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authFullName_s : Claire-Marie Dhaenens
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A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

Isabelle Meunier , Béatrice Bocquet , Gilles Labesse , Christina Zeitz , Sabine Defoort-Dhellemmes , et al.
Scientific Reports, 2016, Scientific reports, 6, pp.32544. ⟨10.1038/srep32544⟩
Journal articles hal-01824596v1
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A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

Isabelle Meunier , Béatrice Bocquet , Majida Charif , Claire-Marie Dhaenens , Gael Manes , et al.
RETINA. The Journal of Retinal and Vitreous Diseases, 2021, 41 (8), pp.1771-1779. ⟨10.1097/IAE.0000000000003054⟩
Journal articles hal-03873036v1
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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

Vasily Smirnov , Olivier Grunewald , Jean Muller , Christina Zeitz , Carolin D Obermaier , et al.
International Journal of Molecular Sciences, 2021, 22 (12), pp.6410. ⟨10.3390/ijms22126410⟩
Journal articles hal-03278573v1
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Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms

Helene Tran , Nathalie Gourrier , Camille Lemercier-Neuillet , Claire-Marie Dhaenens , Audrey Vautrin , et al.
Journal of Biological Chemistry, 2011, 286 (18), pp.16435 - 16446. ⟨10.1074/jbc.M110.194928⟩
Journal articles hal-01738403v1
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Tau as a biomarker of neurodegenerative diseases.

Susanna Schraen-Maschke , Nicolas Sergeant , Claire-Marie Dhaenens , Stephanie Bombois , Vincent Deramecourt , et al.
Biomarkers in Medicine, 2008, 2 (4), pp.363-84. ⟨10.2217/17520363.2.4.363⟩
Journal articles inserm-00375314v1
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Neurogenetics of the Human Adenosine Receptor Genes: Genetic Structures and Involvement in Brain Diseases

Vincent Huin , Claire-Marie Dhaenens , Mégane Homa , Kévin Carvalho , Luc Buée , et al.
Journal of Caffeine and Adenosine Research, 2019, 9 (3), pp.73-88. ⟨10.1089/caff.2019.0011⟩
Journal articles inserm-02460598v1

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Guillaume Olivier , Marta Corton , Daniela Intartaglia , Sanne Verbakel , Panagiotis Sergouniotis , et al.
Journal of Medical Genetics, 2021, 58 (8), pp.570-578. ⟨10.1136/jmedgenet-2020-107150⟩
Journal articles hal-03652615v1
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Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer’s disease and progressive supranuclear palsy brains

Vincent Huin , Vincent Deramecourt , Dominique Caparros-Lefebvre , Claude Alain Maurage , Charles Duyckaerts , et al.
Scientific Reports, 2017, 7 (1), pp.12589. ⟨10.1038/s41598-017-12955-7⟩
Journal articles inserm-02460428v1
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Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Marco Nassisi , Saddek Mohand-Saïd , Claire-Marie Dhaenens , Fiona Boyard , Vanessa Démontant , et al.
International Journal of Molecular Sciences, 2018, 19 (8), pp.2196. ⟨10.3390/ijms19082196⟩
Journal articles hal-01884681v1
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CNGB1 ‐related rod‐cone dystrophy: A mutation review and update

Marco Nassisi , Vasily M Smirnov , Cyntia Solis Hernandez , Saddek Mohand-Saïd , Christel Condroyer , et al.
Human Mutation, 2021, 42 (6), pp.641-666. ⟨10.1002/humu.24205⟩
Journal articles hal-03240900v1
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MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1

Vincent Huin , Francis Vasseur , Susanna Schraen-Maschke , Claire-Marie Dhaenens , Patrick Devos , et al.
Journal of Neurology, 2013, 260 (4), pp.998-1003. ⟨10.1007/s00415-012-6740-y⟩
Journal articles istex hal-03555357v1
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The p.Asp216His TOR1A allele effect is not found in the French population.

Mélissa Yana Frédéric , Fabienne Clot , Arnaud Blanchard , Claire-Marie Dhaenens , Gaetan Lesca , et al.
Movement Disorders, 2009, 24 (6), pp.919-21. ⟨10.1002/mds.22407⟩
Journal articles inserm-00396259v1
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RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Isabelle Audo , Saddek Mohand-Saïd , Claire-Marie Dhaenens , Aurore Germain , Elise Orhan , et al.
Human Mutation, 2012, 33 (1), pp.73-80. ⟨10.1002/humu.21640⟩
Journal articles inserm-00640066v1