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2. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

Author

Méreaux, Jean-Loup, Davoine, Claire-Sophie, Pellerin, David, Coarelli, Giulia, Coutelier, Marie, Ewenczyk, Claire, Monin, Marie-Lorraine, Anheim, Mathieu, Le Ber, Isabelle, Thobois, Stéphane, Gobert, Florent, Guillot-Noël, Léna, Forlani, Sylvie, Jornea, Ludmila, Heinzmann, Anna, Sangare, Aude, Gaymard, Bertrand, Guyant-Maréchal, Lucie, Charles, Perrine, Marelli, Cecilia, Honnorat, Jérôme, Degos, Bertrand, Tison, François, Sangla, Sophie, Simonetta-Moreau, Marion, Salachas, François, Tchikviladzé, Maya, Castelnovo, Giovanni, Mochel, Fanny, Klebe, Stephan, Castrioto, Anna, Fenu, Silvia, Méneret, Aurélie, Bourdain, Frédéric, Wandzel, Marion, Roth, Virginie, Bonnet, Céline, Riant, Florence, Stevanin, Giovanni, Noël, Sandrine, Fauret-Amsellem, Anne-Laure, Bahlo, Melanie, Lockhart, Paul J., Brais, Bernard, Renaud, Mathilde, Brice, Alexis, and Durr, Alexandra

Published
2024
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4. Care of Late‐Stage Parkinsonism: Resource Utilization of the Disease in Five European Countries

Author

Kruse, Christopher, primary, Lipinski, Anna, additional, Verheyen, Malte, additional, Balzer‐Geldsetzer, Monika, additional, Wittenberg, Michael, additional, Lorenzl, Stefan, additional, Richinger, Carmen, additional, Schmotz, Christian, additional, Tönges, Lars, additional, Woitalla, Dirk, additional, Klebe, Stephan, additional, Bloem, Bastiaan R., additional, Hommel, Adrianus, additional, Meissner, Wassilios G., additional, Laurens, Brice, additional, Boraud, Thomas, additional, Foubert‐Samier, Alexandra, additional, Vergnet, Sylvain, additional, Tison, François, additional, Costa, Nadège, additional, Odin, Per, additional, Rosqvist, Kristina, additional, Norlin, Jenny M., additional, Hjalte, Frida, additional, Schrag, Anette, additional, and Dodel, Richard, additional

Published
2024
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6. Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment

Author

Calandra-Buonaura, Giovanna, Alfonsi, Enrico, Vignatelli, Luca, Benarroch, Eduardo E., Giannini, Giulia, Iranzo, Alex, Low, Phillip A., Martinelli, Paolo, Provini, Federica, Quinn, Niall, Tolosa, Eduardo, Wenning, Gregor K., Abbruzzese, Giovanni, Bower, Pamela, Antonini, Angelo, Bhatia, Kailash P., Bonavita, Jacopo, Pellecchia, Maria Teresa, Pizzorni, Nicole, Tison, François, Ghorayeb, Imad, Meissner, Wassilios G., Ozawa, Tetsutaro, Pacchetti, Claudio, Pozzi, Nicolò Gabriele, Vicini, Claudio, Schindler, Antonio, Cortelli, Pietro, and Kaufmann, Horacio

Published
2021
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7. Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

Author

Ravel, Jean-Marie, Benkirane, Mehdi, Calmels, Nadège, Marelli, Cecilia, Ory-Magne, Fabienne, Ewenczyk, Claire, Halleb, Yosra, Tison, François, Lecocq, Claire, Pische, Guillaume, Casenave, Philippe, Chaussenot, Annabelle, Frismand, Solène, Tyvaert, Louise, Larrieu, Lise, Pointaux, Morgane, Drouot, Nathalie, Bossenmeyer-Pourié, Carine, Oussalah, Abderrahim, Guéant, Jean-Louis, Leheup, Bruno, Bonnet, Céline, Anheim, Mathieu, Tranchant, Christine, Lambert, Laëtitia, Chelly, Jamel, Koenig, Michel, and Renaud, Mathilde

