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Human Molecular Genetics|June 20, 2013
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10Fabrice A C Klein, Gabrielle Zeder-Lutz, Alexandra Cousido-Siah, et al.Journal of Molecular Biology|June 15, 2007
Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradientFabrice A C Klein, Annalisa Pastore, Laura Masino, et al.Human Molecular Genetics|November 27, 2018
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disabilityFrancesca Mattioli, Bertrand Isidor, Omar Abdul-Rahman, et al.Human Molecular Genetics|January 26, 2006
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation programGretta Abou-Sleymane, Frédéric Chalmel, Dominique Helmlinger, et al.Journal of Human Genetics|January 15, 2016
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndromeElise Schaefer, Corinne Stoetzel, Sophie Scheidecker, et al.Biological Psychiatry|February 12, 2018
Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum DisorderAngélique Quartier, Laure Chatrousse, Claire Redin, et al.Journal of Neurology|February 19, 2009
SPG11 spastic paraplegia. A new cause of juvenile parkinsonismMathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, et al.BMC Psychiatry|August 25, 2022
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDARomain Coutelle, Morgane Boedec, Karlijn Vermeulen, et al.Forensic Science International. Genetics|March 22, 2024
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigationsLila Krebs-Drouot, Audrey Schalk, Elise Schaefer, et al.Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|December 25, 2023
Ocular manifestations in Koolen-de Vries syndrome: an international studyDafna Shalev, David A Koolen, Bert B A de Vries, et al.Pageof 21