Works by Echaniz-Laguna, Andoni

Results: 89

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

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

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

Charcot-Marie-Tooth Disease Type 2A From Typical to Rare Phenotypic and Genotypic Features.

Published in:

JAMA Neurology, 2014, v. 71, n. 8, p. 1036, doi. 10.1001/jamaneurol.2014.629

By:

Bombelli, Francesco;
Stojkovic, Tanya;
Dubourg, Odile;
Echaniz-Laguna, Andoni;
Tardieu, Sandrine;
Larcher, Kathy;
Amati-Bonneau, Patrizia;
Latour, Philippe;
Vignal, Odile;
Cazeneuve, Cécile;
Brice, Alexis;
Leguern, Eric

Publication type:

Article

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

Published in:

European Heart Journal, 2012, v. 33, n. 11, p. 1397, doi. 10.1093/eurheartj/ehr224

By:

Bouitbir, Jamal;
Charles, Anne-Laure;
Echaniz-Laguna, Andoni;
Kindo, Michel;
Daussin, Frédéric;
Auwerx, Johan;
Piquard, François;
Geny, Bernard;
Zoll, Joffrey

Publication type:

Article

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

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

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

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 803, doi. 10.1002/jimd.12087

By:

Echaniz‐Laguna, Andoni;
Nadjar, Yann;
Béhin, Anthony;
Biancalana, Valérie;
Piraud, Monique;
Malfatti, Edoardo;
Laforêt, Pascal

Publication type:

Article

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

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

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

IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis.

Published in:

Acta Neuropathologica, 2017, v. 134, n. 4, p. 655, doi. 10.1007/s00401-017-1731-9

By:

Meyer, Alain;
Laverny, Gilles;
Allenbach, Yves;
Grelet, Elise;
Ueberschlag, Vanessa;
Echaniz-Laguna, Andoni;
Lannes, Béatrice;
Alsaleh, Ghada;
Charles, Anne;
Singh, François;
Zoll, Joffrey;
Lonsdorfer, Evelyne;
Maurier, François;
Boyer, Olivier;
Gottenberg, Jacques-Eric;
Nicot, Anne;
Laporte, Jocelyn;
Benveniste, Olivier;
Metzger, Daniel;
Sibilia, Jean

Publication type:

Article

HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

Published in:

Acta Neuropathologica, 2017, v. 134, n. 1, p. 163, doi. 10.1007/s00401-017-1724-8

By:

Echaniz-Laguna, Andoni;
Lornage, Xavière;
Lannes, Béatrice;
Schneider, Raphaël;
Bierry, Guillaume;
Dondaine, Nicolas;
Boland, Anne;
Deleuze, Jean-François;
Böhm, Johann;
Thompson, Julie;
Laporte, Jocelyn;
Biancalana, Valérie

Publication type:

Article

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

Published in:

EMBO Molecular Medicine, 2015, v. 7, n. 5, p. 526, doi. 10.15252/emmm.201404433

By:

Palamiuc, Lavinia;
Schlagowski, Anna;
Ngo, Shyuan T;
Vernay, Aurelia;
Dirrig‐Grosch, Sylvie;
Henriques, Alexandre;
Boutillier, Anne‐Laurence;
Zoll, Joffrey;
Echaniz‐Laguna, Andoni;
Loeffler, Jean‐Philippe;
René, Frédérique

Publication type:

Article

A Rare Mimic of Hereditary Hemorrhagic Telangiectasia and Conjunctivitis.

Published in:

Annals of Internal Medicine, 2007, v. 146, n. 2, p. 150, doi. 10.7326/0003-4819-146-2-200701160-00018

By:

Blanc, Frederic;
Fleury, Marie;
Echaniz-Laguna, Andoni;
Giraud, Sophie;
Szwarcberg, Jerome;
Tranchant, Christine

Publication type:

Article

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

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

Nogo expression in muscle correlates with amyotrophic lateral sclerosis severity.

Published in:

Annals of Neurology, 2005, v. 57, n. 4, p. 553

By:

Natasa Jokic;
Jose‐Luis Gonzalez de Aguilar;
Pierre‐François Pradat;
Luc Dupuis;
Andoni Echaniz‐Laguna;
André Muller;
Odile Dubourg;
Danielle Seilhean;
Jean‐Jacques Hauw;
Jean‐Philippe Loeffler;
Vincent Meininger

Publication type:

Article

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

Mitochondrial respiratory chain function in skeletal muscle of ALS patients.

