Works matching AU Martin-Négrier, Marie-Laure

Results: 16

Adult onset tubulo‐interstitial nephropathy in MT‐ND5‐related phenotypes.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 628, doi. 10.1111/cge.13670

By:

Bakis, Hugo;
Trimouille, Aurélien;
Vermorel, Agathe;
Redonnet, Isabelle;
Goizet, Cyril;
Boulestreau, Romain;
Lacombe, Didier;
Combe, Christian;
Martin‐Négrier, Marie‐Laure;
Rigothier, Claire

Publication type:

Article

PSD-95 expression controls L-DOPA dyskinesia through dopamine D1 receptor trafficking.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 3977, doi. 10.1172/JCI59426

By:

Porras, Gregory;
Berthet, Amandine;
Dehay, Benjamin;
Qin Li;
Ladepeche, Laurent;
Normand, Elisabeth;
Dovero, Sandra;
Martinez, Audrey;
Doudnikoff, Evelyne;
Martin-Négrier, Marie-Laure;
Qin Chuan;
Bloch, Bertrand;
Choquet, Daniel;
Boué-Grabot, Eric;
Groc, Laurent;
Bezard, Erwan

Publication type:

Article

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Published in:

Genes, 2021, v. 12, n. 8, p. 1199, doi. 10.3390/genes12081199

By:

Juntas Morales, Raul;
Perrin, Aurélien;
Solé, Guilhem;
Lacourt, Delphine;
Pegeot, Henri;
Walther-Louvier, Ulrike;
Cintas, Pascal;
Cances, Claude;
Espil, Caroline;
Theze, Corinne;
Zenagui, Reda;
Yauy, Kevin;
Cosset, Elodie;
Renard, Dimitri;
Rigau, Valerie;
Maues de Paula, Andre;
Uro-Coste, Emmanuelle;
Arne-Bes, Marie-Christine;
Martin Négrier, Marie-Laure;
Leboucq, Nicolas

Publication type:

Article

Clinical and pathological aspects of toxic myopathies.

Published in:

Journal of Neurology, 2024, v. 271, n. 9, p. 5722, doi. 10.1007/s00415-024-12522-x

By:

Le Quang, Mégane;
Solé, Guilhem;
Martin-Négrier, Marie-Laure;
Mathis, Stéphane

Publication type:

Article

Peripheral neuropathy and livedoid vasculopathy.

Published in:

Journal of Neurology, 2022, v. 269, n. 7, p. 3779, doi. 10.1007/s00415-022-11007-z

By:

Soulages, Antoine;
Maisonobe, Thierry;
Auzou, Pascal;
Petit, Antoine;
Allenbach, Yves;
Barète, Stéphane;
Skopinski, Sophie;
Ribeiro, Emmanuel;
Jullié, Marie-Laure;
Lamant, Laurence;
Brevet, Françoise;
Soulages, Xavier;
Vallat, Jean-Michel;
Martin-Négrier, Marie-Laure;
Solé, Guilhem;
Duval, Fanny;
Carla, Louis;
Le Masson, Gwendal;
Mathis, Stéphane

Publication type:

Article

Neurologic manifestations of giant cell arteritis.

Published in:

2022

By:

Soulages, Antoine;
Sibon, Igor;
Vallat, Jean-Michel;
Ellie, Emmanuel;
Bourdain, Frédéric;
Duval, Fanny;
Carla, Louis;
Martin-Négrier, Marie-Laure;
Solé, Guilhem;
Laurent, Charles;
Monnier, Agnès;
Le Masson, Gwendal;
Mathis, Stéphane

Publication type:

Literature Review

Normal meninges harbor oncogenic somatic mutations in meningioma-driver genes.

Published in:

Acta Neuropathologica, 2023, v. 146, n. 6, p. 833, doi. 10.1007/s00401-023-02635-4

By:

Boetto, Julien;
Plu, Isabelle;
Ducos, Yohan;
Blouin, Antoine;
Teranishi, Yu;
Letournel, Franck;
Martin-Négrier, Marie-Laure;
Faisant, Maxime;
Godfraind, Catherine;
Maurage, Claude-Alain;
Deramecourt, Vincent;
Duchesne, Mathilde;
Meyronnet, David;
Delteil, Clémence;
Rigau, Valérie;
Vandenbos-Burel, Fanny;
Seilhean, Danielle;
Boluda, Susana;
Chiforeanu, Dan Christian;
Marguet, Florent

Publication type:

Article

Human subiculo-fornico-mamillary system in Alzheimer's disease: Tau seeding by the pillar of the fornix.

Published in:

Acta Neuropathologica, 2020, v. 139, n. 3, p. 443, doi. 10.1007/s00401-019-02108-7

By:

Thierry, Manon;
Boluda, Susana;
Delatour, Benoît;
Marty, Serge;
Seilhean, Danielle;
Brainbank Neuro-CEB Neuropathology Network;
Letournel, Franck;
Martin-Négrier, Marie-Laure;
Chapon, Françoise;
Godfraind, Catherine;
Maurage, Claude-Alain;
Deramecourt, Vincent;
Meyronnet, David;
Streichenberger, Nathalie;
de Paula, André Maues;
Rigau, Valérie;
Vandenbos-Burel, Fanny;
Duyckaerts, Charles;
Plu, Isabelle;
Milin, Serge

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

Pathological changes induced by Alzheimer's brain inoculation in amyloid-beta plaque-bearing mice.

Published in:

Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01410-y

By:

Lam, Suzanne;
Hérard, Anne-Sophie;
Boluda, Susana;
Petit, Fanny;
Eddarkaoui, Sabiha;
Cambon, Karine;
The Brainbank Neuro-CEB Neuropathology Network;
Letournel, Franck;
Martin-Négrier, Marie-Laure;
Faisant, Maxime;
Godfraind, Catherine;
Boutonnat, Jean;
Maurage, Claude-Alain;
Deramecourt, Vincent;
Duchesne, Mathilde;
Meyronet, David;
Fenouil, Tanguy;
de Paula, André Mauès;
Rigau, Valérie;
Vandenbos-Burel, Fanny

Publication type:

Article

Transmission of amyloid-beta and tau pathologies is associated with cognitive impairments in a primate.

Published in:

Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01266-8

By:

Lam, Suzanne;
Petit, Fanny;
Hérard, Anne-Sophie;
Boluda, Susana;
Eddarkaoui, Sabiha;
Guillermier, Martine;
The Brain Bank Neuro-C. E. B. Neuropathology Network;
Letournel, Franck;
Martin-Négrier, Marie-Laure;
Faisant, Maxime;
Godfraind, Catherine;
Boutonnat, Jean;
Maurage, Claude-Alain;
Deramecourt, Vincent;
Duchesne, Mathilde;
Meyronet, David;
Fenouil, Tanguy;
de Paula, André Mauès;
Rigau, Valérie;
Vandenbos-Burel, Fanny

Publication type:

Article

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-41

By:

Pierron, Denis;
Rocher, Christophe;
Amati-Bonneau, Patricia;
Reynier, Pascal;
Martin-Négrier, Marie-Laure;
Allouche, Stéphane;
Batandier, Cécile;
de Camaret, Benedicte Mousson;
Godinot, Catherine;
Rotig, Agnes;
Feldmann, Delphine;
Bellanne-Chantelot, Christine;
Arveiler, Benoit;
Pennarun, Erwann;
Rossignol, Rodrigue;
Crouzet, Marc;
Murail, Pascal;
Thoraval, Didier;
Letellier, Thierry

Publication type:

Article

Induction of amyloid-β deposits from serially transmitted, histologically silent, Aβ seeds issued from human brains.

Published in:

Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-01081-7

By:

Hérard, Anne-Sophie;
Petit, Fanny;
Gary, Charlotte;
Guillermier, Martine;
Boluda, Susana;
Garin, Clément M.;
The Brainbank Neuro-CEB Neuropathology Network;
Letournel, Franck;
Martin-Négrier, Marie-Laure;
Faisant, Maxime;
Godfraind, Catherine;
Maurage, Claude-Alain;
Deramecourt, Vincent;
Duchesne, Mathilde;
Meyronnet, David;
de Paula, André Maues;
Rigau, Valérie;
Vandenbos-Burel, Fanny;
Duyckaerts, Charles;
Seilhean, Danielle

Publication type:

Article

The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease.

Published in:

Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00954-1

By:

Ando, Kunie;
Ndjim, Marième;
Turbant, Sabrina;
Fontaine, Gaëlle;
Pregoni, Gustavo;
Dauphinot, Luce;
Yilmaz, Zehra;
Suain, Valérie;
Mansour, Salwa;
Authelet, Michèle;
De Dekker, Robert;
Leroy, Karelle;
Delatour, Benoît;
Brain Bank NeuroCEB Neuropathology Network;
Letournel, Franck;
Martin-Négrier, Marie-Laure;
Chapon, Françoise;
Godfraind, Catherine;
Maurage, Claude-Alain;
Deramecourt, Vincent

Publication type:

Article

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.

Published in:

Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00929-2

By:

Trimouille, Aurélien;
Marguet, Florent;
Sauvestre, Fanny;
Lasseaux, Eulalie;
Pelluard, Fanny;
Martin-Négrier, Marie-Laure;
Plaisant, Claudio;
Rooryck, Caroline;
Lacombe, Didier;
Arveiler, Benoît;
Boespflug-Tanguy, Odile;
Naudion, Sophie;
Laquerrière, Annie

Publication type:

Article

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1118, doi. 10.1002/humu.21542

By:

Goizet, Cyril;
Depienne, Christel;
Benard, Giovanni;
Boukhris, Amir;
Mundwiller, Emeline;
Solé, Guilhem;
Coupry, Isabelle;
Pilliod, Julie;
Martin-Négrier, Marie-Laure;
Fedirko, Estelle;
Forlani, Sylvie;
Cazeneuve, Cécile;
Hannequin, Didier;
Charles, Perrine;
Feki, Imed;
Pinel, Jean-François;
Ouvrard-Hernandez, Anne-Marie;
Lyonnet, Stanislas;
Ollagnon-Roman, Elisabeth;
Yaouanq, Jacqueline

Publication type:

Article