Team
Scientific Publications
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2025Journal (source)BrainChloride deregulation and GABA depolarization in MTOR-related malformations o...
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2024Journal (source)AutophagyPoly-GP accumulation due to C9orf72 loss of function induces motor neuron apo...
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2023Journal (source)Mol CellPoly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular ...
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2021Journal (source)Cell Rep MedCompromised mitochondrial quality control triggers lipin1-related rhabdomyoly...
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2019Journal (source)JAMA NeurolFenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrom...