Elisa Sarto

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

Viviana Pensato, Barbara Castellotti, Cinzia Gellera et al. · Brain · 2014 · 157 citations · Full text

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Matthis Synofzik, Katrien Smets, Martial Mallaret et al. · Brain · 2016 · 123 citations · Full text

Neurological Disorder, Genetics, Large Multi-centre Study +16

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

Stefania Magri, Lorenzo Nanetti, Cinzia Gellera et al. · Genetics in Medicine · 2021 · 67 citations · Full text

Genetic Disorder, Genetics, Molecular Biology +5

Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis

Natalia Dominik, Stefania Magri, Riccardo Curró et al. · Brain · 2023 · 66 citations · Full text

Disease Progression, Immunodeficiencies, Genetics +21

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype

Lorenzo Nanetti, Elisa Sarto, Anna Castaldo et al. · Journal of Neurology · 2018 · 27 citations

Mendelian Disorder, Genetic Disorder, Genetics +8