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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study; Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network; Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators; Masuelli L, Conti V, Novarino G, Fassio A. Guerrini R, et al. Among authors: pepe s. Brain. 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. Brain. 2022. PMID: 35675510 Free PMC article.
Real-life evaluation of potential candidates for treatment discontinuation in chronic myeloid leukemia: the impact of age and long-term follow-up.
Scalzulli E, Colafigli G, Pepe S, De Luca G, Di Prima A, Efficace F, Diverio D, Latagliata R, Martelli M, Foà R, Breccia M. Scalzulli E, et al. Among authors: pepe s. Leuk Lymphoma. 2021 Apr;62(4):1026-1027. doi: 10.1080/10428194.2020.1808205. Epub 2020 Aug 16. Leuk Lymphoma. 2021. PMID: 32799601 No abstract available.
Clinical relevance of silent red blood cell autoantibodies.
Mauro FR, Trastulli F, Alessandri C, Valesini G, Giovannetti G, Riemma C, Porrazzo M, Pepe S, Colafigli G, Caputo MD, De Propris MS, Guarini AR, Girelli G, Coluzzi S, Foà R. Mauro FR, et al. Among authors: pepe s. Haematologica. 2017 Dec;102(12):e473-e475. doi: 10.3324/haematol.2017.177675. Epub 2017 Sep 21. Haematologica. 2017. PMID: 28935848 Free PMC article. No abstract available.
345 results