Resultats de la cerca - Andoni Echaniz‐Laguna

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  1. 1
    Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future

    Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future per Suzan Boutary, Andoni Echaniz‐Laguna, David Adams, Julien Loisel‐Duwattez, Michaël Schumacher, Charbel Massaad, Liliane Massaad-Massade

    Publicat 2020
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  2. 2
    Opposite effects of statins on mitochondria of cardiac and skeletal muscles: a ‘mitohormesis’ mechanism involving reactive oxygen species and PGC-1

    Opposite effects of statins on mitochondria of cardiac and skeletal muscles: a ‘mitohormesis’ mechanism involving reactive oxygen species and PGC-1 per Jamal Bouitbir, Anne‐Laure Charles, Andoni Echaniz‐Laguna, Michel Kindo, Frédéric Daussin, Johan Auwerx, François Piquard, Bernard Gény, Joffrey Zoll

    Publicat 2011
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  3. 3
    Sodium Valproate Exerts Neuroprotective Effects<i>In Vivo</i>through CREB-Binding Protein-Dependent Mechanisms But Does Not Improve Survival in an Amyotrophic Lateral Sclerosis Mouse Model

    Sodium Valproate Exerts Neuroprotective Effects<i>In Vivo</i>through CREB-Binding Protein-Dependent Mechanisms But Does Not Improve Survival in an Amyotrophic Lateral Sclerosis Mou... per Caroline Rouaux, Irina Panteleeva, Frédérique René, José‐Luis González de Aguilar, Andoni Echaniz‐Laguna, Luc Dupuis, Yannick Menger, Anne‐Laurence Boutillier, Jean‐Philippe Loeffler

    Publicat 2007
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  4. 4
    A metabolic switch toward lipid use in glycolytic muscle is an early pathologic event in a mouse model of amyotrophic lateral sclerosis

    A metabolic switch toward lipid use in glycolytic muscle is an early pathologic event in a mouse model of amyotrophic lateral sclerosis per Lavinia Palamiuc, A. Schlagowski, Shyuan T. Ngo, Aurélia Vernay, Sylvie Dirrig‐Grosch, Alexandre Henriques, Anne‐Laurence Boutillier, Joffrey Zoll, Andoni Echaniz‐Laguna, Jean‐Philippe Loeffler, Frédérique René

    Publicat 2015
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  5. 5
    Muscle Mitochondrial Uncoupling Dismantles Neuromuscular Junction and Triggers Distal Degeneration of Motor Neurons

    Muscle Mitochondrial Uncoupling Dismantles Neuromuscular Junction and Triggers Distal Degeneration of Motor Neurons per Luc Dupuis, José‐Luis González de Aguilar, Andoni Echaniz‐Laguna, Judith Eschbach, Frédérique René, Hugues Oudart, Benoît Halter, Caroline Huzé, Laurent Schaeffer, Frédéric Bouillaud, Jean‐Philippe Loeffler

    Publicat 2009
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  6. 6
    SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

    SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease per Andoni Echaniz‐Laguna, Daniele Ghezzi, Maïté Chassagne, Martine Mayençon, Sylvie Padet, Laura Melchionda, Isabelle Rouvet, Béatrice Lannes, Dominique Bozon, Philippe Latour, Massimo Zeviani, Bénédicte Mousson de Camaret

    Publicat 2013
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  7. 7
    Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers

    Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers per Diane Beauvais, Céline Labeyrie, Cécile Cauquil, Bruno Francou, Ludivine Eliahou, Adeline Not, Andoni Echaniz‐Laguna, Clovis Adam, Michel Slama, Anouar Benmalek, Luca Leonardi, François Rouzet, David Adams, Vincent Algalarrondo, Guillemette Beaudonnet

    Publicat 2023
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  8. 8
    Degeneration of serotonergic neurons in amyotrophic lateral sclerosis: a link to spasticity

    Degeneration of serotonergic neurons in amyotrophic lateral sclerosis: a link to spasticity per Christel Dentel, Lavinia Palamiuc, Alexandre Henriques, Béatrice Lannes, Odile Spreux‐Varoquaux, Lise Gutknecht, Frédérique René, Andoni Echaniz‐Laguna, José‐Luis González de Aguilar, Klaus‐Peter Lesch, Vincent Meininger, Jean‐Philippe Loeffler, Luc Dupuis

