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Your search keyword '"Boilleé, Séverine"' showing total 14 results
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14 results on '"Boilleé, Séverine"'

3. Ultrasound-Induced Blood–Spinal Cord Barrier Opening in Rabbits

Author

Montero, Anne-Sophie, Bielle, Franck, Goldwirt, Lauriane, Lalot, Adrien, Bouchoux, Guillaume, Canney, Michael, Belin, Florine, Beccaria, Kevin, Pradat, Pierre-François, Salachas, François, Boillée, Severine, Lobsiger, Christian, Lafon, Cyril, Chapelon, Jean-Yves, and Carpentier, Alexandre

Published
2019
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5. Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis

Author

Teyssou, Elisa, Muratet, François, Amador, Maria-Del-Mar, Ferrien, Mélanie, Lautrette, Géraldine, Machat, Selma, Boillée, Séverine, Larmonier, Thierry, Saker, Safaa, Leguern, Eric, Cazeneuve, Cécile, Marie, Yannick, Guegan, Justine, Gyorgy, Beata, Cintas, Pascal, Meininger, Vincent, Le Forestier, Nadine, Salachas, François, Couratier, Philippe, Camu, William, Seilhean, Danielle, and Millecamps, Stéphanie

Published
2021
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10. Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

Author

Teyssou, Elisa, Chartier, Laura, Amador, Maria-Del-Mar, Lam, Roselina, Lautrette, Géraldine, Nicol, Marie, Machat, Selma, Da Barroca, Sandra, Moigneu, Carine, Mairey, Mathilde, Larmonier, Thierry, Saker, Safaa, Dussert, Christelle, Forlani, Sylvie, Fontaine, Bertrand, Seilhean, Danielle, Bohl, Delphine, Boillée, Séverine, Meininger, Vincent, Couratier, Philippe, Salachas, François, Stevanin, Giovanni, and Millecamps, Stéphanie

Published
2017
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11. Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

Author

Millecamps, Stéphanie, Corcia, Philippe, Cazeneuve, Cécile, Boillée, Séverine, Seilhean, Danielle, Danel-Brunaud, Véronique, Vandenberghe, Nadia, Pradat, Pierre-François, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaëlle, Camu, William, Brice, Alexis, Meininger, Vincent, LeGuern, Eric, and Salachas, François

Published
2012
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12. Screening of OPTN in French familial amyotrophic lateral sclerosis

Author

Millecamps, Stéphanie, Boillée, Séverine, Chabrol, Elodie, Camu, William, Cazeneuve, Cécile, Salachas, François, Pradat, Pierre-François, Danel-Brunaud, Véronique, Vandenberghe, Nadia, Corcia, Philippe, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaëlle, Seilhean, Danielle, Brice, Alexis, Feingold, Josué, Meininger, Vincent, and LeGuern, Eric

Published
2011
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14. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.

Author

Millecamps, Stéphanie, Boilleé, Séverine, Le Ber, Isabelle, Seilhean, Danielle, Teyssou, Elisa, Giraudeau, Marine, Moigneu, Carine, Vandenberghe, Nadia, Danel-Brunaud, Véronique, Corcia, Philippe, Pradat, Pierre-François, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaelle, Camu, William, Brice, Alexis, Cazeneuve, Cécile, LeGuern, Eric, Meininger, Vincent, and Salachas, François

Subjects
PHENOTYPES, AMYOTROPHIC lateral sclerosis, GENETICS, NEUROMUSCULAR diseases, GENETIC polymorphisms, HUNTINGTON disease
Abstract

Background Expanded GGGGCC hexanucleotide repeats in the promoter of the C9ORF72 gene have recently been identified in frontotemporal dementia (FTD), Amyotrophic Lateral Sclerosis (ALS) and ALS-FTD and appear as the most common genetic cause of familial (FALS) and sporadic (SALS) forms of ALS. Methods We searched for the C9ORF72 repeat expansion in 950 French ALS patients (225 FALS and 725 SALS) and 580 control subjects and performed genotype-phenotype correlations. Results The repeat expansion was present in 46% of FALS, 8% of SALS and 0% of controls. Phenotype comparisons were made between FALS patients with expanded C9ORF72 repeats and patients carrying another ALS-related gene (SOD1, TARDBP, FUS) or a yet unidentified genetic defect. SALS patients with and without C9ORF72 repeat expansions were also compared. The C9ORF72 group presented more frequent bulbar onset both in FALS (p<0.0001 vs SOD1, p=0.002 vs TARDBP, p=0.011 vs FUS, p=0.0153 vs other FALS) and SALS (p=0.047). FALS patients with C9ORF72 expansions had more frequent association with FTD than the other FALS patients (p<0.0001 vs SOD1, p=0.04 vs TARDBP, p=0.004 vs FUS, p=0.03 vs other FALS). C9ORF72-linked FALS patients presented an older age of onset than SOD1 (p=0.0139) or FUS mutation (p<0.0001) carriers. Disease duration was shorter for C9ORF72 expansion carriers than for SOD1 (p<0.0001) and TARDBP (p=0.0242) carriers, other FALS (p<0.0001) and C9ORF72-negative SALS (p=0.0006). Conclusions Our results confirm the major role of expanded repeats in C9ORF72 as causative for ALS and provide evidence for specific phenotypic aspects compared to patients with other ALS-related genes. [ABSTRACT FROM AUTHOR]

Published
2012
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