| Mutations in DCHS1 cause mitral valve prolapse R Durst, K Sauls, DS Peal, A Devlaming, K Toomer, M Leyne, M Salani, ... Nature 525 (7567), 109-113, 2015 | 200 | 2015 |
| The readthrough variant of acetylcholinesterase remains very minor after heat shock, organophosphate inhibition and stress, in cell culture and in vivo NA Perrier, M Salani, C Falasca, S Bon, G Augusti‐Tocco, J Massoulié Journal of neurochemistry 94 (3), 629-638, 2005 | 77 | 2005 |
| The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis G Forlani, E Giarda, U Ala, F Di Cunto, M Salani, R Tupler, ... Human molecular genetics 19 (16), 3114-3123, 2010 | 63 | 2010 |
| Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia E Morini, P Dietrich, M Salani, HM Downs, GR Wojtkiewicz, S Alli, ... Human Molecular Genetics 25 (6), 1116-1128, 2016 | 41 | 2016 |
| A deep learning approach to identify gene targets of a therapeutic for human splicing disorders D Gao, E Morini, M Salani, AJ Krauson, A Chekuri, N Sharma, ... Nature communications 12 (1), 3332, 2021 | 32 | 2021 |
| ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia E Morini, D Gao, CM Montgomery, M Salani, C Mazzasette, TA Krussig, ... The American Journal of Human Genetics 104 (4), 638-650, 2019 | 32 | 2019 |
| Hepatocyte growth factor stimulates cell motility in cultures of the striatal progenitor cells ST14A E Cacci, M Salani, S Anastasi, I Perroteau, G Poiana, S Biagioni, ... Journal of neuroscience research 74 (5), 760-768, 2003 | 32 | 2003 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 27 | 2023 |
| Acetylcholine‐induced neuronal differentiation: Muscarinic receptor activation regulates EGR‐1 and REST expression in neuroblastoma cells M Salani, T Anelli, GA Tocco, E Lucarini, C Mozzetta, G Poiana, AM Tata, ... Journal of neurochemistry 108 (3), 821-834, 2009 | 26 | 2009 |
| Acetylcholine induces neurite outgrowth and modulates matrix metalloproteinase 2 and 9 T Anelli, F Mannello, M Salani, GA Tonti, G Poiana, S Biagioni Biochemical and biophysical research communications 362 (2), 269-274, 2007 | 20 | 2007 |
| Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia M Salani, F Urbina, A Brenner, E Morini, R Shetty, CS Gallagher, EA Law, ... SLAS DISCOVERY: Advancing Life Sciences R&D 24 (1), 57-67, 2019 | 19 | 2019 |
| Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models K Mohajeri, R Yadav, E D'haene, PM Boone, S Erdin, D Gao, ... The American Journal of Human Genetics 109 (11), 2049-2067, 2022 | 12 | 2022 |
| MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV S DeRosa, M Salani, S Smith, M Sangster, V Miller-Browne, S Wassmer, ... Human Molecular Genetics 30 (10), 908-922, 2021 | 10 | 2021 |
| Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia A Chekuri, EM Logan, AJ Krauson, M Salani, S Ackerman, EG Kirchner, ... Human Molecular Genetics 31 (11), 1776-1787, 2022 | 7 | 2022 |
| Readthrough acetylcholinesterase expression remains minor after stress or exposure to inhibitors NA Perrier, M Salani, C Falasca, S Bon, G Augusti-Tocco, J Massoulié Journal of Molecular Neuroscience 30 (1-2), 75, 2006 | 7 | 2006 |
| High-resolution and noninvasive fetal exome screening H Brand, CW Whelan, M Duyzend, J Lemanski, M Salani, SP Hao, I Wong, ... New England Journal of Medicine 389 (21), 2014-2016, 2023 | 6 | 2023 |
| Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia E Morini, A Chekuri, EM Logan, JM Bolduc, EG Kirchner, M Salani, ... The American Journal of Human Genetics 110 (3), 531-547, 2023 | 6 | 2023 |
| Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage E Morini, D Gao, EM Logan, M Salani, AJ Krauson, A Chekuri, YT Chen, ... Journal of Genetics and Genomics 49 (7), 654-665, 2022 | 6 | 2022 |
| A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders D Gao, E Morini, M Salani, AJ Krauson, A Ragavendran, S Erdin, ... BioRxiv, 2020.02. 03.932103, 2020 | 6 | 2020 |
| Facioscapulohumeral muscular dystrophy: from clinical data to molecular genetics and return M Salani, E Morini, I Scionti, R Tupler Neuromuscular Disorders, 2012 | 5 | 2012 |
