Works by Millecamps, Stéphanie

Results: 24

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

Neuron-restrictive silencer elements mediate neuron specificity of adenoviral gene expression.

Published in:

Nature Biotechnology, 1999, v. 17, n. 9, p. 865, doi. 10.1038/12849

By:

Millecamps, Stéphanie;
Kiefer, Hélène;
Navarro, Vincent;
Geoffroy, Marie-Claude;
Robert, Jean-Jacques;
Finiels, Françoise;
Mallet, Jacques;
Barkats, Martine

Publication type:

Article

SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis.

Published in:

JAMA Neurology, 2013, v. 70, n. 11, p. 1403, doi. 10.1001/jamaneurol.2013.3849

By:

Le Ber, Isabelle;
Camuzat, Agnès;
Guerreiro, Rita;
Bouya-Ahmed, Kawtar;
Bras, Jose;
Nicolas, Gael;
Gabelle, Audrey;
Didic, Mira;
De Septenville, Anne;
Millecamps, Stéphanie;
Lenglet, Timothée;
Latouche, Morwena;
Kabashi, Edor;
Campion, Dominique;
Hannequin, Didier;
Hardy, John;
Brice, Alexis

Publication type:

Article

Conditional NF-L Transgene Expression in Mice for In Vivo Analysis of Turnover and Transport Rate of Neurofilaments.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 18, p. 4947, doi. 10.1523/JNEUROSCI.5299-06.2007

By:

Millecamps, Stéphanie;
Gowing, Geneviève;
Corti, Olga;
Mallet, Jacques;
Julien, Jean-Pierre

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

The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 10, p. 5694, doi. 10.3390/ijms23105694

By:

Teyssou, Elisa;
Chartier, Laura;
Roussel, Delphine;
Perera, Nirma D.;
Nemazanyy, Ivan;
Langui, Dominique;
Albert, Mélanie;
Larmonier, Thierry;
Saker, Safaa;
Salachas, François;
Pradat, Pierre-François;
Meininger, Vincent;
Ravassard, Philippe;
Côté, Francine;
Lobsiger, Christian S.;
Boillée, Séverine;
Turner, Bradley J.;
Seilhean, Danielle;
Millecamps, Stéphanie

Publication type:

Article

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

MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights.

Published in:

Journal of Neurology, 2025, v. 272, n. 4, p. 1, doi. 10.1007/s00415-025-13007-1

By:

De Bertier, Sibylle;
Lautrette, Géraldine;
Amador, Maria-del-Mar;
Miki, Tomoko;
Boillée, Séverine;
Lobsiger, Christian Stefan;
Bohl, Delphine;
Darios, Frederic;
Machat, Selma;
Duchesne, Mathilde;
Vourc’h, Patrick;
Fauret-Amsellem, Anne-Laure;
Corcia, Philippe;
Guy, Nathalie;
Couratier, Philippe;
Seilhean, Danielle;
Millecamps, Stéphanie

Publication type:

Article

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2691, doi. 10.1093/hmg/ddn171

By:

Gros-Louis, Francois;
Kriz, Jasna;
Kabashi, Edor;
McDearmid, Jonathan;
Millecamps, Stéphanie;
Urushitani, Makoto;
Lin, Li;
Dion, Patrick;
Zhu, Qinzhang;
Drapeau, Pierre;
Julien, Jean-Pierre;
Rouleau, Guy A.

Publication type:

Article

1‐methyl‐4‐phenylpyridinium neurotoxicity is attenuated by adenoviral gene transfer of human Cu/Zn superoxide dismutase.

Published in:

Journal of Neuroscience Research, 2006, v. 83, n. 2, p. 233, doi. 10.1002/jnr.20696

By:

Martine Barkats;
Philippe Horellou;
Philippe Colin;
Stéphanie Millecamps;
Nicole Faucon‐Biguet;
Jacques Mallet

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

Overexpression of Glutathione Peroxidase Increases the Resistance of Neuronal Cells to Aβ-Mediated Neurotoxicity.

Published in:

Journal of Neurochemistry, 2000, v. 75, n. 4, p. 1438, doi. 10.1046/j.1471-4159.2000.0751438.x

By:

Barkats, Martine;
Millecamps, Stéphanie;
Abrioux, Pascale;
Geoffroy, Marie-Claude;
Mallet, Jacques

Publication type:

Article

Increased prevalence of granulovacuolar degeneration in C9orf72 mutation.

Published in:

Acta Neuropathologica, 2019, v. 138, n. 5, p. 783, doi. 10.1007/s00401-019-02028-6

By:

Riku, Yuichi;
Duyckaerts, Charles;
Boluda, Susana;
Plu, Isabelle;
Le Ber, Isabelle;
Millecamps, Stéphanie;
Salachas, François;
Brainbank NeuroCEB Neuropathology Network;
Letournel, Franck;
Martin-Négrier, Marie-Laure;
Chapon, Françoise;
Godfraind, Catherine;
Maurage, Claude-Alain;
Deramecourt, Vincent;
Meyronet, David;
Streichenberger, Nathalie;
Maues de Paula, André;
Rigau, Valérie;
Vandenbos-Burel, Fanny;
Milin, Serge

Publication type:

Article

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.

Published in:

Acta Neuropathologica, 2013, v. 125, n. 4, p. 511, doi. 10.1007/s00401-013-1090-0

By:

Teyssou, Elisa;
Takeda, Takahiro;
Lebon, Vincent;
Boillée, Séverine;
Doukouré, Brahima;
Bataillon, Guillaume;
Sazdovitch, Véronique;
Cazeneuve, Cécile;
Meininger, Vincent;
LeGuern, Eric;
Salachas, François;
Seilhean, Danielle;
Millecamps, Stéphanie

Publication type:

Article

Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation.

