Works matching AU Echaniz-Laguna, Andoni

Results: 89
    1

    A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.

    Published in:
    2020
    By:
    • Echaniz‐Laguna, Andoni;
    • Lornage, Xavière;
    • Laforêt, Pascal;
    • Orngreen, Mette C.;
    • Edelweiss, Evelina;
    • Brochier, Guy;
    • Bui, Mai T.;
    • Silva‐Rojas, Roberto;
    • Birck, Catherine;
    • Lannes, Béatrice;
    • Romero, Norma B.;
    • Vissing, John;
    • Laporte, Jocelyn;
    • Böhm, Johann;
    • Echaniz-Laguna, Andoni;
    • Silva-Rojas, Roberto
    Publication type:
    journal article
    2

    Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria.

    Published in:
    2018
    By:
    • Robert‐Varvat, Florence;
    • Jousserand, Guillemette;
    • Bouhour, Françoise;
    • Vial, Christophe;
    • Cintas, Pascal;
    • Echaniz‐Laguna, Andoni;
    • Delmont, Emilien;
    • Clavelou, Pierre;
    • Chauplannaz, Guy;
    • Jomir, Laurent;
    • Pereon, Yann;
    • Leonard‐Louis, Sarah;
    • Manel, Veronique;
    • Antoine, Jean‐Christophe;
    • Lacour, Arnaud;
    • Camdessanche, Jean‐Philippe;
    • Robert-Varvat, Florence;
    • Echaniz-Laguna, Andoni;
    • Leonard-Louis, Sarah;
    • Antoine, Jean-Christophe
    Publication type:
    journal article
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    Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. 17, doi. 10.1002/humu.23899
    By:
    • Morin, Gilles;
    • Biancalana, Valérie;
    • Echaniz‐Laguna, Andoni;
    • Noury, Jean‐Baptiste;
    • Lornage, Xavière;
    • Moggio, Maurizio;
    • Ripolone, Michela;
    • Violano, Raffaella;
    • Marcorelles, Pascale;
    • Maréchal, Denis;
    • Renaud, Florence;
    • Maurage, Claude‐Alain;
    • Tard, Céline;
    • Cuisset, Jean‐Marie;
    • Laporte, Jocelyn;
    • Böhm, Johann
    Publication type:
    Article
    7

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

    Published in:
    Human Mutation, 2017, v. 38, n. 5, p. 556, doi. 10.1002/humu.23189
    By:
    • Echaniz‐Laguna, Andoni;
    • Geuens, Thomas;
    • Petiot, Philippe;
    • Péréon, Yann;
    • Adriaenssens, Elias;
    • Haidar, Mansour;
    • Capponi, Simona;
    • Maisonobe, Thierry;
    • Fournier, Emmanuel;
    • Dubourg, Odile;
    • Degos, Bertrand;
    • Salachas, François;
    • Lenglet, Timothée;
    • Eymard, Bruno;
    • Delmont, Emilien;
    • Pouget, Jean;
    • Juntas Morales, Raul;
    • Goizet, Cyril;
    • Latour, Philippe;
    • Timmerman, Vincent
    Publication type:
    Article
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    Next generation sequencing for molecular diagnosis of neuromuscular diseases.

    Published in:
    Acta Neuropathologica, 2012, v. 124, n. 2, p. 273, doi. 10.1007/s00401-012-0982-8
    By:
    • Vasli, Nasim;
    • Böhm, Johann;
    • Gras, Stéphanie;
    • Muller, Jean;
    • Pizot, Cécile;
    • Jost, Bernard;
    • Echaniz-Laguna, Andoni;
    • Laugel, Vincent;
    • Tranchant, Christine;
    • Bernard, Rafaelle;
    • Plewniak, Frédéric;
    • Vicaire, Serge;
    • Levy, Nicolas;
    • Chelly, Jamel;
    • Mandel, Jean-Louis;
    • Biancalana, Valérie;
    • Laporte, Jocelyn
    Publication type:
    Article
    16

    Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

    Published in:
    Acta Neuropathologica, 2011, v. 121, n. 2, p. 253, doi. 10.1007/s00401-010-0754-2
    By:
    • Toussaint, Anne;
    • Cowling, Belinda Simone;
    • Hnia, Karim;
    • Mohr, Michel;
    • Oldfors, Anders;
    • Schwab, Yannick;
    • Yis, Uluc;
    • Maisonobe, Thierry;
    • Stojkovic, Tanya;
    • Wallgren-Pettersson, Carina;
    • Laugel, Vincent;
    • Echaniz-Laguna, Andoni;
    • Mandel, Jean-Louis;
    • Ichizo Nishino;
    • Laporte, Jocelyn
    Publication type:
    Article
    17
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    Blood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral Sclerosis.