Published
2021
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9. Early cognitive decline after bilateral subthalamic deep brain stimulation in Parkinson's disease patients with GBA mutations

Author

Benchetrit, Eve, Delaby, Laure, Berthet, Deborah, Danjou, Fabrice, Vidaihlet, Marie, Krack, Paul, Pelissier, Pierre, Morand, Dominique, Delaigue, Christine, Barun, Nadia, Anheim, Mathieu, Pleuvret, Marie, Destée, Alain, Defebvre, Luc, Moreau, Caroline, Simonin, Clémence, Ryckewaert, Gilles, Kreisler, Alexandre, Mutez, Eugénie, Carrière, Nicolas, Hopes, Lucie, Tard, Céline, Grolez, Guillaume, Dujardin, Kathy, Pecheux, Nathalie, Delliaux, Marie, Rolland, Anne-Sophie, Broussolle, Emmanuel, Laurencin, Chloè, Tison, François, Burbaud, Pierre, Mangone, Graziella, Bekadar, Samir, Cormier-Dequaire, Florence, Tahiri, Khadija, Welaratne, Arlette, Czernecki, Virginie, Pineau, Fanny, Karachi, Carine, Castrioto, Anna, Durif, Frank, Tranchant, Christine, Devos, David, Thobois, Stéphane, Meissner, Wassilios G, Navarro, Maria Soledad, Cornu, Philippe, Lesage, Suzanne, Brice, Alexis, Welter, Marie Laure, and Corvol, Jean-Christophe

Published
2020
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13. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Author

Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João RM, Sears, Renee L, Ramos, Eliana Marisa, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L, Goizet, Cyril, Jen, Joanna C, Kirdlarp, Suppachok, Lang, Anthony E, Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Simpson, Sheila A, Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K, Vanakker, Olivier, Wessels, Marja W, Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H, Battini, Jean-Luc, and Coppola, Giovanni

Subjects
Humans, Brain Diseases, Metabolic, Inborn, Neurodegenerative Diseases, Calcinosis, Genetic Predisposition to Disease, Receptors, G-Protein-Coupled, Receptors, Virus, Pedigree, DNA Mutational Analysis, Lod Score, Mutation, Missense, Middle Aged, Female, Male, Genetic Association Studies, HEK293 Cells, Xenotropic and Polytropic Retrovirus Receptor, Neurosciences, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC.

