檢索結果 - Claire Ewenczyk

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  1. 1
    Comparative Study of MRI Biomarkers in the Substantia Nigra to Discriminate Idiopathic Parkinson Disease

    Comparative Study of MRI Biomarkers in the Substantia Nigra to Discriminate Idiopathic Parkinson Disease 由 Nadya Pyatigorskaya, Benoît Magnin, M Mongin, Lydia Yahia-Chérif, Romain Valabrègue, Dario Arnaldi, Claire Ewenczyk, Cyril Poupon, Marie Vidailhet, Stéphane Lehericy

    出版 2018
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  2. 2
    Multimodal magnetic resonance imaging investigation of basal forebrain damage and cognitive deficits in Parkinson's disease

    Multimodal magnetic resonance imaging investigation of basal forebrain damage and cognitive deficits in Parkinson's disease 由 Fatma Gargouri, Cécile Galléa, M Mongin, Nadya Pyatigorskaya, Romain Valabrègue, Claire Ewenczyk, Marie Sarazin, Lydia Yahia‐Cherif, Marie Vidailhet, Stéphane Lehéricy

    出版 2018
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  3. 3
    Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum

    Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum 由 Claire Ewenczyk, A Leroux, Anne Roubergue, Vincent Laugel, Alexandra Afenjar, Jean Marie Saudubray, P Beauvais, T Billette de Villemeur, Marie Vidailhet, Emmanuel Roze

    出版 2008
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  4. 4
    A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

    A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia 由 Françoise Pousset, L. Legrand, Marie‐Lorraine Monin, Claire Ewenczyk, Perrine Charles, Michel Komajda, Alexis Brice, Massimo Pandolfo, Richard Isnard, Sophie Tézenas du Montcel, Alexandra Dürr

    出版 2015
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  5. 5
    Spatiotemporal changes in substantia nigra neuromelanin content in Parkinson’s disease

    Spatiotemporal changes in substantia nigra neuromelanin content in Parkinson’s disease 由 Emma Biondetti, Rahul Gaurav, Lydia Yahia-Chérif, Graziella Mangone, Nadya Pyatigorskaya, Romain Valabrègue, Claire Ewenczyk, Matthew Hutchison, Chantal François, Isabelle Arnulf, Jean‐Christophe Corvol, Marie Vidailhet, Stéphane Lehericy

    出版 2020
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  6. 6
    Longitudinal Changes in Neuromelanin MRI Signal in Parkinson's Disease: A Progression Marker

    Longitudinal Changes in Neuromelanin MRI Signal in Parkinson's Disease: A Progression Marker 由 Rahul Gaurav, Lydia Yahia-Chérif, Nadya Pyatigorskaya, Graziella Mangone, Emma Biondetti, Romain Valabrègue, Claire Ewenczyk, R. Matthew Hutchison, Jesse M. Cedarbaum, Jean‐Christophe Corvol, Marie Vidailhet, Stéphane Lehericy

    出版 2021
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  7. 7
    The coeruleus/subcoeruleus complex in rapid eye movement sleep behaviour disorders in Parkinson’s disease

    The coeruleus/subcoeruleus complex in rapid eye movement sleep behaviour disorders in Parkinson’s disease 由 Daniel García-Lorenzo, Clarisse Longo-Dos Santos, Claire Ewenczyk, Smaranda Leu‐Semenescu, Cécile Gallea, Graziella Quattrocchi, Patrícia Pita Lobo, Cyril Poupon, Habib Benali, Isabelle Arnulf, Marie Vidailhet, Stéphane Lehericy

    出版 2013
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  8. 8
    Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial

    Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial 由 Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Clara Fischer, Marie Chupin, Marie‐Lorraine Monin, Hortense Hurmic, Fabienne Calvas, Patrick Calvas, Cyril Goizet, Stéphane Thobois, Mathieu Anheim, Karine Nguyen, David Devos, Christophe Verny, Vito A. G. Ricigliano, Jean‐François Mangin, Alexis Brice, Sophie Tézenas du Montcel, Alexandra Dürr

    出版 2022
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  9. 9
    Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

    Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? 由 Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, Maximilien Porché, Léna Guillot‐Noël, Sabrina Sayah, Anne-Laure Fauret, Jean‐Philippe Neau, Lucie Guyant‐Maréchal, Didier Deffond, Christine Tranchant, Cyril Goizet, Giulia Coarelli, Anna Castrioto, Stephan Klebe, Claire Ewenczyk, Anna Heinzmann, Perrine Charles, Maya Tchikviladzé, Christine Van Broeckhoven, Alexis Brice, Alexandra Dürr

    出版 2022
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  10. 10
    Motor neuron pathology in CANVAS due to <i>RFC1</i> expansions

    Motor neuron pathology in CANVAS due to <i>RFC1</i> expansions 由 Vincent Huin, Giulia Coarelli, Clément Guemy, Susana Boluda, Rabab Debs, Fanny Mochel, Tanya Stojkovic, David Grabli, Thierry Maisonobe, Bertrand Gaymard, Timothée Lenglet, Céline Tard, Jean Baptiste Davion, Bernard Sablonnière, Marie Lorraine Monin, Claire Ewenczyk, Karine Viala, Perrine Charles, Isabelle Le Ber, Mary M Reilly, Henry Houlden, Andrea Cortese, Danielle Seilhean, Alexis Brice, Alexandra Dürr

    出版 2021
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  11. 11
    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies 由 Marie Coutelier, Giulia Coarelli, Marie‐Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Béhin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stévanin, Alexandra Dürr

    出版 2017
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  12. 12
    Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

    Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5 由 Cécilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Lydie Humbert, Marie‐Lorraine Monin, Élodie Petit, Rabab Debs, Giovanni Castelnovo, Elisabeth Ollagnon, Julie Lavie, Julie Pilliod, Isabelle Coupry, Patrick J. Babin, Claire Guissart, Imen Benyounes, Urielle Ullmann, Gaëtan Lesca, Christel Thauvin‐Robinet, Pierre Labauge, Sylvie Odent, Claire Ewenczyk, Claude Wolf, Giovanni Stévanin, David Hajage, Alexandra Dürr, Cyril Goizet, Fanny Mochel

    出版 2017
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  13. 13
    Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

    Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes 由 Marie Coutelier, Monia Hammer, Giovanni Stévanin, Marie‐Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, T. de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon‐Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Dürr

    出版 2018
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  14. 14
    Nonataxia symptoms in Friedreich Ataxia

    Nonataxia symptoms in Friedreich Ataxia 由 Kathrin Reetz, Imis Dogan, Christian Hohenfeld, Claire Didszun, Paola Giunti, Caterina Mariotti, Alexandra Dürr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Lüdger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Jörg B. Schulz, Wolfgang Nachbauer, Andreas Eigentler, Chantal Depondt, Sandra Benaich, Perrine Charles, Claire Ewenczyk, Marie‐Lorraine Monin, Kathrin Fedosov, Manuel Dafotakis, Thomas Klockgether, Dagmar Timmann, Ivan Karin, Christiane Neuhofer, Claudia Stendel, Jennifer Müller vom Hagen, Julia Wolf, Lidia Sarro, Lorenzo Nanetti, Anna Castaldo, Javier Arpa, Irene Sanz‐Gallego, Michael Parkinson, Mary G. Sweeney

    出版 2018
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  15. 15
    Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

    Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study 由 Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Caterina Mariotti, Alexandra Dürr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Lüdger Schöls, Thomas Klockgether, Katrin Bürk, Myriam Rai, Massimo Pandolfo, Jörg B. Schulz, Wolfgang Nachbauer, Andreas Eigentler, Chantal Depondt, Sandra Benaich, Perrine Charles, Claire Ewenczyk, Marie‐Lorraine Monin, Manuel Dafotakis, Kathrin Fedosov, Claire Didszun, Ummehan Ermis, Ilaria Giordano, Dagmar Timmann, Ivan Karin, Christiane Neuhofer, Claudia Stendel, Jennifer Müller vom Hagen, Julia Wolf, Marta Panzeri, Lorenzo Nanetti, Anna Castaldo, Javier Arpa, Irene Sanz‐Gallego, Michael Parkinson, Mary G. Sweeney