    Published in:
    PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131512
    By:
    • Henriques, Alexandre;
    • Blasco, Hélène;
    • Fleury, Marie-Céline;
    • Corcia, Philippe;
    • Echaniz-Laguna, Andoni;
    • Robelin, Laura;
    • Rudolf, Gabrielle;
    • Lequeu, Thiebault;
    • Bergaentzle, Martine;
    • Gachet, Christian;
    • Pradat, Pierre-François;
    • Marchioni, Eric;
    • Andres, Christian R.;
    • Tranchant, Christine;
    • Gonzalez De Aguilar, Jose-Luis;
    • Loeffler, Jean-Philippe
    Publication type:
    Article
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    Neurological complications induced by immune checkpoint inhibitors: a comprehensive descriptive case-series unravelling high risk of long-term sequelae.

    Published in:
    Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab220
    By:
    • Plaçais, Léo;
    • Michot, Jean-Marie;
    • Champiat, Stéphane;
    • Romano-Martin, Patricia;
    • Baldini, Capucine;
    • Joao, Maria Silva;
    • Marabelle, Aurélien;
    • Voisin, Anne-Laure;
    • Not, Adeline;
    • Labeyrie, Céline;
    • Beaudonnet, Guillemette;
    • Laparra, Ariane;
    • Maria, Alexandre T. J.;
    • Masseau, Agathe;
    • Dehette, Stéphanie;
    • Deleporte, Amélie;
    • Echaniz-Laguna, Andoni;
    • Denier, Christian;
    • Adams, David;
    • Lambotte, Olivier
    Publication type:
    Article
    23
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    Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.

    Published in:
    2022
    By:
    • Sanson, Benoît;
    • Stalens, Caroline;
    • Guien, Céline;
    • Villa, Luisa;
    • Eng, Catherine;
    • Rabarimeriarijaona, Sitraka;
    • Bernard, Rafaëlle;
    • Cintas, Pascal;
    • Solé, Guilhem;
    • Tiffreau, Vincent;
    • Echaniz-Laguna, Andoni;
    • Magot, Armelle;
    • Juntas Morales, Raul;
    • Boyer, François Constant;
    • Nadaj-Pakleza, Aleksandra;
    • Jacquin-Piques, Agnès;
    • Béroud, Christophe;
    • Sacconi, Sabrina;
    • The French FSHD registry collaboration group;
    • Acket, Blandine
    Publication type:
    journal article
    25

    Guillain-Barré syndrome after SARS-CoV-2 infection in an international prospective cohort study.

    Published in:
    Brain: A Journal of Neurology, 2021, v. 144, n. 11, p. 3392, doi. 10.1093/brain/awab279
    By:
    • Luijten, Linda W G;
    • Leonhard, Sonja E;
    • Eijk, Annemiek A van der;
    • Doets, Alex Y;
    • Appeltshauser, Luise;
    • Arends, Samuel;
    • Attarian, Shahram;
    • Benedetti, Luana;
    • Briani, Chiara;
    • Casasnovas, Carlos;
    • Castellani, Francesca;
    • Dardiotis, Efthimios;
    • Echaniz-Laguna, Andoni;
    • Garssen, Marcel P J;
    • Harbo, Thomas;
    • Huizinga, Ruth;
    • Humm, Andrea M;
    • Jellema, Korné;
    • Kooi, Anneke J van der;
    • Kuitwaard, Krista
    Publication type:
    Article
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    K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 494, doi. 10.1093/brain/aws348
    By:
    • Mokbel, Nancy;
    • Ilkovski, Biljana;
    • Kreissl, Michaela;
    • Memo, Massimiliano;
    • Jeffries, Cy M.;
    • Marttila, Minttu;
    • Lehtokari, Vilma-Lotta;
    • Lemola, Elina;
    • Grönholm, Mikaela;
    • Yang, Nan;
    • Menard, Dominique;
    • Marcorelles, Pascale;
    • Echaniz-Laguna, Andoni;
    • Reimann, Jens;
    • Vainzof, Mariz;
    • Monnier, Nicole;
    • Ravenscroft, Gianina;
    • McNamara, Elyshia;
    • Nowak, Kristen J.;
    • Laing, Nigel G.
    Publication type:
    Article
    28

