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Navegación por Autor Seri, Marco
Mostrando resultados 1 a 3 de 3
Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | ene-2016 | ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism | Panza, Emanuele; Escamilla-Honrubia, Juan Manuel; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine CSIC ORCID; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Nemeth, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente CSIC ORCID ; Seri, Marco | artículo |
openAccess | | ago-2019 | P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9 | Magini, Pamela; Marco‐Marin, Clara; Escamilla-Honrubia, Juan Manuel; Martinelli, Diego; Dionisi-Vici, Carlo; Faravelli, Francesca; Forzano, Francesca; Seri, Marco; Rubio, Vicente CSIC ORCID ; Panza, Emanuele | artículo |
openAccess | | jul-2020 | Δ 1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder | Marco-Marín, Clara CSIC ORCID; Escamilla-Honrubia, Juan Manuel; Llácer, José Luis CSIC ORCID ; Seri, Marco; Panza, Emanuele; Rubio, Vicente CSIC ORCID | revisión |