Published
2015

14. PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

Author

Fevga, Christina, Tesson, Christelle, Carreras Mascaro, Ana, Courtin, Thomas, Van Coller, Riaan, Sakka, Salma, Ferraro, Federico, Farhat, Nouha, Bardien, Soraya, Damak, Mariem, Carr, Jonathan, Ferrien, Melanie, Boumeester, Valerie, Hundscheid, Jasmijn, Grillenzoni, Nicola, Kessissoglou, Irini A., Kuipers, Demy J.S., Quadri, Marialuisa, Agid, Yves, Anheim, Mathieu, Borg, Michel, Brice, Alexis, Broussolle, Emmanuel, Corvol, Jean Christophe, Damier, Philippe, Defebvre, Luc, Dürr, Alexandra, Durif, Franck, Houeto, Jean Luc, Krack, Paul, Klebe, Stephan, Lesage, Suzanne, Lohmann, Ebba, Martinez, Maria, Mangone, Graziella, Mariani, Louise Laure, Pollak, Pierre, Rascol, Olivier, Tison, François, Tranchant, Christine, Verin, Marc, Viallet, François, Vidailhet, Marie, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Lu, Bedia Marangozog, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouchetara, Sofiane A., Benhassine, Traki, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Romdhan, Sawssan Ben, Mhiri, Chokri, Bouhouche, Ahmed, Bonifati, Vincenzo, Mandemakers, Wim, Kievit, Anneke J.A., Boon, Agnita J.W., Ferreira, Joaquim J., Guedes, Leonor Correia, Hanagasi, Hasmet A., Tufekcioglu, Zeynep, Elibol, Bulent, Dog.u, Okan, Gultekin, Murat, Chien, Hsin F., Barbosa, Egberto, Jardim, Laura Bannach, Rieder, Carlos R.M., Chang, Hsiu Chen, Lu, Chin Song, Wu-Chou, Yah Huei, Yeh, Tu Hsueh, Lopiano, Leonardo, Tassorelli, Cristina, Pacchetti, Claudio, Comi, Cristoforo, Raudino, Francesco, Bertolasi, Laura, Tinazzi, Michele, Bonizzato, Alberto, Ferracci, Carlo, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabrizio, Edito, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Vacca, Laura, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, Criscuolo, Chiara, De Mari, Michele, Dell'aquila, Claudia, Iliceto, Giovanni, Toni, Vincenzo, Trianni, Giorgio, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio, Hassan, Bassem A., Breedveld, Guido J., Erasmus University Medical Center [Rotterdam] (Erasmus MC), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Faculty of Health Sciences [Pretoria], University of Pretoria [South Africa], Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Stellenbosch University, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Motivation, cerveau et comportement = Motivation, Brain and Behavior [ICM Paris] (MBB), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Tesson, Christelle, Clinical Genetics, and Neurology

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, intellectual disability, PTPA, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], PPP2R4, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, parkinsonism, PP2A
Abstract

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including genome-wide linkage analysis, whole-exome sequencing, and Sanger sequencing of candidate variants. We next performed functional studies on the disease-associated variants in cultured cells and knock-down of ptpa in Drosophila melanogaster. We first identified a homozygous PTPA variant, c.893T>G (p.Met298Arg), in patients from a South African family with early-onset parkinsonism and intellectual disability. Screening of a large series of additional families yielded a second homozygous variant, c.512C>A (p.Ala171Asp), in a Libyan family with a similar phenotype. Both variants co-segregate with disease in the respective families. The affected subjects display juvenile-onset parkinsonism and intellectual disability. The motor symptoms were responsive to treatment with levodopa and deep brain stimulation of the subthalamic nucleus. In overexpression studies, both the PTPA p.Ala171Asp and p.Met298Arg variants were associated with decreased PTPA RNA stability and decreased PTPA protein levels; the p.Ala171Asp variant additionally displayed decreased PTPA protein stability. Crucially, expression of both variants was associated with decreased PP2A complex levels and impaired PP2A phosphatase activation. PTPA orthologue knock-down in Drosophila neurons induced a significant impairment of locomotion in the climbing test. This defect was age-dependent and fully reversed by L-DOPA treatment. We conclude that bi-allelic missense PTPA variants associated with impaired activation of the PP2A phosphatase cause autosomal recessive early-onset parkinsonism with intellectual disability. Our findings might also provide new insights for understanding the role of the PP2A complex in the pathogenesis of more common forms of neurodegeneration.

Published
2023

18. Stridor in multiple system atrophy: Consensus statement on diagnosis, prognosis, and treatment

Author

Cortelli, Pietro, Calandra-Buonaura, Giovanna, Benarroch, Eduardo E., Giannini, Giulia, Iranzo, Alex, Low, Phillip A., Martinelli, Paolo, Provini, Federica, Quinn, Niall, Tolosa, Eduardo, Wenning, Gregor K., Abbruzzese, Giovanni, Bower, Pamela, Alfonsi, Enrico, Ghorayeb, Imad, Ozawa, Tetsutaro, Pacchetti, Claudio, Pozzi, Nicolò Gabriele, Vicini, Claudio, Antonini, Angelo, Bhatia, Kailash P., Bonavita, Jacopo, Kaufmann, Horacio, Pellecchia, Maria Teresa, Pizzorni, Nicole, Schindler, Antonio, Tison, François, Vignatelli, Luca, and Meissner, Wassilios G.

