Schottlaender, Lucia Valentina

Datos académicos

PRODUCCION CIENTÍFICO TECNOLÓGICA

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Artículo Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, Maria Natalia ; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia Valentina ; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Åse K.; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gaël; Arnesen, Thomas; Houlden, Henry (Nature, 2024-03-13)
Artículo Feeding difficulties in children and adolescents with spinal muscular atrophy type 2

Wadman, Renske I.; De Amicis, Ramona; Brusa, Chiara; Battezzati, Alberto; Bertoli, Simona; Davis, Tracey; Main, Marion; Manzur, Adnan; Mastella, Chiara; Munot, Pinki; Imbrigiotta, Nadia; Schottlaender, Lucia Valentina ; Sarkozy, Anna; Trucco, Federica; Baranello, Giovanni; Scoto, Mariacristina; Muntoni, Francesco (Elsevier, 2021-02)
Artículo Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

Sokratous, Maria; Schottlaender, Lucia Valentina ; Bourinaris, Thomas; Marogianni, Chrysoula; Arnaoutoglou, Marianthi; Patrikiou, Eleni; Ralli, Styliani; Markou, Aikaterini; Dardiotis, Efthimios; Houlden, Henry; Hadjigeorgiou, Georgios M.; Xiromerisiou, Georgia (Taylor & Francis, 2020-07)

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