Concepedia

Lucia Saccuzzo

LS

Statistics

Publications

2

Citations

44

H-Index

2

Active since

2019

Affiliations

University of Catania(Current)

Oasi Maria SS

Istituti di Ricovero e Cura a Carattere Scientifico

Lucia Saccuzzo is an author at University of Catania specializing in medicine, neurogenetics, and brain development.

ORCID

Top concepts

Publications per year

2019–2019

2

Publications

2

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

Carmela Scuderi, Lucia Saccuzzo, Mirella Vinci et al. · European Journal of Human Genetics · 2019 · 29 citations · Full text

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Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

Marco Fichera, Pinella Failla, Lucia Saccuzzo et al. · Human Genetics · 2019 · 15 citations

, , +14

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