    Publicat 2012
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  9. 9
    Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation

    Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation per Gilles Morin, Valérie Biancalana, Andoni Echaniz‐Laguna, Jean‐Baptiste Noury, Xavière Lornage, Maurizio Moggio, Michela Ripolone, Raffaella Violano, Pascale Marcorelles, Denis Maréchal, Florence Renaud, Claude‐Alain Maurage, Céline Tard, Jean‐Marie Cuisset, Jocelyn Laporte, Johann Böhm

    Publicat 2019
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  10. 10
    Next generation sequencing for molecular diagnosis of neuromuscular diseases

    Next generation sequencing for molecular diagnosis of neuromuscular diseases per Nasim Vasli, Johann Böhm, Stéphanie Le Gras, Jean Muller, Cécile Pizot, Bernard Jost, Andoni Echaniz‐Laguna, Vincent Laugel, Christine Tranchant, Rafaëlle Bernard, Frédéric Plewniak, Serge Vicaire, Nicolas Lévy, Jamel Chelly, Jean‐Louis Mandel, Valérie Biancalana, Jocelyn Laporte

    Publicat 2012
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  11. 11
    Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A

    Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A per Suzan Boutary, Marie Caillaud, Mévidette El Madani, Jean‐Michel Vallat, Julien Loisel‐Duwattez, Alice Rouyer, Laurence Richard, Céline Gracia, Giorgia Urbinati, Didier Desmaële, Andoni Echaniz‐Laguna, David Adams, Patrick Couvreur, Michaël Schumacher, Charbel Massaad, Liliane Massaad-Massade

    Publicat 2021
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  12. 12
    Marked increase in severe neurological disorders after nitrous oxide abuse: a retrospective study in the Greater Paris area

    Marked increase in severe neurological disorders after nitrous oxide abuse: a retrospective study in the Greater Paris area per Yachar Dawudi, L. Azoyan, T. de Broucker, Thierry Gendre, Amal Miloudi, Andoni Echaniz‐Laguna, Julie Mazoyer, Adrien Zanin, Nathalie Kubis, Anne‐Laure Dubessy, Lucas Gorza, Haïfa Ben Nasr, Weniko Caré, Thibaut d’Izarny-Gargas, Aude Formoso, A Vîlcu, Mickaël Bonnan

    Publicat 2024
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  13. 13
    Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase

    Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase per Alexandre Henriques, Vincent Croixmarie, David A. Priestman, Angela Rosenbohm, Sylvie Dirrig‐Grosch, Eleonora D’Ambra, Mylene Huebecker, Ghulam Hussain, Claire Boursier-Neyret, Andoni Echaniz‐Laguna, Albert C. Ludolph, Frances M. Platt, Bernard Walther, Michael Spedding, Jean‐Philippe Loeffler, José‐Luis González de Aguilar

    Publicat 2015
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  14. 14
    Anti-MAG antibodies in 202 patients: clinicopathological and therapeutic features

    Anti-MAG antibodies in 202 patients: clinicopathological and therapeutic features per Juliette Svahn, Philippe Petiot, Jean‐Christophe Antoine, Christophe Vial, Émilien Delmont, Karine Viala, Andreas Steck, Armelle Magot, Cécile Cauquil, Aline Zaréa, Andoni Echaniz‐Laguna, Ruxandra Iancu Ferfoglia, Antoine Guéguen, Laurent Magy, Jean‐Marc Léger, Thierry Küntzer, Karine Férraud, Arnaud Lacour, Jean‐Philippe Camdessanché

    Publicat 2017
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  15. 15
    Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations

    Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations per Andoni Echaniz‐Laguna, Thomas Geuens, Philippe Petiot, Yann Péréon, Elias Adriaenssens, Mansour Haidar, Simona Capponi, Thierry Maisonobe, Emmanuel Fournier, O. Dubourg, Bertrand Degos, François Salachas, Timothée Lenglet, B. Eymard, Émilien Delmont, Jean Pouget, Raúl Juntas‐Morales, Cyril Goizet, Philippe Latour, Vincent Timmerman, Tanya Stojkovic

    Publicat 2017
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  16. 16
    CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell–targeted therapies

    CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell–targeted therapies per Marie Le Cann, Françoise Bouhour, Karine Viala, Laurence Simon, Céline Tard, Cédric Rossi, Guillaume Morel, É. Lagrange, Laurent Magy, Alain Créange, Maud Michaud, J. Franques, Andoni Echaniz‐Laguna, Jean‐Christophe Antoine, Marine Baron, Bertrand Arnulf, Angela Puma, Émilien Delmont, Thierry Maisonobe, Véronique Leblond, Damien Roos‐Weil

    Publicat 2020
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  17. 17
    Kidney outcomes in patients with hereditary transthyretin amyloid nephropathy treated with TTR stabilizers and gene-silencer therapies

    Kidney outcomes in patients with hereditary transthyretin amyloid nephropathy treated with TTR stabilizers and gene-silencer therapies per Julien Dang, Justine Solignac, Sophie Ferlicot, Charlotte Mussini, Frank Bridoux, Antoine Huart, Marie Essig, Delphine Campigli, Mickaël Bobot, Laurent Daniel, Thibaud Damy, Violaine Planté‐Bordeneuve, Hamza Sakhi, Céline Labeyrie, Cécile Cauquil, Andoni Echaniz-Laguna, Ilias Kounis, Anissa Moktefi, Perrine Devic, Sarah Mouawad, Albane Brodin-Sartorius, Renaud Snanoudj, Mohamad Zaidan, Noémie Jourde‐Chiche, Vincent Audard

    Publicat 2025
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  18. 18
    Serotonin 2B receptor slows disease progression and prevents degeneration of spinal cord mononuclear phagocytes in amyotrophic lateral sclerosis

    Serotonin 2B receptor slows disease progression and prevents degeneration of spinal cord mononuclear phagocytes in amyotrophic lateral sclerosis per Hajer El Oussini, Hanna Bayer, Jelena Scekic‐Zahirovic, Pauline Vercruysse, Jérôme Sinniger, Sylvie Dirrig‐Grosch, Stéphane Dieterle, Andoni Echaniz‐Laguna, Yves Larmet, Kathrin Müller, Jochen H. Weishaupt, Dietmar Rudolf Thal, Wouter van Rheenen, Kristel van Eijk, Roland Lawson, Laurent Monassier, Luc Maroteaux, Anne Roumier, Philip C. Wong, Leonard H. van den Berg, Albert C. Ludolph, Jan H. Veldink, Anke Witting, Luc Dupuis

    Publicat 2016
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  19. 19
    FSHD1 and FSHD2 form a disease continuum

    FSHD1 and FSHD2 form a disease continuum per Sabrina Sacconi, Audrey Briand‐Suleau, Marilyn Gros, C. Baudoin, Richard J.L.F. Lemmers, Sophie Rondeau, Nadira Lagha, Pilvi Nigumann, Chiara Cambieri, Angela Puma, Françoise Chapon, Tanya Stojkovic, Christophe Vial, Françoise Bouhour, Michelangelo Cao, Elena Pegoraro, Philippe Petiot, Anthony Béhin, Bras Marc, B. Eymard, Andoni Echaniz‐Laguna, Pascal Laforêt, Leonardo Salviati, Marc Jeanpierre, Gaël Cristofari, Silvère M. van der Maarel

    Publicat 2019
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  20. 20
    Hereditary myopathy with early respiratory failure: occurrence in various populations

    Hereditary myopathy with early respiratory failure: occurrence in various populations per Johanna Palmio, Anni Evilä, Françoise Chapon, Giorgio Tasca, Fengqing Xiang, Björn Brådvik, B. Eymard, Andoni Echaniz‐Laguna, Jocelyn Laporte, Mikko Kärppä, I. Mahjneh, Rosaline C. M. Quinlivan, Pascal Laforêt, Maxwell S. Damian, Andrés Berardo, A.L. Taratuto, J. A. Bueri, Johanna Tommiska, Taneli Raivio, Melanie J. Tuerk, Philipp Gölitz, Frédéric Chevessier, Caroline A. Sewry, F. Norwood, Carola Hedberg, Rolf Schröder, Lars Edström, Anders Oldfors, Peter Hackman, Bjarne Udd

    Publicat 2013
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