Antisense oligonucleotides: the next frontier for treatment of neurological disorders C Rinaldi, MJA Wood Nature Reviews Neurology 14 (1), 9-21, 2018 | 689 | 2018 |
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ... Neurology 78 (10), 690-695, 2012 | 428 | 2012 |
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study H Jacobi, P Bauer, P Giunti, R Labrum, MG Sweeney, P Charles, A Duerr, ... Neurology 77 (11), 1035-1041, 2011 | 235 | 2011 |
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor C Rinaldi, C Grunseich, IF Sevrioukova, A Schindler, I Horkayne-Szakaly, ... The American Journal of Human Genetics 91 (6), 1095-1102, 2012 | 150 | 2012 |
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 G Landouré, PP Zhu, CM Lourenço, JO Johnson, C Toro, KV Bricceno, ... Human mutation 34 (10), 1357-1360, 2013 | 99 | 2013 |
Atorvastatin combined to interferon to verify the efficacy (ACTIVE) in relapsing—remitting active multiple sclerosis patients: a longitudinal controlled trial of combination … R Lanzillo, G Orefice, M Quarantelli, C Rinaldi, A Prinster, G Ventrella, ... Multiple Sclerosis Journal 16 (4), 450-454, 2010 | 87 | 2010 |
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 | 83 | 2015 |
MicroRNA-298 reduces levels of human amyloid-β precursor protein (APP), β-site APP-converting enzyme 1 (BACE1) and specific tau protein moieties N Chopra, R Wang, B Maloney, K Nho, JS Beck, N Pourshafie, ... Molecular psychiatry 26 (10), 5636-5657, 2021 | 81 | 2021 |
Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy C Rinaldi, LC Bott, K Chen, GG Harmison, M Katsuno, G Sobue, ... Molecular medicine 18, 1261-1268, 2012 | 73 | 2012 |
Individual versus group therapy for obesity: comparison of dropout rate and treatment outcome A Minniti, L Bissoli, V Di Francesco, F Fantin, R Mandragona, M Olivieri, ... Eating and Weight Disorders-Studies on Anorexia, Bulimia and Obesity 12, 161-167, 2007 | 67 | 2007 |
Spinal and bulbar muscular atrophy: pathogenesis and clinical management C Grunseich, C Rinaldi, KH Fischbeck Oral diseases 20 (1), 6-9, 2014 | 66 | 2014 |
Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease R Manzano, G Sorarú, C Grunseich, P Fratta, E Zuccaro, M Pennuto, ... Journal of Neurology, Neurosurgery & Psychiatry 89 (8), 808-812, 2018 | 63 | 2018 |
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy RC Bott LC, Badders NM, Chen KL, Harmison GG, Bautista E, Shih CC, Katsuno M ... Hum Mol Genet, 2016 | 63 | 2016 |
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy. RC Bott LC, Badders NM, Chen KL, Harmison GG, Bautista E, Shih CC, Katsuno M ... Hum Mol Genet., 0 | 63* | |
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy V Lombardi, G Querin, OJ Ziff, L Zampedri, I Martinelli, C Heller, M Foiani, ... Neurology 92 (11), e1205-e1211, 2019 | 62 | 2019 |
A randomized controlled clinical trial of growth hormone in amyotrophic lateral sclerosis: clinical, neuroimaging, and hormonal results F Saccà, M Quarantelli, C Rinaldi, T Tucci, R Piro, G Perrotta, ... Journal of neurology 259, 132-138, 2012 | 62 | 2012 |
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat C Grunseich, IR Kats, LC Bott, C Rinaldi, A Kokkinis, D Fox, K Chen, ... Neuromuscular Disorders 24 (11), 978-981, 2014 | 57 | 2014 |
Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients C Grunseich, K Zukosky, IR Kats, L Ghosh, GG Harmison, LC Bott, ... Neurobiology of disease 70, 12-20, 2014 | 57 | 2014 |
Clinical manifestations of intermediate allele carriers in Huntington disease E Cubo, MA Ramos-Arroyo, S Martinez-Horta, A Martínez-Descalls, ... Neurology 87 (6), 571-578, 2016 | 56 | 2016 |
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study C Criscuolo, A Filla, G Coppola, C Rinaldi, R Carbone, S Pinto, Q Wang, ... Journal of neurology 256, 1252-1257, 2009 | 47 | 2009 |