Published
2019
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22. No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs

Author

Geissler, Julia M., Romanos, Marcel, Gerlach, Manfred, Berg, Daniela, Schulte, Claudia, Nalls, Mike, Plagnol, Vincent, Hernandez, Dena G., Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben-Shlomo, Yoav, Berendse, Henk W., Berg, Daniela, Bhatia, Kailash, de Bie, Rob M. A., Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M., Brockmann, Kathrin, Brooks, Janet, Burn, David J., Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F., Chong, Sean, Clarke, Carl E., Cookson, Mark R., Cooper, J. Mark, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T., van Dijk, Karin D., Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R., Foltynie, Thomas, Gao, Jianjun, Gardner, Michelle, Gibbs, J. Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Gústafsson, Ómar, Harris, Clare, van Hilten, Jacobus J., Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E., Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V., Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R., Morrison, Karen E., Mudanohwo, Ese, O’Sullivan, Sean S., Pearson, Justin, Perlmutter, Joel S., Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, Smith, Colin, Spencer, Chris C. A., Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D., Strange, Amy, Talbot, Kevin, Tanner, Carlie M., Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J., Uitterlinden, André G., Velseboer, Daan, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H., Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B., Wood, Nicholas W., and International Parkinson Disease Genomics Consortium members

Published
2017
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25. Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Author

Robak, Laurie A, Jansen, Iris E, van Rooij, Jeroen, Uitterlinden, André G, Kraaij, Robert, Jankovic, Joseph, Heutink, Peter, Shulman, Joshua M, Nalls, Mike A, Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben-, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Majounie, Elisa, Charlesworth, Gavin, Lungu, Codrin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Mark Cooper, J, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Raphael Gibbs, J, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, Lungu, Codrin, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Escott-Price, Valentina, Mudanohwo, Ese, O’Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Bettella, Francesco, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Wood, Nicholas W, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, and Singleton, Andrew B

Published
2017
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27. Simvastatin decreases levodopa-induced dyskinesia in monkeys, but not in a randomized, placebo-controlled, multiple cross-over (“n-of-1”) exploratory trial of simvastatin against levodopa-induced dyskinesia in Parkinson's disease patients

Author

Tison, François, Nègre-Pagès, Laurence, Meissner, Wassilios G., Dupouy, Sandrine, Li, Qin, Thiolat, Marie-Laure, Thiollier, Thibaud, Galitzky, Monique, Ory-Magne, Fabienne, Milhet, Agathe, Marquine, Laurent, Spampinato, Umberto, Rascol, Olivier, and Bezard, Erwan

Published
2013
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28. The natural history of multiple system atrophy: a prospective European cohort study

Author

Wenning, Gregor K, Geser, Felix, Krismer, Florian, Seppi, Klaus, Duerr, Susanne, Boesch, Sylvia, Köllensperger, Martin, Goebel, Georg, Pfeiffer, Karl P, Barone, Paolo, Pellecchia, Maria Teresa, Quinn, Niall P, Koukouni, Vasiliki, Fowler, Clare J, Schrag, Anette, Mathias, Christopher J, Giladi, Nir, Gurevich, Tanya, Dupont, Erik, Ostergaard, Karen, Nilsson, Christer F, Widner, Håkan, Oertel, Wolfgang, Eggert, Karla Maria, Albanese, Alberto, del Sorbo, Francesca, Tolosa, Eduardo, Cardozo, Adriana, Deuschl, Günther, Hellriegel, Helge, Klockgether, Thomas, Dodel, Richard, Sampaio, Cristina, Coelho, Miguel, Djaldetti, Ruth, Melamed, Eldad, Gasser, Thomas, Kamm, Christoph, Meco, Giuseppe, Colosimo, Carlo, Rascol, Olivier, Meissner, Wassilios G, Tison, François, and Poewe, Werner

