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Page 1
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: boncristiano a. Brain. 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. Brain. 2022. PMID: 35675510 Free PMC article.
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study.
Gorini F, Santoro M, Pierini A, Mezzasalma L, Baldacci S, Bargagli E, Boncristiano A, Brunetto MR, Cameli P, Cappelli F, Castaman G, Coco B, Donati MA, Guerrini R, Linari S, Murro V, Olivotto I, Parronchi P, Pochiero F, Rossi O, Scappini B, Sodi A, Vannucchi AM, Coi A. Gorini F, et al. Among authors: boncristiano a. Front Pharmacol. 2022 May 16;13:869842. doi: 10.3389/fphar.2022.869842. eCollection 2022. Front Pharmacol. 2022. PMID: 35652051 Free PMC article.
P013. 25(OH)D Level and headache in children sample.
Tozzi E, Boncristiano A, Antenucci A, Di Loreto S, Farello G. Tozzi E, et al. Among authors: boncristiano a. J Headache Pain. 2015 Dec;16(Suppl 1):A84. doi: 10.1186/1129-2377-16-S1-A84. J Headache Pain. 2015. PMID: 28132304 Free PMC article. No abstract available.