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| Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease G Casari, M De Fusco, S Ciarmatori, M Zeviani, M Mora, P Fernandez, ... Cell 93 (6), 973-983, 1998 | 969 | 1998 |
| 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 | 623 | 1996 |
| Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, ... Annals of Neurology: Official Journal of the American Neurological …, 1999 | 489 | 1999 |
| 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 | 413 | 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 |
| Sex-related alterations of gut microbiota composition in the BTBR mouse model of autism spectrum disorder L Coretti, C Cristiano, E Florio, G Scala, A Lama, S Keller, M Cuomo, ... Scientific reports 7 (1), 45356, 2017 | 175 | 2017 |
| 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 |
| 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 | 142 | 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 | 141 | 2008 |
| Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia G Coppola, D Marmolino, D Lu, Q Wang, M Cnop, M Rai, F Acquaviva, ... Human molecular genetics 18 (13), 2452-2461, 2009 | 140 | 2009 |
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| Early‐onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q F Palau, G de Michele, JJ Vilchez, M Pandolfo, E Monrós, S Cocozza, ... Annals of Neurology: Official Journal of the American Neurological …, 1995 | 108 | 1995 |
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| 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 | 106 | 2007 |
| Genome-wide mapping of 8-oxo-7, 8-dihydro-2′-deoxyguanosine reveals accumulation of oxidatively-generated damage at DNA replication origins within transcribed long genes of … S Amente, G Di Palo, G Scala, T Castrignanò, F Gorini, S Cocozza, ... Nucleic acids research 47 (1), 221-236, 2019 | 97 | 2019 |
| 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 |
| 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 |
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