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

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 483, doi. 10.1093/brain/aws274
    By:
    • Dentel, Christel;
    • Palamiuc, Lavinia;
    • Henriques, Alexandre;
    • Lannes, Béatrice;
    • Spreux-Varoquaux, Odile;
    • Gutknecht, Lise;
    • René, Frédérique;
    • Echaniz-Laguna, Andoni;
    • Gonzalez de Aguilar, Jose-Luis;
    • Lesch, Klaus Peter;
    • Meininger, Vincent;
    • Loeffler, Jean-Philippe;
    • Dupuis, Luc
    Publication type:
    Article
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    Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0218-1
    By:
    • Salort-Campana, Emmanuelle;
    • Nguyen, Karine;
    • Bernard, Rafaelle;
    • Jouve, Elisabeth;
    • Solé, Guilhem;
    • Nadaj-Pakleza, Aleksandra;
    • Niederhauser, Julien;
    • Charles, Estelle;
    • Ollagnon, Elisabeth;
    • Bouhour, Françoise;
    • Sacconi, Sabrina;
    • Echaniz-Laguna, Andoni;
    • Desnuelle, Claude;
    • Tranchant, Christine;
    • Vial, Christophe;
    • Magdinier, Frederique;
    • Bartoli, Marc;
    • Arne-Bes, Marie-Christine;
    • Ferrer, Xavier;
    • Kuntzer, Thierry
    Publication type:
    Article
    32

    Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 22, doi. 10.1186/s13023-014-0218-1
    By:
    • Salort-Campana, Emmanuelle;
    • Nguyen, Karine;
    • Bernard, Rafaelle;
    • Jouve, Elisabeth;
    • Solé, Guilhem;
    • Nadaj-Pakleza, Aleksandra;
    • Niederhauser, Julien;
    • Charles, Estelle;
    • Ollagnon, Elisabeth;
    • Bouhour, Françoise;
    • Sacconi, Sabrina;
    • Echaniz-Laguna, Andoni;
    • Desnuelle, Claude;
    • Tranchant, Christine;
    • Vial, Christophe;
    • Magdinier, Frederique;
    • Bartoli, Marc;
    • Arne-Bes, Marie-Christine;
    • Ferrer, Xavier;
    • Kuntzer, Thierry
    Publication type:
    Article
    33

    Reply.

    Published in:
    Annals of Neurology, 2007, v. 62, n. 6, p. 677, doi. 10.1002/ana.21282
    By:
    • Pradat, Pierre-François;
    • Gonzalez de Aguilar, Jose-Luis;
    • Bruneteau, Gaelle;
    • Dupuis, Luc;
    • Echaniz-Laguna, Andoni;
    • Loeffler, Jean-Philippe;
    • Meininger, Vincent
    Publication type:
    Article
    34

    Muscle Nogo-a expression is a prognostic marker in lower motor neuron syndromes.

    Published in:
    Annals of Neurology, 2007, v. 62, n. 1, p. 15, doi. 10.1002/ana.21122
    By:
    • Pradat, Pierre-François;
    • Bruneteau, Gaelle;
    • Gonzalez de Aguilar, Jose-Luis;
    • Dupuis, Luc;
    • Jokic, Natasa;
    • Salachas, François;
    • Le Forestier, Nadine;
    • Echaniz-Laguna, Andoni;
    • Dubourg, Odile;
    • Hauw, Jean-Jacques;
    • Tranchant, Christine;
    • Loeffler, Jean-Philippe;
    • Meininger, Vincent
    Publication type:
    Article
    35
    36

    Reply.

    Published in:
    Annals of Neurology, 2003, v. 53, n. 5, p. 687
    By:
    • Andoni Echaniz-Laguna;
    • Joffrey Zoll;
    • Florence Ribera;
    • Christine Tranchant;
    • Jean-Marie Warter;
    • Jean Lonsdorfer;
    • Eliane Lampert
    Publication type:
    Article
    37
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    Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.

    Published in:
    Amyloid, 2024, v. 31, n. 1, p. 62, doi. 10.1080/13506129.2023.2270661
    By:
    • Fargeot, Guillaume;
    • Echaniz-Laguna, Andoni;
    • Labeyrie, Céline;
    • Svahn, Juliette;
    • Camdessanché, Jean-Philippe;
    • Cintas, Pascal;
    • Chanson, Jean-Baptiste;
    • Esselin, Florence;
    • Piedvache, Céline;
    • Verstuyft, Céline;
    • Genestet, Steeve;
    • Lagrange, Emmeline;
    • Magy, Laurent;
    • Péréon, Yann;
    • Sacconi, Sabrina;
    • Signate, Aissatou;
    • Nadaj-Pakleza, Aleksandra;
    • Taithe, Frédéric;
    • Viala, Karine;
    • Tard, Céline
    Publication type:
    Article
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    Regional difference and similarity of familial amyloidosis with polyneuropathy in France.

