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Hippocampal sclerosis dementia
Published in:
2010
By:
- Blanc, Frederic;
- Blanc, Denis;
- Michel, Jean-Marc;
- Noblet-Dick, Marie;
- Lannes, Béatrice;
- Sellal, François
Publication type:
Abstract
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
Sp3 and Sp4 Transcription Factor Levels Are Increased in Brains of Patients with Alzheimer’s Disease.
Published in:
Neurodegenerative Diseases, 2007, v. 4, n. 6, p. 413, doi. 10.1159/000107701
By:
- Boutillier, Stéphanie;
- Lannes, Béatrice;
- Buée, Luc;
- Delacourte, André;
- Rouaux, Caroline;
- Mohr, Michel;
- Bellocq, Jean-Pierre;
- Sellal, François;
- Larmet, Yves;
- Boutillier, Anne-Laurence;
- Loeffler, Jean-Philippe
Publication type:
Article
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Published in:
Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0781-8
By:
- Lornage, Xavière;
- Schartner, Vanessa;
- Balbueno, Inès;
- Biancalana, Valérie;
- Willis, Tracey;
- Echaniz-Laguna, Andoni;
- Scheidecker, Sophie;
- Quinlivan, Ros;
- Fardeau, Michel;
- Malfatti, Edoardo;
- Lannes, Béatrice;
- Sewry, Caroline;
- Romero, Norma B.;
- Laporte, Jocelyn;
- Böhm, Johann
Publication type:
Article
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 701, doi. 10.1038/ejhg.2011.256
By:
- Vasli, Nasim;
- Laugel, Vincent;
- Böhm, Johann;
- Lannes, Béatrice;
- Biancalana, Valérie;
- Laporte, Jocelyn
Publication type:
Article
Capillary pathology with prominent basement membrane reduplication is the hallmark histopathological feature of scleromyositis.
Published in:
Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12840
By:
- Ellezam, Benjamin;
- Leclair, Valérie;
- Troyanov, Yves;
- Bersali, Imane;
- Giannini, Margherita;
- Hoa, Sabrina;
- Bourré‐Tessier, Josiane;
- Nadon, Valérie;
- Drouin, Julie;
- Karamchandani, Jason;
- O'Ferrall, Erin;
- Lannes, Béatrice;
- Satoh, Minoru;
- Fritzler, Marvin J.;
- Senécal, Jean‐Luc;
- Hudson, Marie;
- Meyer, Alain;
- Landon‐Cardinal, Océane
Publication type:
Article
Skeletal and Cardiac Muscle Hydroxychloroquine Toxicity.
Published in:
Journal of Rheumatology, 2024, v. 51, n. 2, p. 207, doi. 10.3899/jrheum.2023-0120
By:
- Marmen, Maude Bouchard;
- Ohana, Mickael;
- Von Hunolstein, Jean-Jacques;
- Lannes, Béatrice;
- Meyer, Alain
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
Metabolomic characterization of human hippocampus from drug-resistant epilepsy with mesial temporal seizure.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 3, p. 607, doi. 10.1111/epi.14000
By:
- Detour, Julien;
- Bund, Caroline;
- Behr, Charles;
- Cebula, Hélène;
- Cicek, Ercument A.;
- Valenti-Hirsch, Maria-Paola;
- Lannes, Béatrice;
- Lhermitte, Benoît;
- Nehlig, Astrid;
- Kehrli, Pierre;
- Proust, François;
- Hirsch, Edouard;
- Namer, Izzie-Jacques
Publication type:
Article
Bilateral gastrocnemius myositis: an extra-intestinal manifestation of Crohn's disease.
Published in:
2022
By:
- Mertz, Philippe;
- Lannes, Béatrice;
- Pakleza, Aleksandra Nadaj;
- Meyer, Alain;
- Guffroy, Aurélien
Publication type:
Case Study
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
Can histologically normal epileptogenic zone share common electrophysiological phenotypes with focal cortical dysplasia? SEEG-based study in MRI-negative epileptic patients.
Published in:
Journal of Neurology, 2019, v. 266, n. 8, p. 1907, doi. 10.1007/s00415-019-09339-4
By:
- Lagarde, Stanislas;
- Scholly, Julia;
- Popa, Irina;
- Valenti-Hirsch, Maria Paola;
- Trebuchon, Agnès;
- McGonigal, Aileen;
- Milh, Mathieu;
- Staack, Anke M.;
- Lannes, Béatrice;
- Lhermitte, Benoît;
- Proust, François;
- Benmekhbi, Mustapha;
- Scavarda, Didier;
- Carron, Romain;
- Figarella-Branger, Dominique;
- Hirsch, Edouard;
- Bartolomei, Fabrice
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
Magnetic Resonance Imaging of Cerebral Aspergillosis: Imaging and Pathological Correlations.
