Sergio Cocozza

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

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Sergio Cocozza

Professor of Medical Genetics, University of Naples (Italy)

Verifierad e-postadress på unina.it

Genetics Evolutionary Biology Computational Biology Epigenetics


Titel Sortera efter citat Sortera efter år Sortera efter titel	Citeras av Citeras av	År
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	3321	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	981	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	634	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	497	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	423	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	267	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	183	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	160	1998
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	146	2009
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	146	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	143	2007
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	131	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	110	2007
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	109	1995
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
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	92	1998
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	90	2020
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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