    出版 2016
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  16. 16
    Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>

    Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i> 由 Giulia Coarelli, Rebecca Schüle, Bart P.C. van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G. Hamer, Jonathan Baets, Mathieu Anheim, Lüdger Schöls, Tine Deconinck, Pegah Masrori, Bertrand Fontaine, Thomas Klockgether, Maria Grazia D’Angelo, Marie-Lorraine Monin, Jan De Bleecker, Isabelle Migeotte, Perrine Charles, Maria Teresa Bassi, Thomas Klopstock, Fanny Mochel, Elisabeth Ollagnon‐Roman, Marc D’Hooghe, Christoph Kamm, Delia Kurzwelly, Mélanie Papin, Claire‐Sophie Davoine, Guillaume Banneau, Sophie Tézenas du Montcel, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Giovanni Stévanin, Alexandra Dürr

    出版 2019
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  17. 17
    Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

    Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex 由 Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tézenas du Montcel, Marie‐Lorraine Monin, Samia Ait Said, Justine Guégan, Chantal Tallaksen, Bertrand Sablonniere, Alexis Brice, Giovanni Stévanin, Christel Depienne, Alexandra Dürr, Myriem Abada, Mathieu Anheim, Dominique Bonneau, Perrine Charles, Pierre Clavelou, Giulia Coarelli, Paula Coutinho, Rabab Debs, N. Elleuch, Claire Ewenczyk, Imed Feki, Xavier Ferrer, Bertrand Fontaine, Cyril Goizet, Lucie Guyant‐Maréchal, Didier Hannequin, Solveig Heide, Abdoul Kassar, Pierre Labauge, A Lagueny, Isabelle Le Ber, Timothée Lenglet, Lionel Van Maldergem, Cécilia Marelli, Karine Nguyen, Diana Rodriguez, Tanya Stojkovic, Alina Tataru, Maya Tchikviladzé, Christine Tranchant, N. Vandenberghe

    出版 2018
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  18. 18
    Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients

    Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients 由 Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, C.A. Bingman, Selina Reich, Jan Marco Kern, Anna Heinzmann, Gessica Vasco, Enrico Bertini, Ginevra Zanni, Alexandra Dürr, Stefania Magri, Franco Taroni, Alessandro Malandrini, Jonathan Baets, Peter De Jonghe, Willem De Ridder, Matthieu Béreau, Stephanie Demuth, Christos Ganos, A. Nazlı Başak, Haşmet Hanağası, Semra Hız Kurul, Benjamin Bender, Lüdger Schöls, Ute Grasshoff, Thomas Klopstock, Rita Horváth, Bart van de Warrenburg, Lydie Bürglen, Christelle Rougeot, Claire Ewenczyk, Michel Kœnig, Filippo M. Santorelli, Mathieu Anheim, Renato P. Munhoz, Tobias B. Haack, Felix Distelmaier, David J. Pagliarini, Hélène Puccio, Matthis Synofzik

    出版 2020
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  19. 19
    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp>

    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp> 由 Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren A. Marks, Lydie Bürglen, Diane Demailly, Phillipe Coubes, Mayté Castro Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Németh, Martin A. Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Béroud, Fernando Delgado Acosta, C. Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim

    出版 2022
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  20. 20
    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study 由 Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Michael Parkinson, Caterina Mariotti, Lorenzo Nanetti, Alexandra Dürr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Christian Rummey, Lüdger Schöls, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Jörg B. Schulz, Robyn Labrum, Gilbert Thomas‐Black, Katarina Manso, Nita Solanky, Cinzia Gellera, Alessia Mongelli, Anna Castaldo, Mario Fichera, Francesc Palau, Mar O’Callaghan, Marie Biet, Marie Lorraine Monin, Andreas Eigentler, Elisabetta Indelicato, Matthias Amprosi, Florentine Radelfahr, A. Bischoff, Florian Holtbernd, Nikolina Brčina, Christian Hohenfeld, Georgios Koutsis, Marianthi Breza, Enrico Bertini, Gessica Vasco

    出版 2021
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