Published
2013
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33. Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial

Author

Moreau, Caroline, Delval, Arnaud, Defebvre, Luc, Dujardin, Kathy, Duhamel, Alain, Petyt, Gregory, Vuillaume, Isabelle, Corvol, Jean-Christophe, Brefel-Courbon, Christine, Ory-Magne, Fabienne, Guehl, Dominique, Eusebio, Alexandre, Fraix, Valérie, Saulnier, Pierre-Jean, Lagha-Boukbiza, Ouhaid, Durif, Frank, Faighel, Mirela, Giordana, Caroline, Drapier, Sophie, Maltête, David, Tranchant, Christine, Houeto, Jean-Luc, Debû, Bettina, Sablonniere, Bernard, Azulay, Jean-Philippe, Tison, François, Rascol, Olivier, Vidailhet, Marie, Destée, Alain, Bloem, Bastiaan R, Bordet, Régis, and Devos, David

Published
2012
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35. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

Author

Hannequin, Didier, Campion, Dominique, Wallon, David, Martinaud, Olivier, Zarea, Aline, Nicolas, Gaël, Rollin-Sillaire, Adeline, Bombois, Stéphanie, Mackowiak, Marie-Anne, Deramecourt, Vincent, Pasquier, Florence, Michon, Agnès, Le Ber, Isabelle, Dubois, Bruno, Godefroy, Olivier, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Chamard, Ludivine, Berger, Eric, Magnin, Eloi, Dartigues, Jean-Francois, Auriacombe, Sophie, Tison, François, Sayette, Vincent de la, Castan, Dominique, Dionet, Elsa, Sellal, Francois, Rouaud, Olivier, Thauvin, Christel, Moreaud, Olivier, Sauvée, Mathilde, Formaglio, Maïté, Mollion, Hélène, Roullet-Solignac, Isabelle, Vighetto, Alain, Croisile, Bernard, Didic, Mira, Félician, Olivier, Koric, Lejla, Ceccaldi, Mathieu, Gabelle, Audrey, Marelli, Cecilia, Labauge, Pierre, Jonveaux, Thérèse, Vercelletto, Martine, Boutoleau-Bretonnière, Claire, Castelnovo, Giovanni, Paquet, Claire, Dumurgier, Julien, Hugon, Jacques, De Boisgueheneuc, Foucauld, Belliard, Serge, Bakchine, Serge, Sarazin, Marie, Barrellon, Marie-Odile, Laurent, Bernard, Blanc, Frédéric, Pariente, Jérémie, Jurici, Snejana, Bellenguez, Céline, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Le Guennec, Kilan, Chauhan, Ganesh, Rousseau, Stéphane, Richard, Anne Claire, Boland, Anne, Bourque, Guillaume, Munter, Hans Markus, Olaso, Robert, Meyer, Vincent, Letenneur, Luc, Redon, Richard, Dartigues, Jean-François, Tzourio, Christophe, Frebourg, Thierry, Lathrop, Mark, Deleuze, Jean-François, Genin, Emmanuelle, Amouyel, Philippe, Debette, Stéphanie, and Lambert, Jean-Charles

Published
2017
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37. Liste des auteurs

Author

Defebvre, Luc, primary, Vérin, Marc, additional, Anheim, Mathieu, additional, Azulay, Jean-Philippe, additional, Bleton, Jean-Pierre, additional, Brefel-Courbon, Christine, additional, Broussolle, Emmanuel, additional, Chrysostome, Virginie, additional, Corvol, Jean-Christophe, additional, Damier, Philippe, additional, Defebvre, Luc, additional, Derkinderen, Pascal, additional, Dujardin, Kathy, additional, Dürr, Alexandra, additional, Duyckaerts, Charles, additional, Fénelon, Gilles, additional, Fraix, Valérie, additional, Joyon, Natacha, additional, Krystkowiak, Pierre, additional, Lohmann, Ebba, additional, Maltête, David, additional, Moreau, Caroline, additional, Ory-Magne, Fabienne, additional, Robert, Gabriel, additional, Thobois, Stéphane, additional, Tison, François, additional, Viallet, François, additional, Vidailhet, Marie, additional, and Witjas, Tatiana, additional

