Works by Bernard, Emilien

Results: 24

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort.

Published in:

Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00316

By:

Esselin, Florence;
Mouzat, Kevin;
Polge, Anne;
Juntas-Morales, Raul;
Pageot, Nicolas;
De la Cruz, Elisa;
Bernard, Emilien;
Lagrange, Emmeline;
Danel, Véronique;
Alphandery, Sébastien;
Labar, Laura;
Nogué, Erika;
Picot, Marie-Christine;
Lumbroso, Serge;
Camu, William

Publication type:

Article

Adenovirus COVID‐19 Vaccines and Guillain–Barré Syndrome with Facial Paralysis.

Published in:

Annals of Neurology, 2022, v. 91, n. 1, p. 162, doi. 10.1002/ana.26258

By:

Pegat, Antoine;
Vogrig, Alberto;
Khouri, Charles;
Masmoudi, Kamel;
Vial, Thierry;
Bernard, Emilien

Publication type:

Article

End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.

Published in:

Annals of Neurology, 2021, v. 90, n. 6, p. 962, doi. 10.1002/ana.26242

By:

Aloui, Chaker;
Hervé, Dominique;
Marenne, Gaelle;
Savenier, Florian;
Le Guennec, Kilan;
Bergametti, Francoise;
Verdura, Edgard;
Ludwig, Thomas E.;
Lebenberg, Jessica;
Jabeur, Waliyde;
Morel, Hélène;
Coste, Thibault;
Demarquay, Geneviève;
Bachoumas, Panagiotis;
Cogez, Julien;
Mathey, Guillaume;
Bernard, Emilien;
Chabriat, Hugues;
Génin, Emmanuelle;
Tournier‐Lasserve, Elisabeth

Publication type:

Article

Multiple sclerosis broke my heart.

Published in:

2017

By:

Androdias, Géraldine;
Bernard, Emilien;
Biotti, Damien;
Collongues, Nicolas;
Durand‐Dubief, Françoise;
Pique, Julie;
Sanchez, Ingrid;
Delmas, Clément;
Ninet, Jacques;
Marignier, Romain;
Vukusic, Sandra;
Androdias, Géraldine;
Durand-Dubief, Françoise;
Delmas, Clément

Publication type:

journal article

Development of an automated capillary nano-immunoassay—Simple Western assay—to quantify total TDP43 protein in human platelet samples.

Published in:

Analytical & Bioanalytical Chemistry, 2019, v. 411, n. 1, p. 267, doi. 10.1007/s00216-018-1437-4

By:

Fourier, Anthony;
Escal, Jean;
Bernard, Emilien;
Lachman, Ingolf;
Perret-Liaudet, Armand;
Leblanc, Pascal;
Quadrio, Isabelle

Publication type:

Article

Accuracy of distinguishing between dysembryoplastic neuroepithelial tumors and other epileptogenic brain neoplasms with [11C]methionine PET.

Published in:

Neuro-Oncology, 2014, v. 16, n. 10, p. 1417, doi. 10.1093/neuonc/nou022

By:

Rheims, Sylvain;
Rubi, Sebastià;
Bouvard, Sandrine;
Bernard, Emilien;
Streichenberger, Nathalie;
Guenot, Marc;
Le Bars, Didier;
Hammers, Alexander;
Ryvlin, Philippe

Publication type:

Article

Application of the anti-IgLON5 disease composite score to assess severity, clinical course, and mortality in a French cohort.

Published in:

Journal of Neurology, 2025, v. 272, n. 4, p. 1, doi. 10.1007/s00415-025-13001-7

By:

Farina, Antonio;
Villagrán-García, Macarena;
Abichou-Klich, Amna;
Benaiteau, Marie;
Bernard, Emilien;
Campetella, Lucia;
Cluse, Florent;
Desestret, Virginie;
Dumez, Pauline;
Fabien, Nicole;
Goncalves, David;
Muñiz-Castrillo, Sergio;
Picard, Géraldine;
Pinto, Anne-Laurie;
Rogemond, Véronique;
Vogrig, Alberto;
Joubert, Bastien;
Honnorat, Jérôme

Publication type:

Article

Comparative diagnosis interest of NfL and pNfH in CSF and plasma in a context of FTD–ALS spectrum.

