Publications

2025

Küry S et al. Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. Nat Commun. 2025 Nov 26;16(1):10545. doi: 10.1038/s41467-025-65556-8. PMID: 41298377

2024

Houzelstein D et al. A conserved NR5A1-responsive enhancer regulates SRY in testis-determination. Nat Commun. 2024 Mar 30;15(1):2796. doi: 10.1038/s41467-024-47162-2. PMID: 38555298

2023

Lefebvre-Omar C et al. Neurofilament accumulations in amyotrophic lateral sclerosis patients’ motor neurons impair axonal initial segment integrity. Cell Mol Life Sci. 2023 May 15;80(6):150. doi: 10.1007/s00018-023-04797-6. PMID: 37184603

2019

Genin EC et al. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse. Acta Neuropathol. 2019 Jul;138(1):123-145. doi: 10.1007/s00401-019-01988-z. Epub 2019 Mar 14. PMID: 30874923

2016

Gautier CA et al. The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations. Hum Mol Genet. 2016 Jul 15;25(14):2972-2984. Epub 2016 May 19. PMID: 27206984