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Collezione AOU San Luigi di Orbassano

  

Items : 2

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. in Brain : a journal of neurology / Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124.
2021
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Rehm HL; Casasnovas C; Adams DR; de Souza P; Marcé-Grau A; Canonico F; Iascone M; Fossati C; Sala-Coromina J; Rouvet I; Schlüter A; Goizet C; Ruiz M; Michaud V; Chacón A; Barredo E; O'Heir E; O'Leary M; Mandrile G; Pavinato L; Saettini F; Benkirane M; Roubertie A; Raspall-Chaure M; de la Calle I; Planas-Serra L; Vélez-Santamaria V; Rodríguez-Palmero A; Verdura E; et alii...

DLG4-related synaptopathy: a new rare brain disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17.
2021
AOU San Luigi di Orbassano

Rodríguez-Palmero A; Boerrigter MM; Gómez-Andrés D; Aldinger KA; Marcos-Alcalde Í; Popp B; Everman DB; Lovgren AK; Arpin S; Bahrambeigi V; Beunders G; Bisgaard AM; Bjerregaard VA; Bruel AL; Challman TD; Cogné B; Coubes C; de Man SA; Denommé-Pichon AS; Dye TJ; Elmslie F; Feuk L; García-Miñaúr S; Gertler T; Giorgio E; Gruchy N; Haack TB; Haldeman-Englert CR; Haukanes BI; et alii...