA, Dorota, SULEK, Anna, NAZLI BASAK, A, SOYDAN, Esra, TOMIUK, Jürgen, ZIDOVSKA, Jana, KEBRDLOVA, Vera, PANDOLFO, Massimo, RIBÏ, Pascale, KADASI, Ludovit, KVASNICOVA, Marta, WEBER, Bernhard H. F, KREUZ, Friedmar, DOSE, Matthias, STUHRMANN, Manfred, LACCONE, Franco, RIESS, Olaf, DIDONATO, Stefano, GELLERA, Cinzia, MARIOTTI, Caterina, LANGE, Herwig W, WEIRICH-SCHWAIGER, Helga, WENNING, Gregor K
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
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A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
HANEIN, Sylvain, DÜRR, Alexandra, BRICE, Alexis, STEVANIN, Giovanni, RIBAI, Pascale, FORLANI, Sylvie, LEUTENEGGER, Anne-Louise, NELSON, Isabelle, BABRON, Marie-Claude, ELLEUCH, Nizar, DEPIENNE, Christel, CHARON, Céline
Published in Human genetics (01.11.2007)
Published in Human genetics (01.11.2007)
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Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients
Ribaï, Pascale, Nguyen, Karine, Hahn-Barma, Valérie, Gourfinkel-An, Isabelle, Vidailhet, Marie, Legout, Antoine, Dodé, Catherine, Brice, Alexis, Dürr, Alexandra
Published in Archives of neurology (Chicago) (01.06.2007)
Published in Archives of neurology (Chicago) (01.06.2007)
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Neurological, Cardiological, and Oculomotor Progression in 104 Patients With Friedreich Ataxia During Long-term Follow-up
Ribaï, Pascale, Pousset, Françoise, Tanguy, Marie-Laure, Rivaud-Pechoux, Sophie, Le Ber, Isabelle, Gasparini, Franchesca, Charles, Perrine, Béraud, Anne-Sophie, Schmitt, Michele, Koenig, Michel, Mallet, Alain, Brice, Alexis, Dürr, Alexandra
Published in Archives of neurology (Chicago) (01.04.2007)
Published in Archives of neurology (Chicago) (01.04.2007)
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Brachial plexus neuritis: is prognosis worse in children?
Verheulpen, Denis, Ribaı̈, Pascale, Gérard, Jean-Marie, Caroyer, Jean-Marc, Van Bogaert, Patrick
Published in European journal of paediatric neurology (01.01.2004)
Published in European journal of paediatric neurology (01.01.2004)
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Recommendations for the predictive genetic test in Huntington's disease
MacLeod, R, Tibben, A, Frontali, M, Evers-Kiebooms, G, Jones, A, Martinez-Descales, A, Roos, RA
Published in Clinical genetics (01.03.2013)
Published in Clinical genetics (01.03.2013)
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Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias
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
Published in Human mutation (01.10.2010)
Published in Human mutation (01.10.2010)
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Missense mutations in the AFG3L2 proteolytic domain account for similar to 1.5% of European autosomal dominant cerebellar ataxias
Cagnoli, Claudia, Stevanin, Giovanni, Brussino, Alessandro, Barberis, Marco, Mancini, Cecilia, Margolis, Russell L, Holmes, Susan E, Nobili, Marcello, lani, Sylvie, Padovan, Sergio, Pappi, Patrizia, Zaros, Cecile, Leber, Isabelle, Ribai, Pascale, Pugliese, Luisa, Assalto, Corrado, Brice, Alexis, Migone, Nicola, Durr, Alexandra, Brusco, Alfredo
Published in Human mutation (01.10.2010)
Published in Human mutation (01.10.2010)
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Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study
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, Zdzienicka, Elszbieta, Kang, Jun-Suk, Ratzka, Susanne, Kremer, Berry, Schulz, Jörg B., Klopstock, Thomas, Melegh, Bela, du Montcel, Sophie Tezenas, Klockgether, Thomas
Published in Movement disorders (15.04.2010)
Published in Movement disorders (15.04.2010)
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Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease
Aziz, N A, Jurgens, C K, Landwehrmeyer, G B, van Roon-Mom, W M C, van Ommen, G J B, Stijnen, T, Roos, R A C
Published in Neurology (20.10.2009)
Published in Neurology (20.10.2009)
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Mental deficiency in three families with SPG4 spastic paraplegia
RIBAÏ, Pascale, DEPIENNE, Christel, FEDIRKO, Estelle, JOTHY, Anne-Catherine, VIVEWEGER, Caterine, HAHN-BARMA, Valérie, BRICE, Alexis, DURR, Alexandra
Published in European journal of human genetics : EJHG (01.01.2008)
Published in European journal of human genetics : EJHG (01.01.2008)
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Journal Article
Self-Rated Health Status in Spinocerebellar Ataxia—Results from a European Multiceriter Study
SCHMITZ-HÜBSCH, Tanja, COUDERT, Mathieu, RIBAI, Pascale, SZYMANSKI, Sandra, INFANTE, Jon, VAN DE WARRENBURG, Bart P. C, DÜRR, Alexandra, TIMMANN, Dagmar, BOESCH, Sylvia, ROLA, Rafal, DEPONDT, Chantal, SCHÖLS, Ludger, GIUNTI, Paola, ZDZIENICKA, Elszbieta, KANG, Jun-Suk, RATZKA, Susanne, KREMER, Berry, SCHULZ, Jörg B, KLOPSTOCK, Thomas, MELEGH, Bela, TEZENAS DU MONTCEL, Sophie, KLOCKGETHER, Thomas, GLOBAS, Christoph, BALIKO, Laszlo, FANCELLU, Roberto, MARIOTTI, Caterina, FILLA, Alessandro, RAKOWICZ, Maryla, CHARLES, Perrine
Published in Movement disorders (2010)
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Published in Movement disorders (2010)
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