Suchergebnisse - Marie‐Lorraine Monin

  • Treffer 1 - 20 von 20
Treffer weiter einschränken
  1. 1
    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 von 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

    Veröffentlicht 2015
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  2. 2
    A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

    A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia von Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie‐Lorraine Monin, Kunié Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Philippe Lory, Giovanni Stévanin

    Veröffentlicht 2015
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  3. 3
    TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

    TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment von Jérôme Delplanque, David Devos, Vincent Huin, Alexandre Genet, Olivier Sand, Caroline Moreau, Cyril Goizet, Perrine Charles, Mathieu Anheim, Marie Lorraine Monin, Luc Buée, A. Destée, Guillaume Grolez, Christine Delmaire, Kathy Dujardin, Delphine Dellacherie, Alexis Brice, Giovanni Stévanin, Isabelle Strubi-Vuillaume, Alexandra Dürr, Bernard Sablonnière

    Veröffentlicht 2014
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  4. 4
    Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

    Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion von Masato Obayashi, Giovanni Stévanin, Matthis Synofzik, Marie‐Lorraine Monin, Charles Duyckaerts, Nozomu Sato, Nathalie Streichenberger, Alain Vighetto, Virginie Desestret, Christelle Tesson, H‐Erich Wichmann, Thomas Illig, Johanna Huttenlocher, Yasushi Kita, Yuishin Izumi, Hidehiro Mizusawa, Lüdger Schöls, Thomas Klopstock, Alexis Brice, Kinya Ishikawa, Alexandra Dürr

    Veröffentlicht 2014
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  5. 5
    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 von 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

    Veröffentlicht 2022
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  6. 6
    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype von Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu‐Dramard, C Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire De Barace, Valérie Drouin‐Garraud, Philippe Khau Van Kien, Valérie Cormier‐Daire, M. Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron

    Veröffentlicht 2014
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  7. 7
    Motor neuron pathology in CANVAS due to <i>RFC1</i> expansions

    Motor neuron pathology in CANVAS due to <i>RFC1</i> expansions von 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

    Veröffentlicht 2021
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  8. 8
    Mutations in <i>KCND3</i> cause spinocerebellar ataxia type 22

    Mutations in <i>KCND3</i> cause spinocerebellar ataxia type 22 von Yi‐Chung Lee, Alexandra Dürr, Karen Majczenko, Yen‐Hua Huang, Yu‐Chao Liu, Cheng‐Chang Lien, Pei‐Chien Tsai, Yaeko Ichikawa, Jun Goto, Marie‐Lorraine Monin, Jun Z. Li, Ming‐Yi Chung, Emeline Mundwiller, Vikram G. Shakkottai, Tze‐Tze Liu, Christelle Tesson, Yi‐Chun Lu, Alexis Brice, Shoji Tsuji, Margit Burmeister, Giovanni Stévanin, Bing‐Wen Soong

    Veröffentlicht 2012
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  9. 9
    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 von 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

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  10. 10
    Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

    Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5 von 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

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  11. 11
    Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study

    Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study von Heike Jacobi, Sophie Tézenas du Montcel, Sandro Romanzetti, Florian Harmuth, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Grzegorz Makowicz, Alexandra Dürr, Marie-Lorraine Monin, Alessandro Filla, Alessandro Roca, Lüdger Schöls, Holger Hengel, Jon Infante, Jun-Suk Kang, Dagmar Timmann, Carlo Casali, Marcella Masciullo, László Balikó, Béla Melegh, Wolfgang Nachbauer, Katrin Bürk-Gergs, Jörg B. Schulz, Olaf Rieß, Kathrin Reetz, Thomas Klockgether

    Veröffentlicht 2020
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  12. 12
    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 von 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

    Veröffentlicht 2018
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  13. 13
    Nonataxia symptoms in Friedreich Ataxia

    Nonataxia symptoms in Friedreich Ataxia von 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

    Veröffentlicht 2018
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  14. 14
    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 von 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

    Veröffentlicht 2016
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  15. 15
    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> von 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

    Veröffentlicht 2019
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  16. 16
    Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

    Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia von Christelle Tesson, Magdalena Nawara, Mustafa A. Salih, Rodrigue Rossignol, Maha S. Zaki, Mohammed Al Balwi, Rebecca Schüle, Cyril Mignot, Émilie Obre, Ahmed Bouhouche, Filippo M. Santorelli, Christelle Durand, Andrés Caballero-Oteyza, Khalid H. El-Hachimi, Abdulmajeed Al Drees, Naïma Bouslam, Foudil Lamari, Salah A. Elmalik, Mohammad M. Kabiraj, Mohammed Zain Seidahmed, Typhaine Esteves, Marion Gaussen, Marie-Lorraine Monin, Gàbor Gyapay, Doris Lechner, Michael Gonzalez, Christel Depienne, Fanny Mochel, Julie Lavie, Lüdger Schöls, Didier Lacombe, Mohamed Yahyaoui, Ibrahim Al Abdulkareem, Stephan Züchner, Atsushi Yamashita, Ali Benomar, Cyril Goizet, Alexandra Dürr, Joseph G. Gleeson, Frédéric Darios, Alexis Brice, Giovanni Stévanin

    Veröffentlicht 2012
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  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 von 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

    Veröffentlicht 2018
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  18. 18
    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 von 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

    Veröffentlicht 2021
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  19. 19
    Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

    Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions von Jean‐Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie‐Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot‐Noël, Sylvie Forlani, Ludmila Jornéa, Anna Heinzmann, Aude Sangaré, Bertrand Gaymard, Lucie Guyant‐Maréchal, Perrine Charles, Cécilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, M. Simonetta‐Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stévanin, Sandrine Noël, Anne‐Laure Fauret‐Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Dürr

    Veröffentlicht 2023
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  20. 20
    A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

    A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency von Sandra Jansen, Alexander Hoischen, Bradley P. Coe, Gemma L. Carvill, Hilde Van Esch, Daniëlle G.M. Bosch, Ulla A. Andersen, Carl Baker, Marijke Bauters, Raphael Bernier, Bregje W.M. van Bon, Hedi L. Claahsen‐van der Grinten, Jozef Gécz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David A. Koolen, Malin Kvarnung, Martin J. Larsen, Carlo Marcelis, F. Ellis McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J.C. Stevens, Connie T. R. M. Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A. Veltman, Han G. Brunner, Heather C. Mefford, Corrado Romano, Lisenka E.L.M. Vissers, Evan E. Eichler, Bert B.A. de Vries

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:

Suchwerkzeuge: