Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences M Musso, R Bocciardi, S Parodi, R Ravazzolo, I Ceccherini The Journal of Molecular Diagnostics 8 (5), 544-550, 2006 | 171 | 2006 |
Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy C Scaramuzzino, I Casci, S Parodi, PMJ Lievens, MJ Polanco, C Milioto, ... Neuron 85 (1), 88-100, 2015 | 108 | 2015 |
Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet A Rocchi, C Milioto, S Parodi, A Armirotti, D Borgia, M Pellegrini, ... Acta neuropathologica 132, 127-144, 2016 | 87 | 2016 |
Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia C Rinaldi, T Schmidt, AJ Situ, JO Johnson, PR Lee, K Chen, LC Bott, ... JAMA neurology 72 (5), 561-570, 2015 | 86 | 2015 |
Parental origin and somatic mosaicism of PHOX2B mutations in congenital central hypoventilation syndrome S Parodi, T Bachetti, F Lantieri, MD Duca, G Santamaria, G Ottonello, ... Human mutation 29 (1), 206-206, 2008 | 61 | 2008 |
Neurotoxic effects of androgens in spinal and bulbar muscular atrophy S Parodi, M Pennuto Frontiers in Neuroendocrinology 32 (4), 416-425, 2011 | 59 | 2011 |
Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy MJ Polanco, S Parodi, D Piol, C Stack, M Chivet, A Contestabile, ... Science Translational Medicine 8 (370), 370ra181-370ra181, 2016 | 44 | 2016 |
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome T Bachetti, S Parodi, M Di Duca, G Santamaria, R Ravazzolo, I Ceccherini Journal of molecular medicine 89, 505-513, 2011 | 42 | 2011 |
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins E Di Zanni, T Bachetti, S Parodi, P Bocca, I Prigione, S Di Lascio, ... Neurobiology of disease 45 (1), 508-518, 2012 | 39 | 2012 |
Glomerular clusterin is associated with PKC-α/β regulation and good outcome of membranous glomerulonephritis in humans MP Rastaldi, G Candiano, L Musante, M Bruschi, S Armelloni, L Rimoldi, ... Kidney international 70 (3), 477-485, 2006 | 36 | 2006 |
Polyglutamine-expanded androgen receptor alteration of skeletal muscle homeostasis and myonuclear aggregation are affected by sex, age and muscle metabolism M Chivet, C Marchioretti, M Pirazzini, D Piol, C Scaramuzzino, ... Cells 9 (2), 325, 2020 | 34 | 2020 |
Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome T Bachetti, A Robbiano, S Parodi, I Matera, E Merello, V Capra, ... American journal of respiratory and critical care medicine 174 (6), 706-709, 2006 | 32 | 2006 |
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma L Longo, S Borghini, F Schena, S Parodi, D Albino, T Bachetti, L Da Prato, ... International journal of oncology 33 (5), 985-991, 2008 | 28 | 2008 |
Cis and trans regulatory elements in NPHS2 promoter: Implications in proteinuria and progression of renal diseases M Di Duca, R Oleggini, S Sanna-Cherchi, L Pasquali, A Di Donato, ... Kidney international 70 (7), 1332-1341, 2006 | 28 | 2006 |
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B S Parodi, E Di Zanni, S Di Lascio, P Bocca, I Prigione, D Fornasari, ... Journal of molecular medicine 90, 1025-1035, 2012 | 25 | 2012 |
Congenital central hypoventilation syndrome: genotype–phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation S Parodi, C Vollono, MP Baglietto, M Balestri, M Di Duca, PA Landri, ... Clinical genetics 78 (3), 289-293, 2010 | 23 | 2010 |
A novel missense mutation in the PHOX2Bgene is associated with late onset central hypoventilation syndrome S Parodi, MP Baglietto, AP Prato, F Caroli, A Garaventa, I Ceccherini, ... Pediatric pulmonology 43 (10), 1036-1039, 2008 | 16 | 2008 |
Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function D Piol, L Tosatto, E Zuccaro, EN Anderson, A Falconieri, MJ Polanco, ... Science Advances 9 (1), eade1694, 2023 | 7 | 2023 |
Detection of ornithine decarboxylase mRNA in human breast cancer MCF-7 cells by in situ RT-PCR. L Clerico, T Mancuso, S Crovella, A Amoroso, M Morgutti, E Demori, ... International journal of oncology 16 (2), 241-245, 2000 | 5 | 2000 |
Polyglutamine-expanded androgen receptor disrupts muscle triad, calcium dynamics and the excitation-contraction coupling gene expression program M Chivet, C Marchioretti, M Pirazzini, D Piol, C Scaramuzzino, ... bioRxiv, 618405, 2019 | 3 | 2019 |