Published
2015
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41. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinsonʼs disease with a sexual dimorphism

Author

Klebe, Stephan, Golmard, Jean-Louis, Nalls, Michael A, Saad, Mohamad, Singleton, Andrew B, Bras, Jose M, Hardy, John, Simon-Sanchez, Javier, Heutink, Peter, Kuhlenbäumer, Gregor, Charfi, Rim, Klein, Christine, Hagenah, Johann, Gasser, Thomas, Wurster, Isabel, Lesage, Suzanne, Lorenz, Delia, Deuschl, Günther, Durif, Franck, Pollak, Pierre, Damier, Philippe, Tison, François, Durr, Alexandra, Amouyel, Philippe, Lambert, Jean-Charles, Tzourio, Christophe, Maubaret, Cécilia, Charbonnier-Beaupel, Fanny, Tahiri, Khadija, Vidailhet, Marie, Martinez, Maria, Brice, Alexis, Corvol, Jean-Christophe, Agid, Y, Anheim, M, Bonnet, A-M, Borg, M, Brice, A., Broussolle, E, Corvol, J-C, Damier, Ph., Destée, A., Durr, A, Durif, F, Klebe, S, Lohmann, E, Martinez, M, Penet, C, Pollak, P, Krack, P, Rascol, O, Tison, F, Tranchant, C, Vérin, M, Viallet, F, Plagnol, Vincent, Bras, Jose M, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, Simón-Sánchez, Javier, Schulte, Claudia, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Amouyel, Philippe, Arepalli, Sampath, Band, Gavin, Barker, Roger A, Bellinguez, Céline, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob MA, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Corvol, Jean Christophe, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Freeman, Colin, Gao, Jianjun, Gardner, Michelle, Gibbs, Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Gústafsson, Ómar, Harris, Clare, Hellenthal, Garrett, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Morris, Huw, Morrison, Karen E, Mudanohwo, Ese, OʼSullivan, Sean S, Pearson, Justin, Pearson, Richard, Perlmutter, Joel S, Pétursson, Hjörvar, Pirinen, Matti, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, de Silva, Rohan, Smith, Colin, Spencer, Chris CA, Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Su, Zhan, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, G, Vandrovcova, Jana, Velseboer, Daan, Vidailhet, Marie, Vukcevic, Damjan, Walker, Robert, van de Warrenburg, Bart, Weale, Michael E, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Martinez, Maria, Donnelly, Peter, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Wood, Nicholas W, and Singleton, Andrew B

Published
2013
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42. Pathophysiology of L-dopa-induced motor and non-motor complications in Parkinsonʼs disease

Author

Bastide, Matthieu F., Meissner, Wassilios G., Picconi, Barbara, Fasano, Stefania, Fernagut, Pierre-Olivier, Feyder, Michael, Francardo, Veronica, Alcacer, Cristina, Ding, Yunmin, Brambilla, Riccardo, Fisone, Gilberto, Jon Stoessl, A., Bourdenx, Mathieu, Engeln, Michel, Navailles, Sylvia, De Deurwaerdère, Philippe, Ko, Wai Kin D., Simola, Nicola, Morelli, Micaela, Groc, Laurent, Rodriguez, Maria-Cruz, Gurevich, Eugenia V., Quik, Maryka, Morari, Michele, Mellone, Manuela, Gardoni, Fabrizio, Tronci, Elisabetta, Guehl, Dominique, Tison, François, Crossman, Alan R., Kang, Un Jung, Steece-Collier, Kathy, Fox, Susan, Carta, Manolo, Angela Cenci, M., and Bézard, Erwan

