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Page 1
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Díaz RM, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidane-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E. Tessarech M, et al. Among authors: friocourt g. Genet Med. 2024 May;26(5):101087. doi: 10.1016/j.gim.2024.101087. Epub 2024 Jan 27. Genet Med. 2024. PMID: 38288683 Free article.
Prenatal alcohol exposure is a leading cause of interneuronopathy in humans.
Marguet F, Friocourt G, Brosolo M, Sauvestre F, Marcorelles P, Lesueur C, Marret S, Gonzalez BJ, Laquerrière A. Marguet F, et al. Among authors: friocourt g. Acta Neuropathol Commun. 2020 Nov 30;8(1):208. doi: 10.1186/s40478-020-01089-z. Acta Neuropathol Commun. 2020. PMID: 33256853 Free PMC article.
Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses.
Marguet F, Brosolo M, Friocourt G, Sauvestre F, Marcorelles P, Lesueur C, Marret S, Gonzalez BJ, Laquerrière A. Marguet F, et al. Among authors: friocourt g. Acta Neuropathol Commun. 2022 May 14;10(1):74. doi: 10.1186/s40478-022-01378-9. Acta Neuropathol Commun. 2022. PMID: 35568959 Free PMC article.
A small de novo 16q24.1 duplication in a woman with severe clinical features.
Quéméner-Redon S, Bénech C, Audebert-Bellanger S, Friocourt G, Planes M, Parent P, Férec C. Quéméner-Redon S, et al. Among authors: friocourt g. Eur J Med Genet. 2013 Apr;56(4):211-5. doi: 10.1016/j.ejmg.2013.01.001. Epub 2013 Jan 17. Eur J Med Genet. 2013. PMID: 23333879 Free article.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: friocourt g. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?
Curie A, Friocourt G, des Portes V, Roy A, Nazir T, Brun A, Cheylus A, Marcorelles P, Retzepi K, Maleki N, Bussy G, Paulignan Y, Reboul A, Ibarrola D, Kong J, Hadjikhani N, Laquerrière A, Gollub RL. Curie A, et al. Among authors: friocourt g. Neuroimage Clin. 2018 Apr 5;19:454-465. doi: 10.1016/j.nicl.2018.04.001. eCollection 2018. Neuroimage Clin. 2018. PMID: 29984154 Free PMC article.
44 results