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IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis
Alain Meyer
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Gilles Laverny
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Yves Allenbach
,
Elise Grelet
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Vanessa Ueberschlag
et al.
Journal articles
hal-02377506v1
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A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia
Amjad Khan
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Anne Molitor
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Sylvain Mayeur
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Gaoqun Zhang
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Bruno Rinaldi
et al.
Journal articles
hal-03509022v1
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Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Xavière Lornage
,
Vanessa Schartner
,
Inès Balbueno
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Valérie Biancalana
,
Tracey Willis
et al.
Journal articles
hal-02278850v1
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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
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The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
David Wallon
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Stéphane Rousseau
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Anne Rovelet-Lecrux
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Muriel Quillard-Muraine
,
Lucie Guyant-Maréchal
et al.
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
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Charlotte Gary
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Martine Guillermier
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Susana Boluda
et al.
Journal articles
hal-03052986v1
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Transcriptional Coactivator and Chromatin Protein PC4 Is Involved in Hippocampal Neurogenesis and Spatial Memory Extinction
Amrutha Swaminathan
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Hélène Delage
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Snehajyoti Chatterjee
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Laurence Belgarbi-Dutron
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Raphaelle Cassel
et al.
Journal articles
hal-02262286v1
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Refining myositis associated with primary Sjögren’s syndrome: data from the prospective cohort ASSESS
Renaud Felten
,
Margherita Giannini
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Benoit Nespola
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Béatrice Lannes
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Dan Levy
et al.
Journal articles
hal-02921536v1
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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 articles
hal-03680493v1
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Population-based prevalence of eosinophilic fasciitis (Shulman syndrome): a capture-recapture study.
Lionel Spielmann
,
Laurent Arnaud
,
François Séverac
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Laurent Messer
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Antoine Mahé
et al.
Journal articles
hal-03611172v1
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Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort
Solveig Montaut
,
Nadege Diedhiou
,
Pauline Fahrer
,
Cécilia Marelli
,
Benoit Lhermitte
et al.
Journal articles
hal-03709403v1
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A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation
Andoni Echaniz-Laguna
,
Xaviére Lornage
,
Pascal Laforêt
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Mette Cathrine Orngreen
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Evelina F. Edelweiss
et al.
Journal articles
hal-02938436v1
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Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
Xavière Lornage
,
Pascal Sabouraud
,
Béatrice Lannes
,
Dominique Gaillard
,
Raphael Schneider
et al.
Journal articles
hal-03664348v1
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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.
Journal articles
hal-03511493v1
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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
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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.
Journal articles
hal-03787306v1
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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.
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.
Journal articles
hal-02164041v1
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