Published in:

Journal of Neurology, 2022, v. 269, n. 3, p. 1522, doi. 10.1007/s00415-021-10714-3

By:

Escal, Jean;
Fourier, Anthony;
Formaglio, Maité;
Zimmer, Luc;
Bernard, Emilien;
Mollion, Hélène;
Bost, Muriel;
Herrmann, Mathieu;
Ollagnon-Roman, Elisabeth;
Quadrio, Isabelle;
Dorey, Jean-Michel

Publication type:

Article

Motor neuron involvement in anti-Ma2-associated paraneoplastic neurological syndrome.

Published in:

Journal of Neurology, 2019, v. 266, n. 2, p. 398, doi. 10.1007/s00415-018-9143-x

By:

Vogrig, Alberto;
Joubert, Bastien;
Maureille, Aurélien;
Thomas, Laure;
Bernard, Emilien;
Streichenberger, Nathalie;
Cotton, Francois;
Ducray, Francois;
Honnorat, Jérome

Publication type:

Article

Thrombolysis for stroke caused by infective endocarditis: an illustrative case and review of the literature.

Published in:

Journal of Neurology, 2013, v. 260, n. 5, p. 1339, doi. 10.1007/s00415-012-6802-1

By:

Ong, Elodie;
Mechtouff, Laura;
Bernard, Emilien;
Cho, Tae-Hee;
Diallo, Lansana;
Nighoghossian, Norbert;
Derex, Laurent

Publication type:

Article

Phosphorylated and aggregated TDP-43 with seeding properties are induced upon mutant Huntingtin (mHtt) polyglutamine expression in human cellular models.

Published in:

Cellular & Molecular Life Sciences, 2019, v. 76, n. 13, p. 2615, doi. 10.1007/s00018-019-03059-8

By:

Coudert, Laurent;
Nonaka, Takashi;
Bernard, Emilien;
Hasegawa, Masato;
Schaeffer, Laurent;
Leblanc, Pascal

Publication type:

Article

Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt–Jakob disease in two patients.

Published in:

2025

By:

Delorme, Cécile;
Pégat, Antoine;
Theuriet, Julian;
Brandel, Jean‐Philippe;
Roze, Emmanuel;
Viala, Karine;
Zyss, Julie;
Thobois, Stéphane;
Fourier, Anthony;
Bernard, Emilien;
Svahn, Juliette;
Laurencin, Chloé;
Jaulent, Paul;
Vandendries, Christophe;
Quadrio, Isabelle;
Desestret, Virginie;
Meyronet, David;
Maisonobe, Thierry;
Haïk, Stéphane;
Seilhean, Danielle

Publication type:

Case Study

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

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis.

Published in:

2024

By:

Bernard, Emilien;
Cluse, Florent;
Bohic, Adrien;
Hermier, Marc;
Raoul, Cédric;
Leblanc, Pascal;
Guissart, Claire

Publication type:

Case Study

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 18, p. 6807, doi. 10.3390/ijms21186807

By:

Bernard, Emilien;
Pegat, Antoine;
Svahn, Juliette;
Bouhour, Françoise;
Leblanc, Pascal;
Millecamps, Stéphanie;
Thobois, Stéphane;
Guissart, Claire;
Lumbroso, Serge;
Mouzat, Kevin

Publication type:

Article

Immunoglobulin light-chain amyloidosis mimicking bulbar amyotrophic lateral sclerosis.

Published in:

Amyloid, 2023, v. 30, n. 3, p. 346, doi. 10.1080/13506129.2022.2163891

By:

Pegat, Antoine;
Bernard, Emilien

Publication type:

Article

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

Published in:

Nature Neuroscience, 2015, v. 18, n. 5, p. 631, doi. 10.1038/nn.4000

By:

Freischmidt, Axel;
Wieland, Thomas;
Richter, Benjamin;
Ruf, Wolfgang;
Schaeffer, Veronique;
Müller, Kathrin;
Marroquin, Nicolai;
Nordin, Frida;
Hübers, Annemarie;
Weydt, Patrick;
Pinto, Susana;
Press, Rayomond;
Millecamps, Stéphanie;
Molko, Nicolas;
Bernard, Emilien;
Desnuelle, Claude;
Soriani, Marie-Hélène;
Dorst, Johannes;
Graf, Elisabeth;
Nordström, Ulrika

Publication type:

Article

Electrophysiological Abnormalities in Finger Extension Weakness and DOwnbeat Nystagmus Motor Neuron Disease: Three New Patients and Review of the Literature.

