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International Journal of Molecular Sciences|August 11, 2019
Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?Kevin Mouzat, Aleksandra Chudinova, Anne Polge, et al.
Clinical Genetics|April 23, 2023
Discovering the ANK2-related autism phenotypeClaire Guissart, Anne Polge, Nelly Durand, et al.
Experimental Neurology|November 28, 2006
Mild surfection of neural cells, especially motoneurons, in primary culture and cell linesClovis Rakotoarivelo, Didier Petite, Jan de Weille, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|November 29, 2016
Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutationGuillaume Taieb, Anne Polge, Raul Juntas-Morales, et al.
Journal of Molecular Endocrinology|May 15, 2007
Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1Birgit Köhler, Anne-Lise Delezoide, Brigitte Boizet-Bonhoure, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|November 9, 2021
Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase geneEmilien Bernard, Antoine Pegat, Anne-Evelyne Vallet, et al.
Scientific Reports|November 27, 2020
Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decayClaire Guissart, Kevin Mouzat, Jovana Kantar, et al.
Fertility and Sterility|May 12, 2007
Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutationFrançoise Paris, Pascal Philibert, Serge Lumbroso, et al.
Cell Reports|February 27, 2020
Spinal Motoneuron TMEM16F Acts at C-boutons to Modulate Motor Resistance and Contributes to ALS PathogenesisClaire Soulard, Céline Salsac, Kevin Mouzat, et al.
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