Published in:

2009

By:

Seilhean, Danielle;
Cazeneuve, Cécile;
Thuriès, Valérie;
Russaouen, Odile;
Millecamps, Stéphanie;
Salachas, François;
Meininger, Vincent;
LeGuern, Eric;
Duyckaerts, Charles

Publication type:

Report

Axonal transport deficits and neurodegenerative diseases.

Published in:

Nature Reviews Neuroscience, 2013, v. 14, n. 3, p. 161, doi. 10.1038/nrn3380

By:

Millecamps, Stéphanie;
Julien, Jean-Pierre

Publication type:

Article

FUS Mutations in Frontotemporal Lobar Degeneration with Amyotrophic Lateral Sclerosis.

Published in:

Journal of Alzheimer's Disease, 2010, v. 22, n. 3, p. 765, doi. 10.3233/jad-2010-100837

By:

Broustal, Oriane;
Camuzat, Agnès;
Guillot-Noël, Lena;
Guy, Nathalie;
Millecamps, Stéphanie;
Deffond, Didier;
Lacomblez, Lucette;
Golfier, Véronique;
Hannequin, Didier;
Salachas, François;
Camu, William;
Didic, Mira;
Dubois, Bruno;
Meininger, Vincent;
Le Ber, Isabelle;
Brice, Alexis

Publication type:

Article

Oxidation of SQSTM1/p62 mediates the link between redox state and protein homeostasis.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02746-z

By:

Carroll, Bernadette;
Otten, Elsje G.;
Manni, Diego;
Stefanatos, Rhoda;
Menzies, Fiona M.;
Smith, Graham R.;
Jurk, Diana;
Kenneth, Niall;
Wilkinson, Simon;
Passos, Joao F.;
Attems, Johannes;
Veal, Elizabeth A.;
Teyssou, Elisa;
Seilhean, Danielle;
Millecamps, Stéphanie;
Eskelinen, Eeva-Liisa;
Bronowska, Agnieszka K.;
Rubinsztein, David C.;
Sanz, Alberto;
Korolchuk, Viktor I.

Publication type:

Article

Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3624, doi. 10.1093/brain/awad228

By:

Bodin, Alexia;
Greibill, Logan;
Gouju, Julien;
Letournel, Franck;
Pozzi, Silvia;
Julien, Jean-Pierre;
Renaud, Laurence;
Bohl, Delphine;
Millecamps, Stéphanie;
Verny, Christophe;
Cassereau, Julien;
Lenaers, Guy;
Chevrollier, Arnaud;
Tassin, Anne-Marie;
Codron, Philippe

Publication type:

Article

System xC- is a mediator of microglial function and its deletion slows symptoms in amyotrophic lateral sclerosis mice.

Published in:

2015

By:

Mesci, Pinar;
Zaïdi, Sakina;
Lobsiger, Christian S;
Millecamps, Stéphanie;
Escartin, Carole;
Seilhean, Danielle;
Sato, Hideyo;
Mallat, Michel;
Boillée, Séverine

Publication type:

journal article

System xC− is a mediator of microglial function and its deletion slows symptoms in amyotrophic lateral sclerosis mice.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 1, p. 53, doi. 10.1093/brain/awu312

By:

Mesci, Pinar;
Zaïdi, Sakina;
Lobsiger, Christian S.;
Millecamps, Stéphanie;
Escartin, Carole;
Seilhean, Danielle;
Sato, Hideyo;
Mallat, Michel;
Boillée, Séverine

Publication type:

Article

Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin.

Published in:

Journal of Neurochemistry, 2006, v. 98, n. 3, p. 926, doi. 10.1111/j.1471-4159.2006.03932.x

By:

Millecamps, Stéphanie;
Robertson, Janice;
Lariviere, Roxanne;
Mallet, Jacques;
Julien, Jean-Pierre

Publication type:

Article

Fronto-temporal lobar degeneration: neuropathology in 60 cases.

Published in:

Journal of Neural Transmission, 2011, v. 118, n. 5, p. 753, doi. 10.1007/s00702-011-0649-y

By:

Seilhean, Danielle;
Ber, Isabelle;
Sarazin, Marie;
Lacomblez, Lucette;
Millecamps, Stéphanie;
Salachas, François;
Pradat, Pierre-François;
Forestier, Nadine;
LeGuern, Eric;
Dubois, Bruno;
Meininger, Vincent;
Brice, Alexis;
Hauw, Jean-Jacques;
Duyckaerts, Charles

Publication type:

Article

Neurofilament accumulations in amyotrophic lateral sclerosis patients’ motor neurons impair axonal initial segment integrity.

Published in:

Cellular & Molecular Life Sciences, 2023, v. 80, n. 6, p. 1, doi. 10.1007/s00018-023-04797-6

By:

Lefebvre-Omar, Cynthia;
Liu, Elise;
Dalle, Carine;
d’Incamps, Boris Lamotte;
Bigou, Stéphanie;
Daube, Clément;
Karpf, Léa;
Davenne, Marc;
Robil, Noémie;
Jost Mousseau, Coline;
Blanchard, Stéphane;
Tournaire, Guillaume;
Nicaise, Charles;
Salachas, François;
Lacomblez, Lucette;
Seilhean, Danielle;
Lobsiger, Christian S.;
Millecamps, Stéphanie;
Boillée, Séverine;
Bohl, Delphine

Publication type:

Article