Published in:

Muscle & Nerve, 2025, v. 71, n. 4, p. 644, doi. 10.1002/mus.28357

By:

Theuriet, Julian;
Bernard, Emilien;
Guy, Nathalie;
Taithe, Frédéric;
Even, Cécilia;
Maisonobe, Thierry;
Sangaré, Aude;
Lardeux, Pierre;
Tilikete, Caroline Froment;
Couratier, Philippe;
Lenglet, Timothée;
Pegat, Antoine

Publication type:

Article

Enhanced secretion of the amyotrophic lateral sclerosis ALS-associated misfolded TDP-43 mediated by the ER-ubiquitin specific peptidase USP19.

Published in:

Cellular & Molecular Life Sciences, 2025, v. 82, n. 1, p. 1, doi. 10.1007/s00018-025-05589-w

By:

Picard, Flavien;
Nonaka, Takashi;
Belotti, Edwige;
Osseni, Alexis;
Errazuriz-Cerda, Elisabeth;
Jost-Mousseau, Coline;
Bernard, Emilien;
Conjard-Duplany, Agnès;
Bohl, Delphine;
Hasegawa, Masato;
Raoul, Cédric;
Galli, Thierry;
Schaeffer, Laurent;
Leblanc, Pascal

Publication type:

Article

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.

Published in:

2021

By:

Theuriet, Julian;
Pegat, Antoine;
Leblanc, Pascal;
Vukusic, Sandra;
Cazeneuve, Cécile;
Millecamps, Stéphanie;
Banneau, Guillaume;
Guillaud-Bataille, Marine;
Bernard, Emilien

Publication type:

Case Study

SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

Published in:

European Journal of Neurology, 2023, v. 30, n. 7, p. 2001, doi. 10.1111/ene.15793

By:

Pons, Nicolas;
Fernández‐Eulate, Gorka;
Pegat, Antoine;
Théaudin, Marie;
Guieu, Régis;
Ripellino, Paolo;
Devedjian, Manon;
Mace, Patrick;
Masingue, Marion;
Léonard‐Louis, Sarah;
Petiot, Philipe;
Roche, Pauline;
Bernard, Emilien;
Bouhour, Françoise;
Good, Jean‐Marc;
Verschueren, Annie;
Grapperon, Aude‐Marie;
Salort, Emmanuelle;
Grosset, Anaïs;
Chanson, Jean‐Baptiste

Publication type:

Article

Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022, v. 23, n. 5/6, p. 473, doi. 10.1080/21678421.2021.1998538

By:

Bernard, Emilien;
Pegat, Antoine;
Vallet, Anne-Evelyne;
Leblanc, Pascal;
Lumbroso, Serge;
Mouzat, Kevin;
Latour, Philippe

Publication type:

Article

Amyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022, v. 23, n. 5/6, p. 470, doi. 10.1080/21678421.2021.1998537

By:

Cluse, Florent;
Bernard, Emilien;
Strubi-Vuillaume, Isabelle;
Devos, David;
Mouzat, Kevin;
Lumbroso, Serge;
Froment Tilikete, Caroline;
Thobois, StÉphane;
Pegat, Antoine

Publication type:

Article

Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.

Published in:

European Neurology, 2019, v. 82, n. 4/6, p. 106, doi. 10.1159/000505777

By:

Pegat, Antoine;
Bouhour, Françoise;
Mouzat, Kevin;
Vial, Christophe;
Pegat, Benoit;
Leblanc, Pascal;
Broussolle, Emmanuel;
Millecamps, Stéphanie;
Lumbroso, Serge;
Bernard, Emilien

Publication type:

Article