| Poly (ADP-ribose) polymerase-2 (PARP-2) is required for efficient base excision DNA repair in association with PARP-1 and XRCC1 V Schreiber, JC Amé, P Dollé, I Schultz, B Rinaldi, V Fraulob, ... Journal of Biological Chemistry 277 (25), 23028-23036, 2002 | 930 | 2002 |
| WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy M Kannan, E Bayam, C Wagner, B Rinaldi, PF Kretz, P Tilly, M Roos, ... Proceedings of the National Academy of Sciences 114 (44), E9308-E9317, 2017 | 89 | 2017 |
| Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation BS Cowling, I Prokic, H Tasfaout, A Rabai, F Humbert, B Rinaldi, AS Nicot, ... The Journal of clinical investigation 127 (12), 4477-4487, 2017 | 79 | 2017 |
| Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice L Amoasii, DL Bertazzi, H Tronchère, K Hnia, G Chicanne, B Rinaldi, ... Public Library of Science 8 (10), e1002965, 2012 | 65 | 2012 |
| NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation CN Castro, M Rosenzwajg, R Carapito, M Shahrooei, M Konantz, A Khan, ... Journal of Experimental Medicine 217 (12), e20192275, 2020 | 60 | 2020 |
| Structure of ad (TGGGGT) quadruplex crystallized in the presence of Li+ ions C Creze, B Rinaldi, R Haser, P Bouvet, P Gouet Acta Crystallographica Section D: Biological Crystallography 63 (6), 682-688, 2007 | 60 | 2007 |
| Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes J Morvan, B Rinaldi, S Friant Molecular Biology of the Cell 23 (20), 4054-4064, 2012 | 38 | 2012 |
| Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy MA Raess, BS Cowling, DL Bertazzi, C Kretz, B Rinaldi, JM Xuereb, ... Human molecular genetics 26 (19), 3736-3748, 2017 | 30 | 2017 |
| Study of the plant COPII vesicle coat subunits by functional complementation of yeast Saccharomyces cerevisiae mutants JO De Craene, F Courte, B Rinaldi, C Fitterer, MC Herranz, ... PLoS One 9 (2), e90072, 2014 | 24 | 2014 |
| Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy MT Sainio, S Välipakka, B Rinaldi, H Lapatto, A Paetau, S Ojanen, ... Journal of Neurology 266, 353-360, 2019 | 20 | 2019 |
| Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy S Scheidecker, S Bär, C Stoetzel, V Geoffroy, B Lannes, B Rinaldi, ... Human mutation 40 (10), 1826-1840, 2019 | 19 | 2019 |
| Lsb1 is a negative regulator of las17 dependent actin polymerization involved in endocytosis M Spiess, JO de Craene, A Michelot, B Rinaldi, A Huber, DG Drubin, ... PLoS One 8 (4), e61147, 2013 | 17 | 2013 |
| Contributions of the RNA-binding and linker domains and RNA structure to the specificity and affinity of the nucleolin RBD12/NRE interaction LD Finger, C Johansson, B Rinaldi, P Bouvet, J Feigon Biochemistry 43 (22), 6937-6947, 2004 | 15 | 2004 |
| A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia A Khan, A Molitor, S Mayeur, G Zhang, B Rinaldi, B Lannes, B Lhermitte, ... Movement Disorders 37 (2), 365-374, 2022 | 13 | 2022 |
| Btn3 regulates the endosomal sorting function of the yeast Ent3 epsin, an adaptor for SNARE proteins J Morvan, JO de Craene, B Rinaldi, V Addis, C Misslin, S Friant Journal of cell science 128 (4), 706-716, 2015 | 12 | 2015 |
| Bi-allelic variants in WDR47 lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans. E Bayam, P Tilly, S Collins, J Rivera Alvarez, M Kannan, L Tonneau, ... bioRxiv, 2023.12. 22.572779, 2023 | | 2023 |
| Cex1 is a component of the COPI intracellular trafficking machinery L Enkler, B Rinaldi, JO de Craene, P Hammann, O Nureki, B Senger, ... Biology Open 10 (3), bio058528, 2021 | | 2021 |
| Whole Exome Sequencing in unsolved pediatric cases G Moresco, O Rondinone, A Mauri, C Santaniello, J Costanza, B Rinaldi, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 933-933, 2020 | | 2020 |
| A homozygous missense mutation in an highly conserved autosomal gene coding poly (A)-binding protein cause female infertility due to oocyte maturation arrest at GV stage O Okutman, AS Gürbüz, U Büyük, S Friant, B Rinaldi, J Muller, S Viville HUMAN REPRODUCTION 35, I373-I374, 2020 | | 2020 |
| Outcome of Whole Exome Sequencing for diagnostic cases of a clinic pediatric center: the Medical Genetic Unit of MeyerChildren's hospital experience A Provenzano, A La Barbera, V Palazzo, R Artuso, S Landini, L Giunti, ... European Journal Of Human Genetics 27, 540-541, 2019 | | 2019 |
