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Mancuso M | OMICS International
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Mancuso M

Italy
Publications

Expanding Glucocerebrosidase Involvement in Neurodegeneration: D419H Mutation Causing Dementia with Lewy Bodies

Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Dementia with Lewy Bodies (DLB). Hereby, we describe an Italian family with three DLB relatives harboring the D419H GBA variant. The pedigree analysis indicates a dominant inheritance pattern, suggesting that heterozygous GBA mutations may differently affect the ris... Read More»

Palermo G, Logerfo A, Nicoletti V, Bonuccelli U, Siciliano G, Mancuso M and Ceravolo R

: J Mol Genet Med 2019, 13: 437

Abstract Peer-reviewed Article PDF

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