Published in:
PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0152475
By:
- Marzolf, Guillaume;
- Sabou, Marcela;
- Lannes, Béatrice;
- Cotton, François;
- Meyronet, David;
- Galanaud, Damien;
- Cottier, Jean-Philippe;
- Grand, Sylvie;
- Desal, Hubert;
- Kreutz, Julie;
- Schenck, Maleka;
- Meyer, Nicolas;
- Schneider, Francis;
- Dietemann, Jean-Louis;
- Koob, Meriam;
- Herbrecht, Raoul;
- Kremer, Stéphane
Publication type:
Article
A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia.
Published in:
Movement Disorders, 2022, v. 37, n. 2, p. 365, doi. 10.1002/mds.28861
By:
- Khan, Amjad;
- Molitor, Anne;
- Mayeur, Sylvain;
- Zhang, Gaoqun;
- Rinaldi, Bruno;
- Lannes, Béatrice;
- Lhermitte, Benoît;
- Umair, Muhammad;
- Arold, Stefan T.;
- Friant, Sylvie;
- Rastegar, Sepand;
- Anheim, Mathieu;
- Bahram, Seiamak;
- Carapito, Raphael
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
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
Published in:
Biomedicines, 2024, v. 12, n. 2, p. 322, doi. 10.3390/biomedicines12020322
By:
- Onnée, Marion;
- Bénézit, Audrey;
- Bastu, Sultan;
- Nadaj-Pakleza, Aleksandra;
- Lannes, Béatrice;
- Ader, Flavie;
- Thèze, Corinne;
- Cintas, Pascal;
- Cances, Claude;
- Carlier, Robert-Yves;
- Metay, Corinne;
- Cossée, Mireille;
- Malfatti, Edoardo
Publication type:
Article
Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Published in:
Human Mutation, 2020, v. 41, n. 8, p. 1394, doi. 10.1002/humu.24037
By:
- Zereg, Elamine;
- Chaussenot, Annabelle;
- Morel, Godelieve;
- Bannwarth, Sylvie;
- Sacconi, Sabrina;
- Soriani, Marie‐Hélène;
- Attarian, Shahram;
- Cano, Aline;
- Pouget, Jean;
- Bellance, Rémi;
- Tranchant, Christine;
- Lannes, Béatrice;
- Paula, André Maues;
- Saadi Ait‐El‐Mkadem, Samira;
- Chafino, Bernadette;
- Berthet, Mathieu;
- Fragaki, Konstantina;
- Paquis‐Flucklinger, Véronique;
- Rouzier, Cécile
Publication type:
Article
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1826, doi. 10.1002/humu.23799
By:
- Scheidecker, Sophie;
- Bär, Séverine;
- Stoetzel, Corinne;
- Geoffroy, Véronique;
- Lannes, Béatrice;
- Rinaldi, Bruno;
- Fischer, Frédéric;
- Becker, Hubert D.;
- Pelletier, Valérie;
- Pagan, Cécile;
- Acquaviva‐Bourdain, Cécile;
- Kremer, Stéphane;
- Mirande, Marc;
- Tranchant, Christine;
- Muller, Jean;
- Friant, Sylvie;
- Dollfus, Hélène
Publication type:
Article
Refining Incidence and Characteristics of Inflammatory Myopathies: A Quadruple‐Source Capture–Recapture Survey Using the 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria.
Published in:
Arthritis & Rheumatology, 2023, v. 75, n. 10, p. 1850, doi. 10.1002/art.42561
By:
- Debrut, Léa;
- Giannini, Margherita;
- Klein, Delphine;
- Spielmann, Lionel;
- Mertz, Philippe;
- Martin, Thierry;
- Nadaj‐Pakleza, Aleksandra;
- Hirschi, Sandrine;
- Nespola, Benoit;
- Lannes, Béatrice;
- Terzic, Joëlle;
- Hinschberger, Olivier;
- Dervieux, Benjamin;
- Lipsker, Dan;
- Arnaud, Laurent;
- Gottenberg, Jacques‐Eric;
- Kleinmann, Jean François;
- Geny, Bernard;
- Séverac, François;
- Velten, Michel
Publication type:
Article

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