Search Results - "TRANCHANT, Christine"

Autophagy-Lysosomal Pathway as Potential Therapeutic Target in Parkinson's Disease by Bonam, Srinivasa Reddy, Tranchant, Christine, Muller, Sylviane

“…Cellular quality control systems have gained much attention in recent decades. Among these, autophagy is a natural self-preservation mechanism that…”
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Ecological and genomic vulnerability to climate change across native populations of Robusta coffee (Coffea canephora) by Tournebize, Rémi, Borner, Leyli, Manel, Stéphanie, Meynard, Christine N., Vigouroux, Yves, Crouzillat, Dominique, Fournier, Coralie, Kassam, Mohamed, Descombes, Patrick, Tranchant‐Dubreuil, Christine, Parrinello, Hugues, Kiwuka, Catherine, Sumirat, Ucu, Legnate, Hyacinthe, Kambale, Jean‐Léon, Sonké, Bonaventure, Mahinga, Jose Cassule, Musoli, Pascal, Janssens, Steven B., Stoffelen, Piet, Kochko, Alexandre, Poncet, Valérie

“…The assessment of population vulnerability under climate change is crucial for planning conservation as well as for ensuring food security. Coffea canephora…”
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Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B) by Wirth, Thomas, Clément, Guillemette, Delvallée, Clarisse, Bonnet, Céline, Bogdan, Thomas, Iosif, Andra, Schalk, Audrey, Chanson, Jean-Baptiste, Pellerin, David, Brais, Bernard, Roth, Virginie, Wandzel, Marion, Fleury, Marie-Céline, Piton, Amélie, Calmels, Nadège, Namer, Izzie Jacques, Kremer, Stéphane, Tranchant, Christine, Renaud, Mathilde, Anheim, Mathieu

“…Heterozygous GAA expansions in the FGF14 gene have been related to autosomal dominant cerebellar ataxia (SCA27B-MIM:620174). Whether they represent a common…”
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Characterization of Recessive Parkinson Disease in a Large Multicenter Study by Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohamed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean‐Christophe, Brice, Alexis, Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Ben Romdhan, Sawssan, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Le Toullec, Benjamin, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Ben Djebara, Mouna, Gouider, Riadh, Tazir, Meriem, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andy, Corvol, Jean‐Christophe, Brice, Alexis

“…Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene‐targeting approaches for Parkinson…”
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Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis: A Randomized Clinical Trial by Sharshar, Tarek, Porcher, Raphaël, Demeret, Sophie, Tranchant, Christine, Gueguen, Antoine, Eymard, Bruno, Nadaj-Pakleza, Aleksandra, Spinazzi, Marco, Grimaldi, Lamiae, Birnbaum, Simone, Friedman, Diane, Clair, Bernard

“…The tapering of prednisone therapy in generalized myasthenia gravis (MG) presents a therapeutic dilemma; however, the recommended regimen has not yet been…”
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Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial by Haïk, Stéphane, MD, Marcon, Gabriella, MD, Mallet, Alain, Prof, Tettamanti, Mauro, PhD, Welaratne, Arlette, Giaccone, Giorgio, MD, Azimi, Shohreh, BSc, Pietrini, Vladimiro, MD, Fabreguettes, Jean-Roch, PharmD, Imperiale, Daniele, MD, Cesaro, Pierre, Prof, Buffa, Carlo, MD, Aucan, Christophe, PhD, Lucca, Ugo, MSc, Peckeu, Laurène, MSc, Suardi, Silvia, PhD, Tranchant, Christine, Prof, Zerr, Inga, Prof, Houillier, Caroline, MD, Redaelli, Veronica, MD, Vespignani, Hervé, Prof, Campanella, Angela, BSN, Sellal, François, MD, Krasnianski, Anna, MD, Seilhean, Danielle, Prof, Heinemann, Uta, MD, Sedel, Frédéric, MD, Canovi, Mara, PhD, Gobbi, Marco, PhD, Di Fede, Giuseppe, MD, Laplanche, Jean-Louis, Prof, Pocchiari, Maurizio, MD, Salmona, Mario, PhD, Forloni, Gianluigi, PhD, Brandel, Jean-Philippe, MD, Tagliavini, Fabrizio, Dr