Published
2015
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43. Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson’s disease

Author

Moreau, Caroline, Meguig, Sayah, Corvol, Jean-Christophe, Labreuche, Julien, Vasseur, Francis, Duhamel, Alain, Delval, Arnaud, Bardyn, Thomas, Devedjian, Jean-Christophe, Rouaix, Nathalie, Petyt, Gregory, Brefel-Courbon, Christine, Ory-Magne, Fabienne, Guehl, Dominique, Eusebio, Alexandre, Fraix, Valérie, Saulnier, Pierre-Jean, Lagha-Boukbiza, Ouhaid, Durif, Frank, Faighel, Mirela, Giordana, Caroline, Drapier, Sophie, Maltête, David, Tranchant, Christine, Houeto, Jean-Luc, Debû, Bettina, Azulay, Jean-Philippe, Tison, François, Destée, Alain, Vidailhet, Marie, Rascol, Olivier, Dujardin, Kathy, Defebvre, Luc, Bordet, Régis, Sablonnière, Bernard, and Devos, David

Published
2015
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50. Genetic and phenotypic basis of autosomal dominant Parkinson's disease in a large multi-center cohort

Author

Lesage, Suzanne, Houot, Marion, Mangone, Graziella, Tesson, Christelle, Bertrand, Hélène, Forlani, Sylvie, Anheim, Mathieu, Brefel-Courbon, Christine, Broussolle, Emmanuel, Thobois, Stephane, Damier, Philippe, Durif, Franck, Roze, Emmanuel, Tison, François, Grabli, David, Ory-Magne, Fabienne, Degos, Bertrand, Viallet, François, Cormier-Dequaire, Florence, Ouvrard-Hernandez, Anne-Marie, Vidailhet, Marie, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SCCO]Cognitive science, Genotype-Phenotype correlations, [SCCO.NEUR]Cognitive science/Neuroscience, Autosomal dominant inheritance, Parkinson’s disease, G2019S, LRRK2, SNCA, MESH: Parkinson’s disease, SNCA, VPS35, VPS35
Abstract

International audience; LRRK2, SNCA and VPS35 are unequivocally associated with autosomal dominant Parkinson’s disease (PD). We evaluated the prevalence of LRRK2, SNCA and VPS35 mutations and associated clinical features in a large French multi-center cohort of PD patients. Demographic and clinical data were collected for 1805 index cases (592 with autosomal dominant inheritance and 1213 isolated cases) since 1990. All probands were screened with TaqMan assays for LRRK2 Gly2019Ser. In the absence of this mutation, the coding sequences of the three genes were analyzed by Sanger sequencing and/or next-generation sequencing. The data for the three genes were analyzed according to age at onset, family history, ethnic origin and clinical features. We identified 160 index cases (8.9%) with known pathogenic variants: 138 with pathogenic LRRK2 variants (7.6%), including 136 with the Gly2019Ser mutation, 19 with SNCA point mutations or genomic rearrangements (1.1%), and three with the VPS35 Asp620Asn mutation (0.16%). Mutation frequencies were higher in familial than isolated cases, consistent with autosomal dominant inheritance (12.0% vs. 7.3%; OR 1.7, 95% CI [1.2-2.4], p = 0.003). PD patients with LRRK2 variants were more likely to have higher rates of late-onset PD (> 50 years; OR 1.5, 95% CI [1.0-2.2], p = 0.03), whereas those with SNCA mutations tended to have earlier age at onset disease (≤ 50 years, p = 0.06). The clinical features of LRRK2 carriers and those without any pathogenic variants in known PD-associated genes were similar. The likelihood of detecting disease-causing mutations was higher in cases compatible with autosomal dominant inheritance.

Published
2020

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