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authFullName_s : Claire Pujol
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MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy

Claire Pujol , Elise Lebigot , Pauline Gaignard , Said Galai , Ichraf Kraoua , et al.
Brain - A Journal of Neurology , 2022, pp.awac444. ⟨10.1093/brain/awac444⟩
Journal articles pasteur-03934309v1
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FGF21 modulates mitochondrial stress response in cardiomyocytes only under mild mitochondrial dysfunction

Marijana Croon , Karolina Szczepanowska , Milica Popovic , Christina Lienkamp , Katharina Senft , et al.
Science Advances , 2022, 8 (14), pp.eabn7105. ⟨10.1126/sciadv.abn7105⟩
Journal articles pasteur-03639915v1

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4

Livia Parodi , Mathieu Barbier , Maxime Jacoupy , Claire Pujol , François-Xavier Lejeune , et al.
Genetics in Medicine, 2022, pp.S1098-3600. ⟨10.1016/j.gim.2022.07.023⟩
Journal articles pasteur-03813186v1
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Hereditary spastic paraplegia type 56: what a mouse can tell – a narrative review

Livia Parodi , Claire Pujol
Journal of Bio-X Research, 2022, 5 (2), pp.55-63. ⟨10.1097/JBR.0000000000000127⟩
Journal articles pasteur-03715425v1
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Implication of folate deficiency in CYP2U1 loss of function

Claire Pujol , Anne Legrand , Livia Parodi , Priscilla Thomas , Fanny Mochel , et al.
Journal of Experimental Medicine, 2021, 218 (11), pp.e20210846. ⟨10.1084/jem.20210846⟩
Journal articles pasteur-03349041v1