GARAVAGLIA, BARBARA

GARAVAGLIA, BARBARA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia 2020 Carecchio M.Garavaglia B. + ANNALS OF NEUROLOGY - -
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series 2021 Carecchio M.Garavaglia B.Corrado L. + NEUROGENETICS - -
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy 2013 Garavaglia B.Sartori S.Suppiej A.Bertini E.Simonati A. + ORPHANET JOURNAL OF RARE DISEASES - -
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 2019 Valente, MarialuisaSartori, StefanoGaravaglia, Barbara + JOURNAL OF CLINICAL MEDICINE - -