Works by Echaniz-Laguna, Andoni

Results: 89

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

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

Red Flags for Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with Sarcoidosis or Connective Tissue Diseases.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 9, p. 3281, doi. 10.3390/jcm12093281

By:

Vialatte de Pémille, Clément;
Noël, Nicolas;
Adam, Clovis;
Labeyrie, Céline;
Not, Adeline;
Beaudonnet, Guillemette;
Echaniz-Laguna, Andoni;
Adams, David;
Cauquil, Cécile

Publication type:

Article

Asthma as a Cause of Persistent Dyspnea in Treated Myasthenia Gravis Patients.

Published in:

European Neurology, 2012, v. 68, n. 5, p. 300, doi. 10.1159/000341834

By:

Echaniz-Laguna, Andoni;
Pistea, Cristina;
Philippi, Nathalie;
Enache, Irina;
Oswald-Mammosser, Monique;
De Sèze, Jérome;
Charloux, Anne

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

The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.

Published in:

2020

By:

Pradat, Pierre-François;
Bernard, Emilien;
Corcia, Philippe;
Couratier, Philippe;
Jublanc, Christel;
Querin, Giorgia;
Morélot Panzini, Capucine;
Salachas, François;
Vial, Christophe;
Wahbi, Karim;
Bede, Peter;
Desnuelle, Claude;
on behalf of the French Kennedy's Disease Writing Group;
Le Forestier, Nadine;
Echaniz-Laguna, Andoni;
Sorarù, Gianni;
Perez, Thierry;
Ramos, Cédric;
Goizet, Cyril;
Desport, Jean Claude

Publication type:

journal article

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

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01839-2

By:

Boutary, Suzan;
Caillaud, Marie;
El Madani, Mévidette;
Vallat, Jean-Michel;
Loisel-Duwattez, Julien;
Rouyer, Alice;
Richard, Laurence;
Gracia, Céline;
Urbinati, Giorgia;
Desmaële, Didier;
Echaniz-Laguna, Andoni;
Adams, David;
Couvreur, Patrick;
Schumacher, Michael;
Massaad, Charbel;
Massaad-Massade, Liliane

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

Sodium Valproate Exerts Neuroprotective Effects In Vivo through CREB-Binding Protein-Dependent Mechanisms But Does Not Improve Survival in an Amyotrophic Lateral Sclerosis Mouse Model.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 21, p. 5535, doi. 10.1523/JNEUROSCI.1139-07.2007

By:

Rouaux, Caroline;
Panteleeva, Irina;
René, Frédérique;
de Aguilar, Jose-Luis Gonzales;
Echaniz-Laguna, Andoni;
Dupuis, Luc;
Menger, Yannick;
Boutillier, Anne-Laurence;
Loefler, Jean-Philippe

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

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

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 variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

Published in:

2018

By:

Chéraud, Chrystel;
Froissart, Roseline;
Lannes, Béatrice;
Echaniz‐Laguna, Andoni

Publication type:

journal article

Electromyography and muscle biopsy in chronic isolated Myalgia: A prospective study.

Published in:

2016

By:

Echaniz‐Laguna, Andoni;
Chanson, Jean‐Baptiste

Publication type:

journal article

SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france.

Published in:

Muscle & Nerve, 2015, v. 51, n. 6, p. 884, doi. 10.1002/mus.24653

By:

Echaniz‐Laguna, Andoni;
Carlier, Robert‐Yves;
Laloui, Kenza;
Carlier, Pierre;
Salort‐Campana, Emmanuelle;
Pouget, Jean;
Laforet, Pascal

Publication type:

Article

The Hexokinase 1 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4364, doi. 10.3390/ijms25084364

By:

Ceprian, Maria;
Juntas-Morales, Raul;
Campbell, Graham;
Walther-Louvier, Ulrike;
Rivier, François;
Camu, William;
Esselin, Florence;
Echaniz-Laguna, Andoni;
Stojkovic, Tanya;
Bouhour, Françoise;
Latour, Philippe;
Tricaud, Nicolas

Publication type:

Article

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2221, doi. 10.3390/ijms21062221

By:

Salort-Campana, Emmanuelle;
Fatehi, Farzad;
Beloribi-Djefaflia, Sadia;
Roche, Stéphane;
Nguyen, Karine;
Bernard, Rafaelle;
Cintas, Pascal;
Solé, Guilhem;
Bouhour, Françoise;
Ollagnon, Elisabeth;
Sacconi, Sabrina;
Echaniz-Laguna, Andoni;
Kuntzer, Thierry;
Levy, Nicolas;
Magdinier, Frédérique;
Attarian, Shahram

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

Ability of pulmonary function decline to predict death in amyotrophic lateral sclerosis patients.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017, v. 18, n. 7/8, p. 511, doi. 10.1080/21678421.2017.1353097

By:

Enache, Irina;
Pistea, Cristina;
Fleury, Marie;
Schaeffer, Mickael;
Oswald-Mammosser, Monique;
Echaniz-Laguna, Andoni;
Tranchant, Christine;
Meyer, Nicolas;
Charloux, Anne

Publication type:

Article

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

Factors Distinguishing Nonsystemic Versus Systemic Vasculitic Peripheral Neuropathy: A Retrospective Cohort Study.

