Sergio Cocozza

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Antonella MonticelliRicercatore Consiglio Nazionale delle RicercheDirección de correo verificada de ieos.cnr.it
alessandro fillaUniversity Federico II NaplesDirección de correo verificada de unina.it
Michele PinelliUniversità degli Studi di Napoli Federico IIDirección de correo verificada de unina.it
Imma CastaldoDipartimento di Biologia e Patologia Cellulare e Molecolare Università "Federico II" di NapoliDirección de correo verificada de unina.it
Fabio AcquavivaMD, PhD. UOSD Genetica Medica. Pediatria delle Malattie Croniche e Multifattoriali. AORN SantobonoDirección de correo verificada de santobonopausilipon.it
giovanni scalaDepartment of Biology, University of Naples Federico IIDirección de correo verificada de unina.it
mimmo turanoResearcher in Genetics University of NaplesDirección de correo verificada de unina.it
Lucio SantoroDepartment of Neurological Sciences Federico II University of NaplesDirección de correo verificada de unina.it
riccardi gabrieleuniversità Federico IIDirección de correo verificada de unina.it
Giorgio CasariVita-Salute San Raffaele University and San Raffaele Scientific InstituteDirección de correo verificada de hsr.it
Andrea BallabioTelethon Institute of Genetics and MedicineDirección de correo verificada de tigem.it
Ermanno FlorioPrescient MetabiomicsDirección de correo verificada de prescientmetabiomics.com
Roberto AmatoGSKDirección de correo verificada de gsk.com
jean louis mandelprof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHUDirección de correo verificada de igbmc.fr
alexis briceICMDirección de correo verificada de icm-institute.org
Mark PookReader in Biosciences, Brunel UniversityDirección de correo verificada de brunel.ac.uk
Saccà FrancescoAssistant Professor of Neurology - University Federico II NaplesDirección de correo verificada de unina.it
Anna Maria MustiDepartment of Pharmacy and Nutritional Science, University of Calabria, Rende ItalyDirección de correo verificada de unical.it
Antonio PorcelliniFull Professor of General Pathology, Dept. of Biology, Università di Napoli Federico IIDirección de correo verificada de unina.it
Pragna PatelUniversity of Southern CalifornaDirección de correo verificada de usc.edu

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Sergio Cocozza

Professor of Medical Genetics, University of Naples (Italy)

Dirección de correo verificada de unina.it

Genetics Evolutionary Biology Computational Biology Epigenetics


Título Ordenar por citas Ordenar por año Ordenar por título	Citado por Citado por	Año
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	3330	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	980	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	632	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	496	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	428	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	262	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	188	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	161	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	147	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	145	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	144	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	133	2003
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	109	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	108	2019
Frataxin fracas M Cossée, V Campuzano, H Koutnikova, K Fischbeck, JL Mandel, ... Nature genetics 15 (4), 337-338, 1997	108	1997
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	107	1995
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	100	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 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	91	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	90	1997

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