Published in:

Annals of Neurology, 2002, v. 52, n. 5, p. 623, doi. 10.1002/ana.10357

By:

Echaniz-Laguna, Andoni;
Zoll, Joffrey;
Ribera, Florence;
Tranchant, Christine;
Warter, Jean-Marie;
Lonsdorfer, Jean;
Lampert, Eliane

Publication type:

Article

Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron disease.

Published in:

Journal of Neurology, 2002, v. 249, n. 3, p. 290, doi. 10.1007/s004150200007

By:

Echaniz-Laguna, Andoni;
Guiraud-Chaumeil, Christophe;
Tranchant, Christine;
Reeber, André;
Melki, Judith;
Warter, Jean-Marie

Publication type:

Article

The Miller Fisher syndrome: neurophysiological and MRI evidence of both peripheral and central origin in one case.

Published in:

Journal of Neurology, 2000, v. 247, n. 12, p. 980, doi. 10.1007/s004150070061

By:

Echaniz-Laguna, Andoni;
Battaglia, Fabrice;
Heymann, Ronny;
Tranchant, Christine;
Warter, Jean-Marie

Publication type:

Article

Minimal invasive biopsies are highly sensitive for amyloid detection in hereditary transthyretin amyloidosis with polyneuropathy.

Published in:

Journal of the Peripheral Nervous System, 2025, v. 30, n. 1, p. 1, doi. 10.1111/jns.12680

By:

Leonardi, Luca;
Adam, Clovis;
Beaudonnet, Guillemette;
Beauvais, Diane;
Cauquil, Cécile;
Not, Adeline;
Morassi, Olivier;
Trassard, Olivier;
Echaniz‐Laguna, Andoni;
Adams, David;
Labeyrie, Céline

Publication type:

Article

EGR2 gene‐linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Published in:

Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 359, doi. 10.1111/jns.12572

By:

Echaniz‐Laguna, Andoni;
Cauquil, Cécile;
Chanson, Jean‐Baptiste;
Tard, Céline;
Guyant‐Marechal, Lucie;
Kuntzer, Thierry;
Ion, Ioana Maria;
Lia, Anne‐Sophie;
Bouligand, Jérôme;
Poinsignon, Vianney

Publication type:

Article

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

Successful autologous haematopoietic stem cell transplantation in a refractory anti‐myelin‐associated glycoprotein antibody neuropathy.

Published in:

British Journal of Haematology, 2025, v. 206, n. 3, p. 996, doi. 10.1111/bjh.19969

By:

Urbain, Fanny;
Labeyrie, Céline;
Castilla‐Llorente, Cristina;
Noel, Nicolas;
Farge, Dominique;
Echaniz‐Laguna, Andoni

Publication type:

Article

A cryptic splicing mutation in the INF2 gene causing Charcot‐Marie‐Tooth disease with minimal glomerular dysfunction.

Published in:

Journal of the Peripheral Nervous System, 2019, v. 24, n. 1, p. 120, doi. 10.1111/jns.12308

By:

Echaniz‐Laguna, Andoni;
Latour, Philippe

Publication type:

Article

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

Published in:

Journal of the Peripheral Nervous System, 2016, v. 21, n. 4, p. 365, doi. 10.1111/jns.12192

By:

Codron, Philippe;
Chevrollier, Arnaud;
Kane, Mariame S.;
Echaniz‐Laguna, Andoni;
Latour, Philippe;
Reynier, Pascal;
Bonneau, Dominique;
Verny, Christophe;
Procaccio, Vincent;
Lenaers, Guy;
Cassereau, Julien

Publication type:

Article

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 1, p. 112, doi. 10.1111/j.1529-8027.2012.00382.x

By:

Yger, Marion;
Stojkovic, Tanya;
Tardieu, Sandrine;
Maisonobe, Thierry;
Brice, Alexis;
Echaniz-Laguna, Andoni;
Alembik, Yves;
Girard, Samantha;
Cazeneuve, Cécile;
LeGuern, Eric;
Dubourg, Odile

Publication type:

Article

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.

