Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Pascale Ribai"'
Autor:
Fiona Haslam McKenzie, Wouter Steyaert, Marije Koopmans, Banu Güzel Nur, Paul Coucke, Bert Callewaert, Siren Berland, Anita Rauch, Ilse Meerschaut, Florence Petit, Emma Wakeling, Edward Blair, Kathelijn Keymolen, Bernadette C. Hanna, Pascale Ribai, Shana De Coninck, Isabelle Migeotte, Frank Plasschaert, Vinod Varghese, Carina Wallgren-Pettersson, Andrew Green, Melissa Lees, Damien Lederer, Anne De Paepe, Angela Barnicoat, Irene Stolte-Dijkstra, Juliette Piard, Irene Valenzuela, Anna de Burca, Jeroen Breckpot, Franco Stanzial, Sally Ann Lynch, Iratxe Salcedo Pacheco, Ercan Mihci, Alison Male, Pradeep Vasudevan, Daniël De Wolf, Francesco Benedicenti, Cheryl Longman, Allan Bayat, Sixto García-Miñaur, Sofie Symoens, Anne Destree
Publikováno v:
Genetics in medicine
Genetics in Medicine, 22(1), 124-131. Nature Publishing Group
Genetics in Medicine, 22(1), 124-131. Nature Publishing Group
Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e41b20dc4ed1005a167b8080435cdbd
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/298538
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/298538
Autor:
Didier Hannequin, Ellis Chan, Leorah Freeman, Perrine Charles, Nadia Vandenberghe, David Devos, Cyril Goizet, Maya Tchikviladzé, Pascale Ribai, Cecilia Marelli, Alexandra Durr, Mathieu Anheim, Isabelle Le Ber, Alexis Brice, Alice Le Bayon, Pierre Labauge, Sophie Tezenas du Montcel, Karine Nguyen, Lucie Guyant-Maréchal, Carlo Maria Vincitorio
Publikováno v:
Movement Disorders. 26:534-538
Background: Responsive ataxia rating scales are essential for determining outcome measures in clinical trials. Methods: We evaluated the responsiveness over time of the composite cerebellar functional severity score, a quantitative score measuring ce
Autor:
Sandra Szymanski, Syliva Boesch, Caterina Mariotti, Alexandra Durr, T. Schmitz-Hübsch, Maryla Rakowicz, C. Globas, Dagmar Timmann, Ludger Schöls, Peter Bauer, Thomas Klockgether, Bart P.C. van de Warrenburg, Sophie Tezenas du Montcel, Pascale Ribai, Stefano DiDonato, Chantal Depondt, Béla Melegh, Rafał Rola, Alessandro Filla, Laslo Baliko
Publikováno v:
Movement Disorders, 23, 15, pp. 2232-8
Movement Disorders, 23, 2232-8
Movement Disorders, 23, 2232-8
Contains fulltext : 70473.pdf (Publisher’s version ) (Closed access) Onset of genetically determined neurodegenerative diseases is difficult to specify because of their insidious and slowly progressive nature. This is especially true for spinocereb
Autor:
Bénédicte Pontier, Céline Charon, Naima Bouslam, Alexis Brice, Pascale Ribai, Christel Dussert, Alexandra Durr, Bertrand Fontaine, Giovanni Stevanin, Isabelle Nelson
Publikováno v:
Journal of Neurology. 253:714-719
Hereditary spastic paraplegias are genetically and clinically heterogeneous. Twenty-six loci have been identified to date. SPG27 was recently mapped to chromosome 10 in a single family with autosomal recessive hereditary spastic paraplegia (AR-HSP) a
Autor:
Alexis Brice, Isabelle Nelson, Sylvie Forlani, C. Depienne, Cyril Goizet, Pascale Ribai, Alexandra Durr, Merle Ruberg, Michito Namekawa, F. Fellmann, G. Stevanin
Publikováno v:
Neurology. 66:112-114
Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel (T162P, C375R). SPG3A was twice as frequent as SPG4 in patients with onset before age 10
Autor:
