Search

Your search keyword '"Ribaï, Pascale"' showing total 10 results
Start Over Author "Ribaï, Pascale" Publication Type Academic Journals
10 results on '"Ribaï, Pascale"'

1. A clinical scoring system for congenital contractural arachnodactyly

Author

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, and Callewaert, Bert

Published
2020
Full Text
View/download PDF

2. Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease

Author

Metzger, Silke, Bauer, Peter, Tomiuk, Jürgen, Laccone, Franco, DiDonato, Stefano, Gellera, Cinzia, Mariotti, Caterina, Lange, Herwig W., Weirich-Schwaiger, Helga, Wenning, Gregor K., Seppi, Klaus, Melegh, Bela, Havasi, Viktoria, Balikó, Laszlo, Wieczorek, Stefan, Zaremba, Jacek, Hoffman-Zacharska, Dorota, Sulek, Anna, Basak, A. Nazli, Soydan, Esra, Zidovska, Jana, Kebrdlova, Vera, Pandolfo, Massimo, Ribaï, Pascale, Kadasi, Ludovit, Kvasnicova, Marta, Weber, Bernhard H. F., Kreuz, Friedmar, Dose, Matthias, Stuhrmann, Manfred, and Riess, Olaf

Published
2006
Full Text
View/download PDF

3. The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease

Author

Metzger, Silke, Bauer, Peter, Tomiuk, Juergen, Laccone, Franco, Didonato, Stefano, Gellera, Cinzia, Soliveri, Paola, Lange, Herwig W., Weirich-Schwaiger, Helga, Wenning, Gregor K., Melegh, Bela, Havasi, Victoria, Balikó, Lazlo, Wieczorek, Stefan, Arning, Larissa, Zaremba, Jacek, Sulek, Anna, Hoffman-Zacharska, Dorota, Basak, A. Nazli, Ersoy, Nagehan, Zidovska, Jana, Kebrdlova, Vera, Pandolfo, Massimo, Ribaï, Pascale, Kadasi, Ludovit, Kvasnicova, Marta, Weber, Bernhard H. F., Kreuz, Friedmar, Dose, Matthias, Stuhrmann, Manfred, and Riess, Olaf

Published
2006
Full Text
View/download PDF

8. Mental deficiency in three families with SPG4 spastic paraplegia.

Author

Ribaï, Pascale, Depienne, Christel, Fedirko, Estelle, Jothy, Anne-Catherine, Viveweger, Caterine, Hahn-Barma, Valérie, Brice, Alexis, and Durr, Alexandra

Subjects
*GENETIC mutation, *SPASTIC paralysis, *PARAPLEGIA, *EXTREMITIES (Anatomy), *DEMENTIA, *INTELLECTUAL disabilities
Abstract

Mutations and deletions in the SPG4 gene are responsible for up to 40% of autosomal dominant hereditary spastic paraplegia (HSP). Patients have pyramidal signs in the lower limbs and some present additional features including cognitive impairment such as executive dysfunction or subcortical dementia. We report 13 patients from three SPG4 families, who had spastic paraplegia associated with mental retardation (n=1), extensive social dependence (n=10), or isolated psychomotor delay (n=2). In family FSP-698, 10 affected individuals had both HSP and mental deficiency leading to social dependence in 9 and institutionalization in 5. The mean age at onset of spastic paraplegia was 11±20 years, ranging from 1 to 51 years. This phenotype segregated either with a novel p.Glu442Lys mutation or the two previously described p.Arg459Thr and p.Arg499Cys substitutions in the SPG4 gene. Since two of these mutations were previously reported in families with a pure form of the disease, another genetic factor linked to SPG4 could be responsible for this complex phenotype.European Journal of Human Genetics (2008) 16, 97–104; doi:10.1038/sj.ejhg.5201922; published online 24 October 2007 [ABSTRACT FROM AUTHOR]

Published
2008
Full Text
View/download PDF

9. Usefulness of prolonged video–EEG monitoring and provocative procedure with saline injection for the diagnosis of non epileptic seizures of psychogenic origin.

Author

Ribaï, Pascale, Tugendhaft, Patrick, and Legros, Benjamin

Subjects
*ELECTROENCEPHALOGRAPHY, *EPILEPSY, *SPASMS, *TENSION headache, *PROVOCATION tests (Medicine), *PEOPLE with epilepsy
Abstract

Objectives To assess the usefulness of long term video-EEG monitoring (VEEGM) and intravenous injection of saline solution (IVISS) for the diagnosis of non epileptic seizures of psychogenic origin (PNES). Background PNES are common among patients referred to an epilepsy center. Long term VEEGM remains the gold standard method for assessing the correct diagnosis. However, spontaneous PNES do not always occur during VEEGM, and a provocative test is often required. Although IVISS is the most commonly performed method, its usefulness is still debated. Methods We performed a long term VEEGM and an IVISS test the last day of the monitoring to each patient admitted to the Epilepsy Monitoring Unit of Erasme Hospital, Brussels, between October 2001 and February 2005 for suspicion of PNES. Patient charts were retrospectively reviewed. Results Of a total of 138 patients admitted to our center, 28 (20.3%) were referred for suspicion of PNES. There were 7 men and 21 women with a mean age of 35 years. Twenty-one patients (75%) had PNES during the VEEGM. Ten patients (36 %) had spontaneous PNES and positive IVISS. Nine patients (32 %) had no spontaneous PNES but a positive IVISS. Two patients (7 %) had spontaneous PNES and a negative IVISS. Among patients with PNES, 8 had also epileptic findings. Conclusion IVISS is a useful diagnostic tool since it was the only way to confirm the diagnosis of PNES in 32% of our patients. We suggest that investigation for the diagnosis of PNES should always include both a prolonged VEEGM and an IVISS test. [ABSTRACT FROM AUTHOR]

Published
2006
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results