Publications by authors named "G Lesca"

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A dwdr45 knock-out drosophila model to decipher the role of autophagy in BPAN.
Marion Celle, Sahra Aniorte, Abdul-Raouf Issa, Marion Falabregue, Haixiu Jin, Gaetan Lesca

Hum Mol Genet· December 2025

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Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.
V Thormeyer, Z Meyer, T Polster, I Borggraefe, B Wallacher, G Lesca

Neuropediatrics· November 2025

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The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Maria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, Ana Töpf, Alexander Hoischen, Gaëtan Lesca

Genet Med· November 2025

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Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.
Florence Desprez, Solène Remize, Liberty François-Moutal, Dévina C Ung, Audrey Dangoumau, Gaetan Lesca

Mol Psychiatry· November 2025

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A Pleiotropic and Functionally Divergent Variant Disrupts Neurodevelopment and Impacts Organogenesis.
Ryota Sugawara, Marcello Scala, Sara Cabet, Carine Abel, Louis Januel, Gaetan Lesca

Cells· September 2025

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