Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations CL Liquori, MJ Berg, AM Siegel, E Huang, JS Zawistowski, D Verlaan, ... The American Journal of Human Genetics 73 (6), 1459-1464, 2003 | 370 | 2003 |
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course F Squitieri, C Gellera, M Cannella, C Mariotti, G Cislaghi, DC Rubinsztein, ... Brain 126 (4), 946-955, 2003 | 278 | 2003 |
Ganglioside GM1 induces phosphorylation of mutant huntingtin and restores normal motor behavior in Huntington disease mice A Di Pardo, V Maglione, M Alpaugh, M Horkey, RS Atwal, J Sassone, ... Proceedings of the National Academy of Sciences 109 (9), 3528-3533, 2012 | 182 | 2012 |
Impaired ganglioside metabolism in Huntington's disease and neuroprotective role of GM1 V Maglione, P Marchi, A Di Pardo, S Lingrell, M Horkey, E Tidmarsh, ... Journal of Neuroscience 30 (11), 4072-4080, 2010 | 151 | 2010 |
Severe ultrastructural mitochondrial changes in lymphoblasts homozygous for Huntington disease mutation F Squitieri, M Cannella, G Sgarbi, V Maglione, A Falleni, P Lenzi, ... Mechanisms of ageing and development 127 (2), 217-220, 2006 | 123 | 2006 |
Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus CL Liquori, MJ Berg, F Squitieri, M Ottenbacher, M Sorlie, TP Leedom, ... Human mutation 27 (1), 118-118, 2006 | 123 | 2006 |
FTY720 (fingolimod) is a neuroprotective and disease-modifying agent in cellular and mouse models of Huntington disease A Di Pardo, E Amico, M Favellato, R Castrataro, S Fucile, F Squitieri, ... Human molecular genetics 23 (9), 2251-2265, 2014 | 111 | 2014 |
Impairment of blood-brain barrier is an early event in R6/2 mouse model of Huntington Disease A Di Pardo, E Amico, F Scalabrì, G Pepe, S Castaldo, F Elifani, L Capocci, ... Scientific reports 7 (1), 41316, 2017 | 80 | 2017 |
Defective sphingosine-1-phosphate metabolism is a druggable target in Huntington’s disease A Di Pardo, E Amico, A Basit, A Armirotti, P Joshi, MD Neely, R Vuono, ... Scientific reports 7 (1), 5280, 2017 | 76 | 2017 |
Sphingolipid metabolism: a new therapeutic opportunity for brain degenerative disorders A Di Pardo, V Maglione Frontiers in neuroscience 12, 325221, 2018 | 74 | 2018 |
Pridopidine, a dopamine stabilizer, improves motor performance and shows neuroprotective effects in Huntington disease R6/2 mouse model F Squitieri, A Di Pardo, M Favellato, E Amico, V Maglione, L Frati Journal of cellular and molecular medicine 19 (11), 2540-2548, 2015 | 72 | 2015 |
The gender effect in juvenile Huntington disease patients of Italian origin M Cannella, C Gellera, V Maglione, P Giallonardo, G Cislaghi, M Muglia, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 125 …, 2004 | 72 | 2004 |
Glycosphingolipid metabolic reprogramming drives neural differentiation D Russo, F Della Ragione, R Rizzo, E Sugiyama, F Scalabrì, K Hori, ... The EMBO journal 37 (7), e97674, 2018 | 68 | 2018 |
Tractography of the corpus callosum in Huntington’s disease O Phillips, C Sanchez-Castaneda, F Elifani, V Maglione, A Di Pardo, ... PloS one 8 (9), e73280, 2013 | 66 | 2013 |
Onset and pre-onset studies to define the Huntington’s disease natural history F Squitieri, M Cannella, P Giallonardo, V Maglione, C Mariotti, ... Brain research bulletin 56 (3-4), 233-238, 2001 | 58 | 2001 |
De novo Synthesis of Sphingolipids Is Defective in Experimental Models of Huntington's Disease A Di Pardo, A Basit, A Armirotti, E Amico, S Castaldo, G Pepe, F Marracino, ... Frontiers in Neuroscience 11, 698, 2017 | 51 | 2017 |
MRI measures of corpus callosum iron and myelin in early Huntington's disease M Di Paola, OR Phillips, C Sanchez‐Castaneda, A Di Pardo, V Maglione, ... Human brain mapping 35 (7), 3143-3151, 2014 | 49 | 2014 |
Huntingtin fragmentation and increased caspase 3, 8 and 9 activities in lymphoblasts with heterozygous and homozygous Huntington's disease mutation V Maglione, M Cannella, R Gradini, G Cislaghi, F Squitieri Mechanisms of ageing and development 127 (2), 213-216, 2006 | 49 | 2006 |
Stimulation of S1PR5 with A-971432, a selective agonist, preserves blood–brain barrier integrity and exerts therapeutic effect in an animal model of Huntington’s … A Di Pardo, S Castaldo, E Amico, G Pepe, F Marracino, L Capocci, ... Human Molecular Genetics 27 (14), 2490-2501, 2018 | 46 | 2018 |
Genotype‐dependent priming to self‐and xeno‐cannibalism in heterozygous and homozygous lymphoblasts from patients with Huntington's disease E Mormone, P Matarrese, A Tinari, M Cannella, V Maglione, MG Farrace, ... Journal of neurochemistry 98 (4), 1090-1099, 2006 | 45 | 2006 |