Published in:

European Journal of Neurology, 2025, v. 32, n. 4, p. 1, doi. 10.1111/ene.70150

By:

Berling, Edouard;
Maisonobe, Thierry;
Morassi, Olivier;
Echaniz‐Laguna, Andoni;
Denier, Christian;
Le Guillou, Adrien;
Duschene, Mathilde;
Labeyrie, Céline;
Adam, Clovis

Publication type:

Article

TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.

Published in:

European Journal of Neurology, 2025, v. 32, n. 4, p. 1, doi. 10.1111/ene.70104

By:

Ait Tayeb, Abd El Kader;
Chazelas, Pauline;
Poinsignon, Vianney;
Adams, David;
Berthot, Caroline;
Cauquil, Cécile;
Dhaenens, Claire‐Marie;
Francou, Bruno;
Jedraszak, Guillaume;
Labeyrie, Céline;
Redondo, Clara Laffitte;
Lia, Anne‐Sophie;
Lopez, Maureen;
Proust, Alexis;
Sturtz, Franck;
Tosca, Lucie;
Verstuyft, Céline;
Echaniz‐Laguna, Andoni;
Bouligand, Jérôme

Publication type:

Article

Tracking myasthenia gravis severity over time: Insights from the French health insurance claims database.

Published in:

European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.16518

By:

Attarian, Shahram;
Camdessanché, Jean‐Philippe;
Echaniz‐Laguna, Andoni;
Ciumas, Mariana;
Blein, Cécile;
Grenier, Benjamin;
Solé, Guilhem

Publication type:

Article

Phenotype–genotype correlation in X‐linked Charcot‐Marie‐Tooth disease: A French cohort study.

Published in:

European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.16523

By:

Barbat du Closel, Luce;
Bonello‐Palot, Nathalie;
Delmont, Emilien;
Péréon, Yann;
Echaniz‐Laguna, Andoni;
Camdessanché, Jean Philippe;
Pakleza, Aleksandra Nadaj;
Chanson, Jean‐Baptiste;
Frachet, Simon;
Magy, Laurent;
Cassereau, Julien;
Cintas, Pascal;
Choumert, Ariane;
Devic, Perrine;
Louis, Sarah Léonard;
Tard, Céline;
Solé, Guilhem;
Salort‐Campana, Emmanuelle;
Bouhour, Françoise;
Latour, Philippe

Publication type:

Article

Nonamyloidogenic TTR gene variants c.76G>A and c.337‐18G>C are not associated with idiopathic small‐fiber neuropathy.

Published in:

European Journal of Neurology, 2024, v. 31, n. 12, p. 1, doi. 10.1111/ene.16461

By:

Konecki, Céline;
Francou, Bruno;
Chappell, Kenneth;
Augey, Lucie;
Beaudonnet, Guillemette;
Cauquil, Cécile;
Dimitri‐Boulos, Dalia;
Not, Adeline;
Adam, Clovis;
Poinsignon, Vianney;
Verstuyft, Céline;
Adams, David;
Echaniz‐Laguna, Andoni;
Labeyrie, Céline

Publication type:

Article

Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.

Published in:

European Journal of Neurology, 2023, v. 30, n. 10, p. 3265, doi. 10.1111/ene.15937

By:

Barbat du Closel, Luce;
Bonello‐Palot, Nathalie;
Péréon, Yann;
Echaniz‐Laguna, Andoni;
Camdessanche, Jean Philippe;
Nadaj‐Pakleza, Aleksandra;
Chanson, Jean‐Baptiste;
Frachet, Simon;
Magy, Laurent;
Cassereau, Julien;
Cintas, Pascal;
Choumert, Ariane;
Devic, Perrine;
Leonard Louis, Sarah;
Gravier Dumonceau, Robinson;
Delmont, Emilien;
Salort‐Campana, Emmanuelle;
Bouhour, Françoise;
Latour, Philippe;
Stojkovic, Tanya

Publication type:

Article

Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis.

Published in:

European Journal of Neurology, 2022, v. 29, n. 5, p. 1477, doi. 10.1111/ene.15268

By:

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

Publication type:

Article

Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy.

Published in:

European Journal of Neurology, 2021, v. 28, n. 9, p. 2913, doi. 10.1111/ene.14948

By:

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Reply.

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