Motor neuron derivation from human embryonic and induced pluripotent stem cells: experimental approaches and clinical perspectives I Faravelli, M Bucchia, P Rinchetti, M Nizzardo, C Simone, E Frattini, ... Stem cell research & therapy 5, 1-13, 2014 | 81 | 2014 |
Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications? C Simone, A Ramirez, M Bucchia, P Rinchetti, H Rideout, D Papadimitriou, ... Cellular and molecular life sciences 73, 1003-1020, 2016 | 76 | 2016 |
MicroRNA metabolism and dysregulation in amyotrophic lateral sclerosis P Rinchetti, M Rizzuti, I Faravelli, S Corti Molecular neurobiology 55, 2617-2630, 2018 | 68 | 2018 |
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model M Nizzardo, C Simone, F Rizzo, S Salani, S Dametti, P Rinchetti, R Del Bo, ... Science advances 1 (2), e1500078, 2015 | 49 | 2015 |
SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation P Richard, S Feng, YL Tsai, W Li, P Rinchetti, U Muhith, J Irizarry-Cole, ... Autophagy 17 (8), 1889-1906, 2021 | 46 | 2021 |
The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review F Porro, P Rinchetti, F Magri, G Riboldi, M Nizzardo, C Simone, C Zanetta, ... Journal of the Neurological Sciences 346 (1-2), 35-42, 2014 | 41 | 2014 |
Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow V Mishra, DB Re, V Le Verche, MJ Alvarez, A Vasciaveo, A Jacquier, ... Nature communications 11 (1), 5579, 2020 | 37 | 2020 |
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy E Monfrini, L Straniero, S Bonato, GM Compagnoni, A Bordoni, R Dilena, ... Parkinsonism & Related Disorders 63, 66-72, 2019 | 27 | 2019 |
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 F Vanoli, P Rinchetti, F Porro, V Parente, S Corti Journal of cellular and molecular medicine 19 (9), 2058-2066, 2015 | 24 | 2015 |
Retromer dysfunction in amyotrophic lateral sclerosis EJ Pérez-Torres, I Utkina-Sosunova, V Mishra, P Barbuti, ... Proceedings of the National Academy of Sciences 119 (26), e2118755119, 2022 | 12 | 2022 |
Sumoylation regulates the assembly and activity of the SMN complex GM Riboldi, I Faravelli, T Kuwajima, N Delestrée, G Dermentzaki, ... Nature Communications 12 (1), 5040, 2021 | 11 | 2021 |
The SMN complex at the crossroad between RNA metabolism and neurodegeneration I Faravelli, GM Riboldi, P Rinchetti, F Lotti International Journal of Molecular Sciences 24 (3), 2247, 2023 | 7 | 2023 |
Brain calcifications: genetic, molecular, and clinical aspects E Monfrini, F Arienti, P Rinchetti, F Lotti, GM Riboldi International Journal of Molecular Sciences 24 (10), 8995, 2023 | 6 | 2023 |
SMN post-translational modifications in spinal muscular atrophy GM Riboldi, I Faravelli, P Rinchetti, F Lotti Frontiers in Cellular Neuroscience 17, 1092488, 2023 | 1 | 2023 |
Depletion of Mettl3 in cholinergic neurons causes adult-onset neuromuscular degeneration G Dermentzaki, M Furlan, I Tanaka, T Leonardi, P Rinchetti, PMS Passos, ... Cell Reports 43 (4), 2024 | | 2024 |
Three-Dimensional Stem Cell-derived Spinal Cord Model for Investigating Therapeutic Mechanisms of Risdiplam-like Compounds in Spinal Muscular Atrophy (P2-11.001) A D'Angelo, F Beatrice, J Ongaro, P Rinchetti, I Faravelli, M Miotto, ... Neurology 102 (17_supplement_1), 3752, 2024 | | 2024 |
Optimization of AAV9 gene therapy for Spinal Muscular Atrophy with respiratory distress Type 1 using in vivo disease models E Pagliari Università degli Studi di Milano, 2023 | | 2023 |
Human Organoids to study and treat Spinal Muscular Atrophy I Faravelli, P Rinchetti, S Mancinelli, L Mapelli, G Forotti, M Rizzuti, ... EUROPEAN JOURNAL OF NEUROLOGY 27, 168-168, 2020 | | 2020 |
Development of 3D in vitro model to study molecular mechanisms of spinal muscular atrophy P Rinchetti Università degli Studi di Milano, 2020 | | 2020 |
Generation of C9-ALS patient specific iPSC-derived motor neurons for pathogenetic studies and evaluation of Morpholino oligomers efficacy D Gagliardi, M Taiana, M Bersani, M Nizzardo, P Rinchetti, S Barabino, ... EUROPEAN JOURNAL OF NEUROLOGY 26, 223-223, 2019 | | 2019 |