Published in:

2017

By:

Adriaenssens, Elias;
Geuens, Thomas;
Baets, Jonathan;
Echaniz-Laguna, Andoni;
Timmerman, Vincent

Publication type:

journal article

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

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

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).

Published in:

Journal of Neurology, 2024, v. 271, n. 9, p. 5778, doi. 10.1007/s00415-024-12538-3

By:

Attarian, Shahram;
Beloribi-Djefaflia, Sadia;
Bernard, Rafaelle;
Nguyen, Karine;
Cances, Claude;
Gavazza, Carole;
Echaniz-Laguna, Andoni;
Espil, Caroline;
Evangelista, Teresinha;
Feasson, Léonard;
Audic, Frédérique;
Zagorda, Berenice;
Milhe De Bovis, Virginie;
Stojkovic, Tanya;
Sole, Guilhem;
Salort-Campana, Emmanuelle;
Sacconi, Sabrina

Publication type:

Article

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

Published in:

Journal of Neurology, 2024, v. 271, n. 6, p. 3340, doi. 10.1007/s00415-024-12264-w

By:

Dawudi, Yachar;
Azoyan, Loris;
Broucker, Thomas D. E.;
Gendre, Thierry;
Miloudi, Amal;
Echaniz-Laguna, Andoni;
Mazoyer, Julie;
Zanin, Adrien;
Kubis, Nathalie;
Dubessy, Anne-Laure;
Gorza, Lucas;
Ben Nasr, Haifa;
Caré, Weniko;
d'Izarny-Gargas, Thibaut;
Formoso, Aude;
Vilcu, Ana-Maria;
Bonnan, Mickael

Publication type:

Article

Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study.

Published in:

Journal of Neurology, 2023, v. 270, n. 12, p. 5819, doi. 10.1007/s00415-023-11925-6

By:

Chanson, Jean-Baptiste;
Bouhour, Françoise;
Aubé-Nathier, Anne-Catherine;
Mallaret, Martial;
Vial, Christophe;
Hacquard, Aurélien;
Petiot, Philippe;
Spinazzi, Marco;
Nadaj-Pakleza, Aleksandra;
Echaniz-Laguna, Andoni

Publication type:

Article

Clinical features and maternal and fetal outcomes in women with Guillain-Barré syndrome in pregnancy.

Published in:

Journal of Neurology, 2023, v. 270, n. 9, p. 4498, doi. 10.1007/s00415-023-11808-w

By:

Krief, Nolwenn;
Gabriel, René;
Cauquil, Cécile;
Adams, David;
Fargeot, Guillaume;
Maisonobe, Thierry;
Osman, David;
Schmidt, Matthieu;
Chanson, Jean-Baptiste;
Bigaut, Kevin;
Sole, Guilhem;
Tard, Céline;
Nicolas, Guillaume;
Pereon, Yann;
Aure, Karine;
Lagrange, Emmeline;
Lefilliatre, Mathilde;
Labeyrie, Marc-Antoine;
Echaniz-Laguna, Andoni

Publication type:

Article

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.

Published in:

Journal of Neurology, 2021, v. 268, n. 9, p. 3337, doi. 10.1007/s00415-021-10499-5

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

Publication type:

Article

Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera.

Published in:

Journal of Neurology, 2020, v. 267, n. 12, p. 3664, doi. 10.1007/s00415-020-10041-z

By:

Delmont, Emilien;
Brodovitch, Alexandre;
Kouton, Ludivine;
Allou, Thibaut;
Beltran, Stéphane;
Brisset, Marion;
Camdessanché, Jean Philippe;
Cauquil, Cécile;
Cirion, Jonathan;
Dubard, Thierry;
Echaniz-Laguna, Andoni;
Grapperon, Aude-Marie;
Jauffret, Joëlle;
Juntas-Morales, Raul;
Kremer, Laurent Daniel;
Kuntzer, Thierry;
Labeyrie, Céline;
Lanfranco, Lucas;
Maisonobe, Thierry;
Mavroudakis, Nicolas

Publication type:

Article

Dalfampridine in hereditary spastic paraplegia: a prospective, open study.

