Mitochondrial AKAP121 links cAMP and src signaling to oxidative metabolism A Livigni, A Scorziello, S Agnese, A Adornetto, A Carlucci, C Garbi, ... Molecular biology of the cell 17 (1), 263-271, 2006 | 186 | 2006 |
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. G De Michele, A Filla, F Cavalcanti, L Di Maio, L Pianese, I Castaldo, ... Journal of Neurology, Neurosurgery & Psychiatry 57 (8), 977-979, 1994 | 151 | 1994 |
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, ... Journal of medical genetics 45 (12), 808-812, 2008 | 140 | 2008 |
Intergenerational instability and marked anticipation in SCA-17 F Maltecca, A Filla, I Castaldo, G Coppola, NA Fragassi, M Carella, ... Neurology 61 (10), 1441-1443, 2003 | 124 | 2003 |
Somatic mosaicism in sperm is associated with intergenerational (CAG) n changes in Huntington disease H Telenius, E Almqvist, B Kremer, N Spence, F Squitieri, K Nichol, ... Human molecular genetics 4 (2), 189-195, 1995 | 104 | 1995 |
The effect of parental gender on the GAA dynamic mutation in the FRDA gene. L Pianese, F Cavalcanti, G De Michele, A Filla, G Campanella, ... American journal of human genetics 60 (2), 460, 1997 | 88 | 1997 |
Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families A Filla, C Mariotti, G Caruso, G Coppola, S Cocozza, I Castaldo, ... European neurology 44 (1), 31-36, 2000 | 85 | 2000 |
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression F Acquaviva, I Castaldo, A Filla, M Giacchetti, D Marmolino, A Monticelli, ... The Cerebellum 7, 360-365, 2008 | 71 | 2008 |
Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families A Filla, G De Michele, L Santoro, O Calabrese, I Castaldo, S Giuffrida, ... Journal of neurology 246, 467-471, 1999 | 71 | 1999 |
PPAR-γ agonist azelaoyl PAF increases frataxin protein and mRNA expression. New implications for the friedreich’s ataxia therapy D Marmolino, F Acquaviva, M Pinelli, A Monticelli, I Castaldo, A Filla, ... The Cerebellum 8, 98-103, 2009 | 65 | 2009 |
Pro12Ala polymorphism of the PPARγ2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients O Vaccaro, E Lapice, A Monticelli, M Giacchetti, I Castaldo, R Galasso, ... Diabetes care 30 (5), 1156-1161, 2007 | 63 | 2007 |
Reduced striatal [123I]FP‐CIT binding in SCA2 patients without parkinsonism A Varrone, E Salvatore, G De Michele, P Barone, V Sansone, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 59 | 2004 |
Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family A Filla, G De Michele, S Banfi, L Santoro, A Perretti, F Cavalcanti, ... Neurology 45 (4), 793-796, 1995 | 53 | 1995 |
Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes A Filla, G De Michele, G Campanella, A Perretti, L Santoro, L Serlenga, ... Journal of the neurological sciences 142 (1-2), 140-147, 1996 | 41 | 1996 |
DNA damage signatures in peripheral blood cells as biomarkers in prodromal huntington disease I Castaldo, M De Rosa, A Romano, C Zuchegna, F Squitieri, R Mechelli, ... Annals of neurology 85 (2), 296-301, 2019 | 39 | 2019 |
Predictors of survival in a Huntington's disease population from southern Italy C Rinaldi, E Salvatore, I Giordano, S De Matteis, T Tucci, VR Cinzia, ... Canadian journal of neurological sciences 39 (1), 48-51, 2012 | 37 | 2012 |
Autonomic nervous system abnormalities in spinocerebellar ataxia type 2: a cardiovascular neurophysiologic study G De Joanna, A De Rosa, E Salvatore, I Castaldo, N De Luca, R Izzo, ... Journal of the neurological sciences 275 (1-2), 60-63, 2008 | 37 | 2008 |
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy A Filla, G De Michele, S Cocozza, A Patrignani, G Volpe, I Castaldo, ... Neurology 58 (6), 922-928, 2002 | 35 | 2002 |
Analysis of (CAG) n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers B Giovannone, G Sabbadini, L Di Maio, O Calabrese, I Castaldo, ... Human Mutation 10 (6), 458-464, 1997 | 34 | 1997 |
Multimodal electrophysiologic follow-up study in 3 mutated but presymptomatic members of a spinocerebellar ataxia type 1 (SCA1) family M Ragno, AC Perretti, I Castaldo, M Scarcella, S Acciarri, F Manganelli, ... Neurological Sciences 26, 67-71, 2005 | 23 | 2005 |