Sergio Cocozza
Sergio Cocozza
Professor of Medical Genetics, University of Naples (Italy)
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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
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
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
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
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
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
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
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
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
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
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
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
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
Frataxin fracas
M Cossée, V Campuzano, H Koutnikova, K Fischbeck, JL Mandel, ...
Nature genetics 15 (4), 337-338, 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
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
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
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
The complete structure of the rat thyroglobulin gene.
AM Musti, EV Avvedimento, C Polistina, VM Ursini, S Obici, L Nitsch, ...
Proceedings of the National Academy of Sciences 83 (2), 323-327, 1986
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
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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