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authFullName_s : Béatrice Lannes

IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis

Alain Meyer , Gilles Laverny , Yves Allenbach , Elise Grelet , Vanessa Ueberschlag et al.
Acta Neuropathologica, 2017, 134 (4), pp.655-666. ⟨10.1007/s00401-017-1731-9⟩
Journal articles hal-02377506v1
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A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia

Amjad Khan , Anne Molitor , Sylvain Mayeur , Gaoqun Zhang , Bruno Rinaldi et al.
Movement Disorders, 2022, 37 (2), pp.365-374. ⟨10.1002/mds.28861⟩
Journal articles hal-03509022v1
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Clinical, histological, and genetic characterization of PYROXD1-related myopathy

Xavière Lornage , Vanessa Schartner , Inès Balbueno , Valérie Biancalana , Tracey Willis et al.
Acta Neuropathologica Communications, 2019, 7, pp.138. ⟨10.1186/s40478-019-0781-8⟩
Journal articles hal-02278850v1

Expanding the phenotypic spectrum in neurological disorders associated with mutations in KARS gene (lysyl-tRNA synthetase) by the identification of a novel mutation

Sophie Scheidecker , Séverine Bär , Corinne Stoetzel , Véronique Geoffroy , Béatrice Lannes et al.
52nd European Society of Human Genetics (ESHG) Conference, Jun 2019, Gothenburg, Sweden. pp.283
Conference papers hal-02378865v1

The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

David Wallon , Stéphane Rousseau , Anne Rovelet-Lecrux , Muriel Quillard-Muraine , Lucie Guyant-Maréchal et al.
Journal of Alzheimer's Disease, 2012, 30 (4), pp.847-56. ⟨10.3233/JAD-2012-120172⟩
Journal articles hal-00965220v1
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Induction of amyloid-β deposits from serially transmitted, histologically silent, Aβ seeds issued from human brains

Anne-Sophie Herard , Fanny Petit , Charlotte Gary , Martine Guillermier , Susana Boluda et al.
Acta Neuropathologica Communications, 2020, 8 (1), ⟨10.1186/s40478-020-01081-7⟩
Journal articles hal-03052986v1

Transcriptional Coactivator and Chromatin Protein PC4 Is Involved in Hippocampal Neurogenesis and Spatial Memory Extinction

Amrutha Swaminathan , Hélène Delage , Snehajyoti Chatterjee , Laurence Belgarbi-Dutron , Raphaelle Cassel et al.
Journal of Biological Chemistry, 2016, 291 (39), pp.20303-20314. ⟨10.1074/jbc.M116.744169⟩
Journal articles hal-02262286v1

Refining myositis associated with primary Sjögren’s syndrome: data from the prospective cohort ASSESS

Renaud Felten , Margherita Giannini , Benoit Nespola , Béatrice Lannes , Dan Levy et al.
Journal articles hal-02921536v1

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

Gabrielle Rudolf , T. Suominen , S. Penttila , P. Hackman , A. Evila et al.
Journal of Neuromuscular Diseases, 2016, 3 (2), pp.275-281. ⟨10.3233/JND-150143⟩
Journal articles hal-03680493v1

Population-based prevalence of eosinophilic fasciitis (Shulman syndrome): a capture-recapture study.

Lionel Spielmann , Laurent Arnaud , François Séverac , Laurent Messer , Antoine Mahé et al.
British Journal of Dermatology, 2018, 179 (2), ⟨10.1111/bjd.16535⟩
Journal articles hal-03611172v1

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Solveig Montaut , Nadege Diedhiou , Pauline Fahrer , Cécilia Marelli , Benoit Lhermitte et al.
Journal of Neurology, 2021, 268 (9), pp.3337-3343. ⟨10.1007/s00415-021-10499-5⟩
Journal articles hal-03709403v1

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

Andoni Echaniz-Laguna , Xaviére Lornage , Pascal Laforêt , Mette Cathrine Orngreen , Evelina F. Edelweiss et al.
Annals of Neurology, 2020, 88 (2), pp.274-282. ⟨10.1002/ana.25771⟩
Journal articles hal-02938436v1

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei

Xavière Lornage , Pascal Sabouraud , Béatrice Lannes , Dominique Gaillard , Raphael Schneider et al.
Journal of Neuromuscular Diseases, 2018, 5 (2), pp.257-260. ⟨10.3233/jnd-170265⟩
Journal articles hal-03664348v1

Metabolomics characterization of human hippocampus from drug resistant epilepsy with mesial temporal seizure

Julien Detour , Caroline Bund , Charles Behr , Hélène Cebula , Ercument A. Cicek et al.
Epilepsia, 2018, ⟨10.1111/epi.14000⟩
Journal articles hal-03511493v1

Magnetic Resonance Imaging of Cerebral Aspergillosis: Imaging and Pathological Correlations

Guillaume Marzolf , Marcela Sabou , Béatrice Lannes , François Cotton , David Meyronet et al.
PLoS ONE, 2016, 11 (4)
Journal articles hal-01377871v1

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

Suzanne Lam , Anne-Sophie Hérard , Susana Boluda , Fanny Petit , Sabiha Eddarkaoui et al.
Acta Neuropathologica Communications, 2022, 10 (1), pp.112. ⟨10.1186/s40478-022-01410-y⟩
Journal articles hal-03787306v1

Deep brain stimulation does not enhance neuroinflammation in multiple system atrophy

Miguel Lopez-Cuina , Pierre-Olivier Fernagut , Marie-Hélène Canron , Anne Vital , Béatrice Lannes et al.
Neurobiology of Disease, 2018, 118, pp.155-160. ⟨10.1016/j.nbd.2018.07.016⟩
Journal articles hal-02347480v1
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Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

Sophie Scheidecker , Séverine Bär , Corinne Stoetzel , Véronique Geoffroy , Béatrice Lannes et al.
Human Mutation, 2019, 40 (10), pp.1826-1840. ⟨10.1002/humu.23799⟩
Journal articles hal-02164041v1