    Published in:
    Amyloid, 2012, v. 19, p. 61, doi. 10.3109/13506129.2012.685665
    By:
    • Adams, David;
    • Lozeron, Pierre;
    • Theaudin, Marie;
    • Mincheva, Zoia;
    • Cauquil, Cecile;
    • Adam, Clovis;
    • Signate, Aissatou;
    • Vial, Christophe;
    • Maisonobe, Thierry;
    • Delmont, Emilien;
    • Franques, Jerome;
    • Vallat, Jean-Michel;
    • Sole, Guilhem;
    • Pereon, Yann;
    • Lacour, Arnaud;
    • Echaniz-Laguna, Andoni;
    • Misrahi, Micheline;
    • Lacroix, Catherine
    Publication type:
    Article
    41

    Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1219, doi. 10.1002/jimd.12272
    By:
    • Semplicini, Claudio;
    • De Antonio, Marie;
    • Taouagh, Nadjib;
    • Béhin, Anthony;
    • Bouhour, Françoise;
    • Echaniz‐Laguna, Andoni;
    • Magot, Armelle;
    • Nadaj‐Pakleza, Aleksandra;
    • Orlikowski, David;
    • Sacconi, Sabrina;
    • Salort‐Campana, Emmanuelle;
    • Solé, Guilhem;
    • Tard, Céline;
    • Zagnoli, Fabien;
    • Hogrel, Jean‐Yves;
    • Hamroun, Dalil;
    • Laforêt, Pascal
    Publication type:
    Article
    42
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    Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
    By:
    • Semplicini, Claudio;
    • Letard, Pascaline;
    • De Antonio, Marie;
    • Taouagh, Nadjib;
    • Perniconi, Barbara;
    • Bouhour, Françoise;
    • Echaniz‐Laguna, Andoni;
    • Orlikowski, David;
    • Sacconi, Sabrina;
    • Salort‐Campana, Emmanuelle;
    • Solé, Guilhem;
    • Zagnoli, Fabien;
    • Hamroun, Dalil;
    • Froissart, Roseline;
    • Caillaud, Catherine;
    • Laforêt, Pascal;
    • French Pompe Study Group
    Publication type:
    Article
    44

    Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 937, doi. 10.1007/s10545-018-0243-7
    By:
    • Semplicini, Claudio;
    • Letard, Pascaline;
    • De Antonio, Marie;
    • Taouagh, Nadjib;
    • Perniconi, Barbara;
    • Bouhour, Françoise;
    • Echaniz-Laguna, Andoni;
    • Orlikowski, David;
    • Sacconi, Sabrina;
    • Salort-Campana, Emmanuelle;
    • Solé, Guilhem;
    • Zagnoli, Fabien;
    • Hamroun, Dalil;
    • Froissart, Roseline;
    • Caillaud, Catherine;
    • Laforêt, Pascal;
    • French Pompe Study Group
    Publication type:
    Article
    45
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    IgM anti‐MAG<sup>±</sup> peripheral neuropathy (IMAGiNe) study protocol: An international, observational, prospective registry of patients with IgM M‐protein peripheral neuropathies.

    Published in:
    Journal of the Peripheral Nervous System, 2023, v. 28, n. 2, p. 269, doi. 10.1111/jns.12547
    By:
    • Hamadeh, Tatiana;
    • van Doormaal, Perry T. C.;
    • Pruppers, Mariëlle H. J.;
    • van de Mortel, Johannes P. M.;
    • Hoeijmakers, Janneke G. J.;
    • Cornblath, David R.;
    • Vrancken, Alexander F. J. E.;
    • Faber, Catharina G.;
    • Notermans, Nicolette C.;
    • Merkies, Ingemar S. J.;
    • Basta, Ivana;
    • van den Bergh, Peter Y. K.;
    • Bianco, Mariangela;
    • Briani, Chiara;
    • Cauquil, Cécile;
    • Carr, Aisling S.;
    • Cutellè, Claudia;
    • D'Sa, Shirley;
    • Dubuisson, Nicolas;
    • Echaniz‐Laguna, Andoni
    Publication type:
    Article
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    Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia.

    Published in:
    Human Molecular Genetics, 2008, v. 17, n. 20, p. 3166, doi. 10.1093/hmg/ddn213
    By:
    • Stum, Morgane;
    • Girard, Emmanuelle;
    • Bangratz, Marie;
    • Bernard, Véronique;
    • Herbin, Marc;
    • Vignaud, Alban;
    • Ferry, Arnaud;
    • Davoine, Claire-Sophie;
    • Echaniz-Laguna, Andoni;
    • René, Frédérique;
    • Marcel, Christophe;
    • Molgó, Jordi;
    • Fontaine, Bertrand;
    • Krejci, Eric;
    • Nicole, Sophie
    Publication type:
    Article
    50