RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

Launay, Nathalie ; Ruiz, Montserrat ; Planas-Serra, Laura ; Verdura, Edgard ; Rodríguez-Palmero, Agustí ; Schlüter, Agatha ; Goicoechea, Leire ; Guilera, Cristina ; Casas, Josefina ; Campelo, Felix ; Jouanguy, Emmanuelle ; Casanova, Jean-Laurent ; Boespflug-Tanguy, Odile ; Vazquez Cancela, Maria ; Gutiérrez-Solana, Luis González ; Casasnovas, Carlos ; Area-Gomez, Estela ; Pujol, Aurora

The Journal of clinical investigation, 2023-07, Vol.133 (14) [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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