SOX10 mutations in patients with Waardenburg-Hirschsprung disease V Pingault, N Bondurand, K Kuhlbrodt, DE Goerich, MO Préhu, A Puliti, ... Nature genetics 18 (2), 171-173, 1998 | 951 | 1998 |
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease B Herbarth, V Pingault, N Bondurand, K Kuhlbrodt, I Hermans-Borgmeyer, ... Proceedings of the National Academy of Sciences 95 (9), 5161-5165, 1998 | 457 | 1998 |
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10 S Lyonnet, A Bolino, A Pelet, L Abel, C Nihoul-Fekete, ML Briard, ... Nature genetics 4 (4), 346-350, 1993 | 237 | 1993 |
Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR G Patrone, F Puppo, R Cusano, M Scaranari, I Ceccherini, A Puliti, ... Biotechniques 29 (5), 1012-1017, 2000 | 117 | 2000 |
Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10 G Martucciello, MP Bicocchi, P Dodero, M Lerone, M Silengo Cirillo, ... Pediatric surgery international 7, 308-310, 1992 | 105 | 1992 |
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model F Maltecca, E Baseggio, F Consolato, D Mazza, P Podini, SM Young, ... The Journal of clinical investigation 125 (1), 263-274, 2015 | 80 | 2015 |
Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1 S Notartomaso, C Zappulla, F Biagioni, M Cannella, D Bucci, G Mascio, ... Molecular brain 6, 1-17, 2013 | 72 | 2013 |
Poland syndrome: a proposed classification system and perspectives on diagnosis and treatment MV Romanini, MG Calevo, A Puliti, C Vaccari, M Valle, F Senes, M Torre Seminars in pediatric surgery 27 (3), 189-199, 2018 | 61 | 2018 |
Expression of Tsga10 sperm tail protein in embryogenesis and neural development: from cilium to cell division B Behnam, MH Modarressi, V Conti, KE Taylor, A Puliti, J Wolfe Biochemical and biophysical research communications 344 (4), 1102-1110, 2006 | 60 | 2006 |
The HIV-1 viral protein Tat increases glutamate and decreases GABA exocytosis from human and mouse neocortical nerve endings V Musante, M Summa, E Neri, A Puliti, TT Godowicz, P Severi, G Battaglia, ... Cerebral cortex 20 (8), 1974-1984, 2010 | 55 | 2010 |
Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis M Milanese, F Giribaldi, M Melone, T Bonifacino, I Musante, E Carminati, ... Neurobiology of Disease 64, 48-59, 2014 | 54 | 2014 |
Protective role for type-1 metabotropic glutamate receptors against spike and wave discharges in the WAG/Rij rat model of absence epilepsy RT Ngomba, I Santolini, F Biagioni, G Molinaro, A Simonyi, CM Van Rijn, ... Neuropharmacology 60 (7-8), 1281-1291, 2011 | 54 | 2011 |
Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings V Musante, E Neri, M Feligioni, A Puliti, M Pedrazzi, V Conti, C Usai, ... Neuropharmacology 55 (4), 474-482, 2008 | 54 | 2008 |
crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1) V Conti, A Aghaie, M Cilli, N Martin, G Caridi, L Musante, G Candiano, ... International journal of molecular medicine 18 (4), 593-600, 2006 | 51 | 2006 |
De novo deletion of chromosome 11q12. 3 in monozygotic twins affected by Poland Syndrome CM Vaccari, MV Romanini, I Musante, E Tassano, S Gimelli, MT Divizia, ... BMC medical genetics 15, 1-7, 2014 | 47 | 2014 |
Human Homology and Candidate Genes for theDominant megacolonLocus, a Mouse Model of Hirschsprung Disease V Pingault, A Puliti, MO Préhu, A Samadi, N Bondurand, M Goossens Genomics 39 (1), 86-89, 1997 | 47 | 1997 |
Group I metabotropic glutamate autoreceptors induce abnormal glutamate exocytosis in a mouse model of amyotrophic lateral sclerosis F Giribaldi, M Milanese, T Bonifacino, PIA Rossi, S Di Prisco, A Pittaluga, ... Neuropharmacology 66, 253-263, 2013 | 42 | 2013 |
Three-dimensional podocyte–endothelial cell co-cultures: assembly, validation, and application to drug testing and intercellular signaling studies M Li, A Corbelli, S Watanabe, S Armelloni, M Ikehata, V Parazzi, ... European Journal of Pharmaceutical Sciences 86, 1-12, 2016 | 40 | 2016 |
Nephrin expression in adult rodent central nervous system and its interaction with glutamate receptors M Li, S Armelloni, M Ikehata, A Corbelli, M Pesaresi, N Calvaresi, ... The Journal of pathology 225 (1), 118-128, 2011 | 40 | 2011 |
Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1 A Puliti, PIA Rossi, G Caridi, A Corbelli, M Ikehata, S Armelloni, M Li, ... The American journal of pathology 178 (3), 1257-1269, 2011 | 35 | 2011 |