Federico Zara

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.8K citations

Life Sciences, Genetics, Molecular Genetics +17

Analysis of shared heritability in common disorders of the brain

Verneri Anttila, Brendan Bulik‐Sullivan, Hilary K. Finucane et al. · Science · 2018 · 2K citations · Full text

Life Sciences, Genetics, Psychiatry +17

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Carlo Minetti, Federica Sotgia, Claudio Bruno et al. · Nature Genetics · 1998 · 586 citations

Life Sciences, Genetics, Molecular Genetics +7

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

Medicine, Genetics, Neurology +17

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek et al. · Nature Communications · 2018 · 513 citations · Full text

Medicine, Genetics, Molecular Genetics +16