Article
Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Neurobiology of aging - 1 Jan 2021
Bartoletti-Stella Anna, De Pasqua Silvia, Baiardi Simone, Bartolomei Ilaria, Mengozzi Giacomo, Orio Giuseppe, Pastorelli Francesca, Piras Silvia, Poda Roberto, Raggi Alberto, Stanzani Maserati Michelangelo, Tarozzi Martina, Liguori Rocco, Salvi Fabrizio, Parchi Piero, Capellari Sabina
Abstract excerpt
Loss-of-function mutations in the gene encoding for the protein progranulin (PGRN), GRN, are one of the major genetic abnormalities involved in frontotemporal lobar degeneration. However, genetic variations, mainly missense, in GRN have also been linked to other neurodegenerative diseases. We found 12 different pathogenic/likely pathogenic variants in 21 patients identified in a cohort of Italian patients...
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