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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.
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.
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.
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 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.
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 articles
inserm-02460598v1
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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 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.
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.
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.
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 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.
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.
Journal articles
inserm-00640066v1
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