Paola Rinchetti

SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation

P. Richard, Shuang Feng, Yueh-Lin Tsai et al. · Autophagy · 2020 · 64 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model

Monica Nizzardo, Chiara Simone, Federica Rizzo et al. · Science Advances · 2015 · 58 citations · Full text

Medicine, Genetics, Neuroscience +17

Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow

Vartika Mishra, Diane B. Ré, Virginia Le Verche et al. · Nature Communications · 2020 · 56 citations · Full text

Life Sciences, Neuroscience, Systems Biology +17

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

Edoardo Monfrini, Letizia Straniero, Sara Bonato et al. · Parkinsonism & Related Disorders · 2019 · 27 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Sumoylation regulates the assembly and activity of the SMN complex

Giulietta Riboldi, Irene Faravelli, Takaaki Kuwajima et al. · Nature Communications · 2021 · 16 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +17