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Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.
Calandra CR, Buda G, Vishnopolska SA, Oliveri J, Olivieri FA, Pérez Millán MI, Biagioli G, Miquelini LA, Pellene AL, Marti MA. Calandra CR, et al. Among authors: olivieri fa. Parkinsonism Relat Disord. 2020 Apr;73:52-54. doi: 10.1016/j.parkreldis.2020.03.020. Epub 2020 Mar 24. Parkinsonism Relat Disord. 2020. PMID: 32248051 No abstract available.
Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report.
Buda G, Valdez RM, Biagioli G, Olivieri FA, Affranchino N, Bouso C, Lotersztein V, Bogunovic D, Bustamante J, Martí MA. Buda G, et al. Among authors: olivieri fa. Allergy Asthma Clin Immunol. 2020 Sep 3;16:77. doi: 10.1186/s13223-020-00473-7. eCollection 2020. Allergy Asthma Clin Immunol. 2020. PMID: 32944031 Free PMC article.
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA, Mercogliano MF, Camilletti MA, Mortensen AH, Braslavsky D, Keselman A, Bergadá I, Olivieri F, Miranda L, Marino R, Ramírez P, Pérez Garrido N, Patiño Mejia H, Ciaccio M, Di Palma MI, Belgorosky A, Martí MA, Kitzman JO, Camper SA, Pérez-Millán MI. Vishnopolska SA, et al. J Clin Endocrinol Metab. 2021 Jun 16;106(7):1956-1976. doi: 10.1210/clinem/dgab177. J Clin Endocrinol Metab. 2021. PMID: 33729509 Free PMC article.