Search Results - "RIBAÏ, P"

Usefulness of prolonged video-EEG monitoring and provocative procedure with saline injection for the diagnosis of non epileptic seizures of psychogenic origin by RIBAÏ, Pascale, TUGENDHAFT, Patrick, LEGROS, Benjamin

“…To assess the usefulness of long term video-EEG monitoring (VEEGM) and intravenous injection of saline solution (IVISS) for the diagnosis of non epileptic…”
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Spinocerebellar ataxia types 1, 2, 3, and 6 : Disease severity and nonataxia symptoms by SCHMITZ-HÜBSCH, T, COUDERT, M, RIBAI, P, SZYMANSKI, S, INFANTE, J, VAN DE WARRENBURG, B. P. C, DÜRR, A, TIMMANN, D, BOESCH, S, FANCELLU, R, ROLA, R, DEPONDT, C, BAUER, P, SCHÖLS, L, ZDIENICKA, E, KANG, J.-S, DÖHLINGER, S, KREMER, B, STEPHENSON, D. A, MELEGH, B, PANDOLFO, M, DI DONATO, S, TEZENAS DU MONTCEL, S, GIUNTI, P, KLOCKGETHER, T, GLOBAS, C, BALIKO, L, FILLA, A, MARIOTTI, C, RAKOWICZ, M, CHARLES, P

“…To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with…”
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SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years by Namekawa, M, Ribai, P, Nelson, I, Forlani, S, Fellmann, F, Goizet, C, Depienne, C, Stevanin, G, Ruberg, M, Dürr, A, Brice, A

“…Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were…”
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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia by 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

“…Background: Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD-HSP). However,…”
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Sialic acid residues in the labial salivary glands from Sjögren's syndrome patients by PENALOZA, A, DECAESTECKER, C, RIBAÏ, P, NAGY, N, SALMON, I, APPELBOOM, T, DANGUY, A, KISS, R, STEINFELD, S

“…To investigate the composition and expression of sialic acid in the labial salivary glands (LSG) in Sjögren's syndrome (SS). LSG of 19 patients with primary SS…”
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D-mannose and N-acetylglucosamine moieties and their respective binding sites in salivary glands of Sjögren's syndrome by Steinfeld, S, Penaloza, A, Ribaï, P, Decaestecker, C, Danguy, A, Gabius, H J, Salmon, I, Appelboom, T, Kiss, R

“…Sjögren's syndrome (SS) is an autoimmune exocrinopathy. The mannose binding lectin (MBL), a pluripotent molecule of the innate immune system, is involved in…”
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Chorea associated with anti-phospholipid antibodies: case report by Demonty, J, Gonce, M, Ribai, P, Verellen-Dumoulin, C, Hustinx, R

“…A seventeen year-old boy developed left sided chorea in a few days, subsequently involving the four limbs. Although he presented a marfanoid phenotype, genetic…”
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Acute Balint's syndrome is not always caused by a stroke by Ribai, P., Vokaer, M., De Tiège, X., Massat, I., Slama, H., Bier, J.C.

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A new phenotype linked to SPG27 and refinement of the critical region on chromosome by Ribai, Pascale, Stevanin, Giovanni, Bouslam, Naima, Pontier, Bénédicte, Nelson, Isabelle, Fontaine, Bertrand, Dussert, Christel, Charon, Céline, Durr, Alexandra, Brice, Alexis

“…Hereditary spastic paraplegias are genetically and clinically heterogeneous. Twenty-six loci have been identified to date. SPG27 was recently mapped to…”
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Second polar body inclusion results in diploid/triploid mixoploidy by Brems, H, Vogels, A, Ribai, P, De Raedt, T, Fryns, J P, Legius, E

“…We report three cases with a typical diploid/triploid mixoploidy. Cytogenetic analysis showed a normal diploid karyotype in peripheral blood lymphocytes and a…”
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A novel locus for autosomal dominant uncomplicated hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3 by 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

“…Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous. Both "uncomplicated" and "complicated" forms have been described, with…”
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A new phenotype linked to SPG27 and refinement of the critical region on chromosome 10 by RIBAI, Pascale, STEVANIN, Giovanni, BOUSLAM, Naima, PONTIER, Bénédicte, NELSON, Isabelle, FONTAINE, Bertrand, DUSSERT, Christel, CHARON, Céline, DURR, Alexandra, BRICE, Alexis

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The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease by METZGER, Silke, BAIUER, Peter, MELEGH, Bela, HAVASI, Victoria, BALIKO, Lazlo, WIECZOREK, Stefan, ARNING, Larissa, ZAREMBA, Jacek, SUIEK, Anna, HOFFMAN-ZACHARSKA, Dorota, BASAK, A. Nazli, ERSOY, Nagehan, TOMIUK, Juergen, ZIDOVSKA, Jana, KEBRDLOVA, Vera, PANDOLFO, Massimo, RIBAÏ, Pascale, KADASI, Ludovit, KVASNICOVA, Marta, WEBER, Bernhard H. F, KREUZ, Friedmar, DOSE, Matthias, STUHRMANN, Manfred, LACCONE, Franco, RIESS, Olaf, DIDONATO, Stefano, GELLERA, Cinzia, SOLIVERI, Paola, LANGE, Herwig W, WEIRICH-SCHWAIGER, Helga, WENNING, Gregor K

“…An expanded polyglutamine stretch in the huntingtin protein has been identified as the pathogenetic cause of Huntington's disease (HD). Although the length of…”
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Congenital stationary night blindness: Report of an autosomal recessive family and linkage analysis by Abramowicz, Marc J., Ribai, Pascale, Cordonnier, Monique

“…Congenital stationary night blindness (CSNB) is a group of rare, non‐progressive conditions of the retina characterized by abnormal rod function causing…”
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Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up by 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

“…Friedreich ataxia (FA) is the most frequent autosomal recessive cerebellar ataxia. Although the phenotype is well known, disease progression has not been…”
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A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene by Namekawa, Michito, Nelson, Isabelle, Ribai, Pascale, Dürr, Alexandra, Denis, Elodie, Stevanin, Giovanni, Ruberg, Merle, Brice, Alexis

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Transient cerebral arteriopathy in infancy associated with enteroviral infection by RibaI, Pascale, Liesnard, Corinne, Rodesch, Georges, Giurgea, Sanda, Verheulpen, Denis, David, Philippe, Van Bogaert, Patrick

“…We report the case of an 18-month-old boy who presented aphasia and right hemiplegia of acute onset. The neurological deficit completely resolved after a few…”
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Brachial plexus neuritis: is prognosis worse in children? by Verheulpen, Denis, Ribaı̈, Pascale, Gérard, Jean-Marie, Caroyer, Jean-Marc, Van Bogaert, Patrick

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CHOREA ASSOCIATED WITH ANTI-PHOSPHOLIPID ANTIBODIES: CASE REPORT by Demonty, J., Gonce, M., Ribai, P., Verellen-Dumoulin, C., Hustinx, R.

“…A seventeen year-old boy developed left sided chorea in a few days, subsequently involving the four limbs. Although he presented a marfanoid phenotype, genetic…”
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Acute Balint's syndrome is not always caused by a stroke by Ribai, P, Vokaer, M, De Tiège, X, Massat, I, Slama, H, Bier, J C

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