Giovanna Ferrandes

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

J.-M. Lee, E.M. Ramos, J.-H. Lee et al. · Neurology · 2012 · 391 citations · Full text

Life Sciences, Genetics, Neurology +15

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Davina J. Hensman Moss, Antonio F. Pardiñas, Douglas R. Langbehn et al. · The Lancet Neurology · 2017 · 332 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 48 citations · Full text

Life Sciences, Genetics, Neurology +14

Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study

Paul McNulty, Richard Pilcher, Renata Necuiniate et al. · Journal of Huntington s Disease · 2018 · 37 citations · Full text

Medicine, Oncology, Cancer Epidemiology +16

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

Paola Origone, Claudia Caponnetto, M. Poggio et al. · Amyotrophic Lateral Sclerosis · 2010 · 30 citations

Life Sciences, Genetics, Molecular Genetics +15