“…Summary Background Creutzfeldt-Jakob disease (CJD) is a fatal, untreatable prion encephalopathy. Previous studies showed that doxycycline is effective in…”
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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort by Montaut, Solveig, Diedhiou, Nadège, Fahrer, Pauline, Marelli, Cécilia, Lhermitte, Benoit, Robelin, Laura, Vincent, Marie Claire, Corti, Lucas, Taieb, Guillaume, Gebus, Odile, Rudolf, Gabrielle, Tarabeux, Julien, Dondaine, Nicolas, Canuet, Matthieu, Almeras, Marilyne, Benkirane, Mehdi, Larrieu, Lise, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Echaniz-Laguna, Andoni, Cauquil, Cécile, Lannes, Béatrice, Chelly, Jamel, Anheim, Mathieu, Puccio, Hélène, Tranchant, Christine

“…Objective Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar,…”
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Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex by Tarrano, Clément, Galléa, Cécile, Delorme, Cécile, McGovern, Eavan M., Atkinson-Clement, Cyril, Brochard, Vanessa, Thobois, Stéphane, Tranchant, Christine, Grabli, David, Degos, Bertrand, Corvol, Jean Christophe, Pedespan, Jean-Michel, Krystkowiak, Pierre, Houeto, Jean-Luc, Degardin, Adrian, Defebvre, Luc, Beranger, Benoit, Martino, Davide, Apartis, Emmanuelle, Vidailhet, Marie, Roze, Emmanuel, Worbe, Yulia

“…Psychiatric symptoms are common in neurodevelopmental movement disorders, including some types of dystonia. However, research has mainly focused on motor…”
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Primary brain calcification: an international study reporting novel variants and associated phenotypes by Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L, Innes, A Micheil, Ross, Alison, Dobyns, William B, Alcantara, Diana, O'Driscoll, Mark, Hannequin, Didier, Campion, Dominique, Oliveira, João R, Garavaglia, Barbara, Coppola, Giovanni, Nicolas, Gaël

“…Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric…”
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Parkinsonian-Pyramidal syndromes: A systematic review by Tranchant, Christine, MD, Koob, Meriam, MD PHD, Anheim, Mathieu, MD PHD

“…Abstract Introduction Parkinsonian-Pyramidal syndrome (PPS), defined as the combination of both pyramidal and parkinsonian signs is a concept that recently…”
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Imbalanced motivated behaviors according to motor sign asymmetry in drug-naïve Parkinson’s disease by Béreau, Matthieu, Castrioto, Anna, Servant, Mathieu, Lhommée, Eugénie, Desmarets, Maxime, Bichon, Amélie, Pélissier, Pierre, Schmitt, Emmanuelle, Klinger, Hélène, Longato, Nadine, Phillipps, Clélie, Wirth, Thomas, Fraix, Valérie, Benatru, Isabelle, Durif, Franck, Azulay, Jean-Philippe, Moro, Elena, Broussolle, Emmanuel, Thobois, Stéphane, Tranchant, Christine, Krack, Paul, Anheim, Mathieu

“…Few studies have considered the influence of motor sign asymmetry on motivated behaviors in de novo drug-naïve Parkinson’s disease (PD). We tested whether…”
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Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy by Gueneau, Lucie, Bertrand, Anne T., Jais, Jean-Philippe, Salih, Mustafa A., Stojkovic, Tanya, Wehnert, Manfred, Hoeltzenbein, Maria, Spuler, Simone, Saitoh, Shinji, Verschueren, Annie, Tranchant, Christine, Beuvin, Maud, Lacene, Emmanuelle, Romero, Norma B., Heath, Simon, Zelenika, Diana, Voit, Thomas, Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle

