Fabio Gotta

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

Life Sciences, Genetics, Neurology +17

Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients

Merit Lamp, Paola Origone, Alessandro Geroldi et al. · Neurobiology of Aging · 2018 · 21 citations

Life Sciences, Genetics, Neurology +16

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

Life Sciences, Genetics, Neurology +17

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 · 19 citations

Life Sciences, Genetics, Neurology +16

A novel mutation in <i>COL3A1</i> associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

Federica Ruscitti, Lucia Trevisan, Giulia Rosti et al. · Molecular Genetics & Genomic Medicine · 2021 · 15 citations · Full text

Medicine, Cardiology, Molecular Genetics +16