Lucia Trevisan

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

Marina Grandis, Laura Obici, Marco Luigetti et al. · Orphanet Journal of Rare Diseases · 2020 · 44 citations · Full text

Role of <b><i>MAPT</i></b> in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients

Paola Origone, Alessandro Geroldi, Merit Lamp et al. · Neurodegenerative Diseases · 2018 · 27 citations

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic <scp>hyperCKemia</scp>

Chiara Gemelli, Monica Traverso, Lucia Trevisan et al. · Muscle & Nerve · 2021 · 21 citations · Full text

Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

Paola Origone, Fabio Gotta, Merit Lamp et al. · Cerebellum & Ataxias · 2018 · 19 citations · Full text

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Fabio Gotta, Merit Lamp, Alessandro Geroldi et al. · Annals of Human Genetics · 2020 · 17 citations