“…Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with…”
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Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial by Moreau, Caroline, MD, Delval, Arnaud, MD, Defebvre, Luc, MD, Dujardin, Kathy, PhD, Duhamel, Alain, PhD, Petyt, Gregory, MD, Vuillaume, Isabelle, MD, Corvol, Jean-Christophe, MD, Brefel-Courbon, Christine, MD, Ory-Magne, Fabienne, MD, Guehl, Dominique, MD, Eusebio, Alexandre, MD, Fraix, Valérie, MD, Saulnier, Pierre-Jean, MD, Lagha-Boukbiza, Ouhaid, MD, Durif, Frank, MD, Faighel, Mirela, MD, Giordana, Caroline, MD, Drapier, Sophie, MD, Maltête, David, MD, Tranchant, Christine, MD, Houeto, Jean-Luc, MD, Debû, Bettina, MD, Sablonniere, Bernard, MD, Azulay, Jean-Philippe, MD, Tison, François, MD, Rascol, Olivier, MD, Vidailhet, Marie, MD, Destée, Alain, MD, Bloem, Bastiaan R, MD, Bordet, Régis, MD, Devos, David, Dr

“…Summary Background Despite optimum medical management, many patients with Parkinson's disease are incapacitated by gait disorders including freezing of gait…”
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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect by Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, De Gaillarbois, Thierry Dubard, Roze, Emmanuel, Lamari, Foudil, Vanier, Marie T, Héron, Bénédicte

“…Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes…”
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Quantification of Head Tremors in Medical Conditions: A Comparison of Analyses Using a 2D Video Camera and a 3D Wireless Inertial Motion Unit by Amarantini, David, Rieu, Isabelle, Castelnovo, Giovanni, Fluchère, Frédérique, Laurencin, Chloé, Degos, Bertrand, Poujois, Aurélia, Kreisler, Alexandre, Sangla, Sophie, Tir, Mélissa, Benatru, Isabelle, Blanchet-Fourcade, Geneviève, Guehl, Dominique, Gayraud, Dominique, Tatu, Laurent, Tranchant, Christine, Durif, Franck, Simonetta-Moreau, Marion

“…This study compares two methods to quantify the amplitude and frequency of head movements in patients with head tremor: one based on video-based motion…”
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Ability of pulmonary function decline to predict death in amyotrophic lateral sclerosis patients by Enache, Irina, Pistea, Cristina, Fleury, Marie, Schaeffer, Mickael, Oswald-Mammosser, Monique, Echaniz-Laguna, Andoni, Tranchant, Christine, Meyer, Nicolas, Charloux, Anne

“…Objectives: Objectives were to evaluate the relative risk of death associated with lung function decline in patients with amyotrophic lateral sclerosis (ALS),…”
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Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson's disease by 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, Devos, David

“…After more than 50 years of treating Parkinson's disease with l-DOPA, there are still no guidelines on setting the optimal dose for a given patient. The…”
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Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia by Renaud, Mathilde, Guissart, Claire, Mallaret, Martial, Ferdinandusse, Sacha, Cheillan, David, Drouot, Nathalie, Muller, Jean, Claustres, Mireille, Tranchant, Christine, Anheim, Mathieu, Koenig, Michel

“…Peroxisomal biogenesis disorders (PBDs) consist of a heterogeneous group of autosomal recessive diseases, in which peroxisome assembly and proliferation are…”
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FrangiPANe, a tool for creating a panreference using left behind reads by Christine, Tranchant-Dubreuil, Clothilde, Chenal, Mathieu, Blaison, Laurence, Albar, Valentin, Klein, Cédric, Mariac, Wing Rod, A., Yves, Vigouroux, Francois, Sabot

“…Abstract We present here FrangiPANe, a pipeline developed to build panreference using short reads through a map-then-assemble strategy. Applying it to 248…”
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Neuroendocrine disturbances in Huntington's disease by Saleh, Nadine, Moutereau, Stéphane, Durr, Alexandra, Krystkowiak, Pierre, Azulay, Jean-Philippe, Tranchant, Christine, Broussolle, Emmanuel, Morin, Françoise, Bachoud-Lévi, Anne-Catherine, Maison, Patrick

“…Huntington's disease (HD) is a severe inherited neurodegenerative disorder characterized, in addition to neurological impairment, by weight loss suggesting…”
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