| TDP‐43 regulates its mRNA levels through a negative feedback loop YM Ayala, L De Conti, SE Avendaño‐Vázquez, A Dhir, M Romano, ... The EMBO journal 30 (2), 277-288, 2011 | 630 | 2011 |
| Splicing in action: assessing disease causing sequence changes D Baralle, M Baralle Journal of medical genetics 42 (10), 737-748, 2005 | 567 | 2005 |
| Exon and intron definition in pre‐mRNA splicing L De Conti, M Baralle, E Buratti Wiley Interdisciplinary Reviews: RNA 4 (1), 49-60, 2013 | 394 | 2013 |
| Nuclear factor TDP‐43 can affect selected microRNA levels E Buratti, L De Conti, C Stuani, M Romano, M Baralle, F Baralle The FEBS journal 277 (10), 2268-2281, 2010 | 302 | 2010 |
| Defective splicing, disease and therapy: searching for master checkpoints in exon definition E Buratti, M Baralle, FE Baralle Nucleic acids research 34 (12), 3494-3510, 2006 | 248 | 2006 |
| Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization E Buratti, M Chivers, J Královičová, M Romano, M Baralle, AR Krainer, ... Nucleic acids research 35 (13), 4250-4263, 2007 | 211 | 2007 |
| Congenital insensitivity to pain: novel SCN9A missense and in‐frame deletion mutations JJ Cox, J Sheynin, Z Shorer, F Reimann, AK Nicholas, L Zubovic, ... Human mutation 31 (9), E1670-E1686, 2010 | 148 | 2010 |
| Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay M Baralle, D Baralle, L De Conti, C Mattocks, J Whittaker, A Knezevich, ... Journal of medical genetics 40 (3), 220-222, 2003 | 105 | 2003 |
| hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes E Buratti, M Baralle, L De Conti, D Baralle, M Romano, YM Ayala, ... Nucleic acids research 32 (14), 4224-4236, 2004 | 98 | 2004 |
| TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways L De Conti, MV Akinyi, R Mendoza-Maldonado, M Romano, M Baralle, ... Nucleic acids research 43 (18), 8990-9005, 2015 | 86 | 2015 |
| Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing M Baralle, T Pastor, E Bussani, F Pagani The American Journal of Human Genetics 83 (1), 77-88, 2008 | 79 | 2008 |
| The role of TDP-43 in the pathogenesis of ALS and FTLD M Baralle, E Buratti, FE Baralle Biochemical society transactions 41 (6), 1536-1540, 2013 | 78 | 2013 |
| An intronic mutation causes long QT syndrome L Zhang, GM Vincent, M Baralle, FE Baralle, BD Anson, DW Benson, ... Journal of the American College of Cardiology 44 (6), 1283-1291, 2004 | 77 | 2004 |
| The splicing code M Baralle, FE Baralle Biosystems 164, 39-48, 2018 | 76 | 2018 |
| NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region M Baralle, N Skoko, A Knezevich, L De Conti, D Motti, M Bhuvanagiri, ... FEBS letters 580 (18), 4449-4456, 2006 | 73 | 2006 |
| TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins S Prpar Mihevc, M Baralle, E Buratti, B Rogelj Scientific reports 6 (1), 33996, 2016 | 61 | 2016 |
| Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation S Bembich, JS Herzog, L De Conti, C Stuani, SE Avendano-Vazquez, ... Nucleic acids research 42 (5), 3362-3371, 2014 | 51 | 2014 |
| An amyloid-like pathological conformation of TDP-43 is stabilized by hypercooperative hydrogen bonds M Mompeán, M Baralle, E Buratti, DV Laurents Frontiers in molecular neuroscience 9, 125, 2016 | 48 | 2016 |
| Neurodegeneration and RNA‐binding proteins L De Conti, M Baralle, E Buratti Wiley Interdisciplinary Reviews: RNA 8 (2), e1394, 2017 | 45 | 2017 |
| The pathological splicing mutation c. 6792C> G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors N Skoko, M Baralle, E Buratti, FE Baralle FEBS letters 582 (15), 2231-2236, 2008 | 41 | 2008 |
