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. UOS 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
jean louis mandelprof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHUDirección de correo verificada de igbmc.fr
Roberto AmatoGSKDirección de correo verificada de gsk.com
alexis briceICMDirección de correo verificada de icm-institute.org
Pragna PatelUniversity of Southern CalifornaDirección de correo verificada de usc.edu
Mark PookReader in Biosciences, Brunel UniversityDirección de correo verificada de brunel.ac.uk
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
Saccà FrancescoAssistant Professor of Neurology - University Federico II NaplesDirección de correo verificada de unina.it

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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	3225	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	967	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	615	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	482	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	410	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	259	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	167	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	159	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	139	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	137	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	135	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	122	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	108	1995
Frataxin fracas M Cossée, V Campuzano, H Koutnikova, K Fischbeck, JL Mandel, ... Nature genetics 15 (4), 337-338, 1997	106	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	100	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	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	89	1998
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	88	2019
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	88	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	87	1997

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