| Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ... Science 271 (5254), 1423-1427, 1996 | 3267 | 1996 |
| The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. A Filla, G De Michele, F Cavalcanti, L Pianese, A Monticelli, ... American journal of human genetics 59 (3), 554, 1996 | 625 | 1996 |
| Increased BDNF promoter methylation in the Wernicke area of suicide subjects S Keller, M Sarchiapone, F Zarrilli, A Videtič, A Ferraro, V Carli, ... Archives of general psychiatry 67 (3), 258-267, 2010 | 414 | 2010 |
| The Friedreich ataxia GAA triplet repeat: premutation and normal alleles L Montermini, E Andermann, M Labuda, A Richter, M Pandolfo, ... Human molecular genetics 6 (8), 1261-1266, 1997 | 263 | 1997 |
| PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia D Marmolino, M Manto, F Acquaviva, P Vergara, A Ravella, A Monticelli, ... Plos one 5 (4), e10025, 2010 | 161 | 2010 |
| A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24. 3 G De Michele, M De Fusco, F Cavalcanti, A Filla, R Marconi, G Volpe, ... The American Journal of Human Genetics 63 (1), 135-139, 1998 | 157 | 1998 |
| 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 | 152 | 1994 |
| Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients I De Biase, A Rasmussen, D Endres, S Al‐Mahdawi, A Monticelli, ... Annals of neurology 61 (1), 55-60, 2007 | 143 | 2007 |
| 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 | 142 | 2008 |
| Frataxin fracas M Cossée, V Campuzano, H Koutnikova, K Fischbeck, JL Mandel, ... Nature genetics 15 (4), 337-338, 1997 | 108 | 1997 |
| Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life I De Biase, A Rasmussen, A Monticelli, S Al-Mahdawi, M Pook, ... Genomics 90 (1), 1-5, 2007 | 107 | 2007 |
| Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers L Pianese, M Turano, MSL Casale, I De Biase, M Giacchetti, A Monticelli, ... Journal of Neurology, Neurosurgery & Psychiatry 75 (7), 1061-1063, 2004 | 97 | 2004 |
| A novel mutation in SACS gene in a family from southern Italy C Criscuolo, S Banfi, M Orio, P Gasparini, A Monticelli, V Scarano, ... Neurology 62 (1), 100-102, 2004 | 94 | 2004 |
| Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with … G De Michele, F Cavalcanti, C Criscuolo, L Pianese, A Monticelli, A Filla, ... Human molecular genetics 7 (12), 1901-1906, 1998 | 91 | 1998 |
| 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 | 90 | 1997 |
| The level of thyroglobulin mRNA is regulated by TSH both in vitro and in vivo VE Avvedimento, D Tramontano, MV Ursini, A Monticelli, R Di Lauro Biochemical and biophysical research communications 122 (1), 472-477, 1984 | 86 | 1984 |
| Nucleotide distance influences co-methylation between nearby CpG sites O Affinito, D Palumbo, A Fierro, M Cuomo, G De Riso, A Monticelli, ... Genomics 112 (1), 144-150, 2020 | 82 | 2020 |
| NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene S Cocozza, A Porcellini, G Riccardi, A Monticelli, G Condorelli, A Ferrara, ... Diabetes 41 (4), 521-526, 1992 | 80 | 1992 |
| Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia LM Pollard, R Sharma, M Gomez, S Shah, MB Delatycki, L Pianese, ... Nucleic acids research 32 (19), 5962-5971, 2004 | 79 | 2004 |
| Broadened Friedreich's ataxia phenotype after gene cloning: minimal GAA expansion causes late-onset spastic ataxia M Ragno, G De Michele, F Cavalcanti, L Pianese, A Monticelli, L Curatola, ... Neurology 49 (6), 1617-1620, 1997 | 76 | 1997 |
Sergio CocozzaProfessor of Medical Genetics, University of Naples (Italy)在 unina.it 的电子邮件经过验证