Published in:

Journal of Neurology, 2015, v. 262, n. 5, p. 1285, doi. 10.1007/s00415-015-7707-6

By:

Béreau, Matthieu;
Anheim, Mathieu;
Chanson, Jean-Baptiste;
Tio, Grégory;
Echaniz-Laguna, Andoni;
Depienne, Christel;
Collongues, Nicolas;
Sèze, Jérôme

Publication type:

Article

Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice.

Published in:

Journal of Neurology, 2015, v. 262, n. 2, p. 435, doi. 10.1007/s00415-014-7557-7

By:

Renaud, Mathilde;
Perriard, Julien;
Coudray, Sarah;
Sévin-Allouet, Mathieu;
Marcel, Christophe;
Meissner, Wassilios;
Chanson, Jean-Baptiste;
Collongues, Nicolas;
Philippi, Nathalie;
Gebus, Odile;
Quenardelle, Véronique;
Castrioto, Anna;
Krack, Paul;
N'Guyen, Karine;
Lefebvre, François;
Echaniz-Laguna, Andoni;
Azulay, Jean-Philippe;
Meyer, Nicolas;
Labauge, Pierre;
Tranchant, Christine

Publication type:

Article

Pompe disease presenting as an isolated generalized dilative arteriopathy with repeated brain and kidney infarcts.

Published in:

2015

By:

Quenardelle, Véronique;
Bataillard, Marc;
Bazin, Dorothée;
Lannes, Béatrice;
Wolff, Valérie;
Echaniz-Laguna, Andoni

Publication type:

Letter

Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS).

Published in:

2015

By:

Chanson, Jean-Baptiste;
Boehm, Nelly;
Samama, Brigitte;
Echaniz-Laguna, Andoni;
Anheim, Mathieu

Publication type:

Letter

Testing the validity of a set of diagnostic criteria for sensory neuronopathies: a francophone collaborative study.

Published in:

Journal of Neurology, 2014, v. 261, n. 11, p. 2093, doi. 10.1007/s00415-014-7423-7

By:

Antoine, Jean-Christophe;
Robert-Varvat, Florence;
Maisonobe, Thierry;
Créange, Alain;
Franques, Jérôme;
Mathis, Stéphane;
Delmont, Emilien;
Kuntzer, Thierry;
Lefaucheur, Jean-Pascal;
Pouget, Jean;
Viala, Karine;
Desnuelle, Claude;
Echaniz-Laguna, Andoni;
Rotolo, Francesco;
Camdessanché, Jean-Philippe

Publication type:

Article

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

TDP43-Positive Intraneuronal Inclusions in a Patient with Motor Neuron Disease and Parkinson’s Disease.

Published in:

Neurodegenerative Diseases, 2010, v. 7, n. 4, p. 260, doi. 10.1159/000273591

By:

Chanson, Jean-Baptiste;
Echaniz-Laguna, Andoni;
Vogel, Thomas;
Mohr, Michel;
Benoilid, Aurélien;
Kaltenbach, Georges;
Kiesmann, Michèle

Publication type:

Article

Diffusion-weighted MRI of denervated muscle: a clinical and experimental study.

Published in:

Skeletal Radiology, 2008, v. 37, n. 12, p. 1111, doi. 10.1007/s00256-008-0552-2

By:

Nathalie Holl;
Andoni Echaniz-Laguna;
Guillaume Bierry;
Michel Mohr;
Jean-Philippe Loeffler;
Thomas Moser;
Jean-Louis Dietemann;

Publication type:

Article

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

Published in:

Acta Neuropathologica, 2016, v. 131, n. 3, p. 465, doi. 10.1007/s00401-016-1534-4

By:

El Oussini, Hajer;
Scekic-Zahirovic, Jelena;
Vercruysse, Pauline;
Sinniger, Jérôme;
Dirrig-Grosch, Sylvie;
Dieterlé, Stéphane;
Echaniz-Laguna, Andoni;
Larmet, Yves;
Thal, Dietmar;
Lawson, Roland;
Monassier, Laurent;
Maroteaux, Luc;
Roumier, Anne;
Dupuis, Luc;
Bayer, Hanna;
Müller, Kathrin;
Weishaupt, Jochen;
Ludolph, Albert;
Witting, Anke;
van Rheenen, Wouter

Publication type:

Article

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

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