Luisa Pugliese, Marcello Nobili, Corrado Assalto, Russell L. Margolis, Pascale Ribai, Nicola Migone, Claudia Cagnoli, Sylvie Forlani, Patrizia Pappi, Giovanni Stevanin, Alessandro Brussino, Isabelle Leber, Alexis Brice, Susan E. Holmes, Sergio Padovan, Marco Barberis, Alexandra Durr, Alfredo Brusco, Cécile Zaros, Cecilia Mancini
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2010, 31 (10), pp.1117. ⟨10.1002/humu.21342⟩
Human Mutation, 2010, 31 (10), pp.1117. ⟨10.1002/humu.21342⟩
Human Mutation, Wiley, 2010, 31 (10), pp.1117. ⟨10.1002/humu.21342⟩
Human Mutation, 2010, 31 (10), pp.1117. ⟨10.1002/humu.21342⟩
Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease. We screened 366 primarily Caucasian ADCA families, negative for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4c40453e309777a421c08ba4d90975f
https://hal.archives-ouvertes.fr/hal-00574001/file/PEER_stage2_10.1002%2Fhumu.21342.pdf
https://hal.archives-ouvertes.fr/hal-00574001/file/PEER_stage2_10.1002%2Fhumu.21342.pdf
Autor:
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
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 26(3)
Responsive ataxia rating scales are essential for determining outcome measures in clinical trials.We evaluated the responsiveness over time of the composite cerebellar functional severity score, a quantitative score measuring cerebellar ataxia in 133
Autor:
Elszbieta Zdzienicka, Sophie Tezenas du Montcel, Ludger Schöls, Paola Giunti, Dagmar Timmann, Berry Kremer, Caterina Mariotti, Mathieu Coudert, Alessandro Filla, Jörg B. Schulz, Jun Suk Kang, Jon Infante, Bart P.C. van de Warrenburg, Pascale Ribai, Rafał Rola, Sandra Szymanski, Roberto Fancellu, C. Globas, T. Schmitz-Hübsch, Perrine Charles, Susanne Ratzka, Thomas Klopstock, Alexandra Durr, S Boesch, Chantal Depondt, Béla Melegh, Laszlo Baliko, Thomas Klockgether, Maryla Rakowicz
Publikováno v:
Movement Disorders, 25, 5, pp. 587-95
Movement Disorders, 25, 587-95
Movement Disorders, 25(5), 587-595. Wiley
Movement Disorders, 25, 587-95
Movement Disorders, 25(5), 587-595. Wiley
Contains fulltext : 89297.pdf (Publisher’s version ) (Closed access) Patient-based measures of subjective health status are increasingly used as outcome measures in interventional trials. We aimed to determine the variability and predictors of subj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ca048a020129fbae9766876ac0cd6b
https://doi.org/10.1002/mds.22740
https://doi.org/10.1002/mds.22740
Autor:
Karine Nguyen, Pascale Ribai, Carlo-Maria Vincitorio, Alice Le Bayon, Nadia Vandenberghe, Mario-Ubaldo Manto, François Tison, Isabelle Le Ber, C Jauffret, David Devos, Sophie Tezenas du Montcel, Merle Ruberg, Cyril Goizet, Alexis Brice, Sylvie Forlani, Alexandra Durr, Lucie Guyant-Maréchal, Didier Hannequin, Pierre Labauge, Perrine Charles
Publikováno v:
Brain : a journal of neurology. 131(Pt 5)
Reliable and easy to perform functional scales are a prerequisite for future therapeutic trials in cerebellar ataxias. In order to assess the specificity of quantitative functional tests of cerebellar dysfunction, we investigated 123 controls, 141 pa
Autor:
Estelle Fedirko, Alexis Brice, Alexandra Durr, Pascale Ribai, Caterine Viveweger, Valérie Hahn-Barma, Christel Depienne, Anne-Catherine Jothy
Publikováno v:
European journal of human genetics : EJHG. 16(1)
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 suc