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A WHOLE mtDNA NGS APPROACH TO IDENTIFY NOVEL VARIANTS IN PATIENTS AFFECTED BY MITOCHONDRIAL DISEASES

Autor: EV De Marco, L Citrigno, S De Benedittis, A Cerantonio, G Di Palma, R Cittadella

Publikováno v: XXII Congresso della Società Italiana di Genetica Umana, Roma, 13-16/11-2019
info:cnr-pdr/source/autori:EV De Marco; L Citrigno; S De Benedittis; A Cerantonio; G Di Palma; R Cittadella;/congresso_nome:XXII Congresso della Società Italiana di Genetica Umana/congresso_luogo:Roma/congresso_data:13-16%2F11-2019/anno:2019/pagina_da:/pagina_a:/intervallo_pagine

Introduction: Mitochondrial DNA (mtDNA) is a 16.6 kb, double-stranded, circular molecule that contains 37 genes coding for 13 subunits of the respiratory chain plus two rRNAs and 22 tRNAs, required to synthetize them. Mutations in these genes have be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::a906fd399001c2b7c8d347aa56a4ac4a
https://publications.cnr.it/doc/410265

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Gene dosage influences the age at onset of SCA2 in a family from southern Italy

Autor: Ferdinanda Annesi, Patrizia Tarantino, EV De Marco, Maria Liguori, Donatella Civitelli, Sara Carrideo, Nunzio Cutuli, Grazia Annesi, S Giuffrida, I.C. Cirò Candiano, Aldo Quattrone, Patrizia Spadafora

Publikováno v: Clinical genetics 72 (2007): 381–383.
info:cnr-pdr/source/autori:Spadafora P, Annesi G, Liguori M, Tarantino P, Cutuli N, Carrideo S, Ciro Candiano IC, De Marco EV, Civitelli D, Annesi F, Giuffrida S, Quattrone A/titolo:Gene dosage influences the age at onset of SCA2 in a family from southern Italy/doi:/rivista:Clinical genetics/anno:2007/pagina_da:381/pagina_a:383/intervallo_pagine:381–383/volume:72

Spinocerebellar ataxia type 2 (SCA2) is the most common form of autosomal dominant cerebellar ataxia in southern Italy (1). The expansion of a CAG trinucleotide repeat in exon 1 of the SCA2 gene, located on chromosome 12q23-24.1, is responsible for t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e399e87659968b0146424c330d9f2152
https://doi.org/10.1111/j.1399-0004.2007.00868.x

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HOMOZIGOUS DJ-1 MUTATION IN A FAMILY FROM SOUTHERN ITALY WITH AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX

Autor: G. ANNESI, P. TARANTINO, F. ANNESI, D. CIVITELLI, IC CIR CANDIANO, EV DE MARCO, S. CARRIDEO, M. ZAPPIA, A. QUATTRONE, SAVETTIERI, Giovanni, D'AMELIO, Marco, RAGONESE, Paolo, FIERRO, Brigida, PICCOLI, Tommaso, LA BELLA, Vincenzo, PICCOLI, Federico

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::e479cd54f7216dd188681ef3004f51bd
http://hdl.handle.net/10447/31378

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Association study between the LINGO1 gene and Parkinson's disease in the Italian population

Some studies have suggested an overlap of clinical and genetic findings between essential tremor (ET) and Parkinson’s disease (PD). The first genome-wide association study in ET showed a significant association with the rs9652490 SNP of the leucine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c12b76708aba5283d73c511a94a46b3f
http://hdl.handle.net/11386/3097376

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DJ-1 is a Parkinson's disease susceptibility gene in southern Italy

Publikováno v: Clinical genetics (2010).
info:cnr-pdr/source/autori:EV De Marco a, G Annesi a, P Tarantino a, G Nicoletti a,b, D Civitelli a, D Messina a,b, F Annesi a, G Arabia a,b, M Salsone b, F Condino a, F Novellino b, G Provenzano a, FE Rocca a, C Colica b, M Morelli b, V Scornaienchi a, V Greco a, L Giofrè b and A Quattrone a,b/titolo:DJ-1 is a Parkinson's disease susceptibility gene in southern Italy/doi:/rivista:Clinical genetics/anno:2010/pagina_da:/pagina_a:/intervallo_pagine:/volume

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::770696f2c719868660590c519870652c
https://publications.cnr.it/doc/299163

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DJ-1 is a Parkinson's disease susceptibility gene in southern Italy

Autor: Laura Giofrè, Maria Salsone, Francesca Condino, Giuseppe Nicoletti, Giovanni Provenzano, EV De Marco, Vittorio Scornaienchi, Federico Rocca, Aldo Quattrone, Maurizio Morelli, Ferdinanda Annesi, C Colica, Grazia Annesi, Gennarina Arabia, Fabiana Novellino, Valentina Greco, Patrizia Tarantino, Demetrio Messina, Donatella Civitelli

Publikováno v: Clinical genetics 77 (2010): 183–188. doi:10.1111/j.1399-0004.2009.01310.x
info:cnr-pdr/source/autori:De Marco EV, Annesi G, Tarantino P, Nicoletti G, Civitelli D, Messina D, Annesi F, Arabia G, Salsone M, Condino F, Novellino F, Provenzano G, Rocca FE, Colica C, Morelli M, Scornaienchi V, Greco V, Giofrè L, Quattrone A./titolo:DJ-1 is a Parkinson's disease susceptibility gene in southern Italy./doi:10.1111%2Fj.1399-0004.2009.01310.x/rivista:Clinical genetics/anno:2010/pagina_da:183/pagina_a:188/intervallo_pagine:183–188/volume:77

Mutations in the gene DJ-1 have been shown to be a rare cause of early-onset Parkinson's disease (EOPD). Since DJ-1 mutations have been found in patients with Parkinson's disease (PD) from southern Italy, we aimed to investigate whether polymorphisms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034f402cd7a6f7460007fd163e6a4383
https://pubmed.ncbi.nlm.nih.gov/19968671

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LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease

Autor: Francesca Condino, I.C. Cirò Candiano, Aldo Quattrone, Sara Carrideo, Grazia Annesi, Ferdinanda Annesi, Maurizio Morelli, S D’Asero, Sandra Paglionico, Patrizia Tarantino, Donatella Civitelli, EV De Marco, Pierfrancesco Pugliese, Giuseppe Nicoletti, Federico Rocca, Patrizia Spadafora

Publikováno v: Clinical genetics 71 (2007): 367–370. doi:10.1111/j.1399-0004.2007.00771.x
info:cnr-pdr/source/autori:D. Civitelli; P. Tarantino; G. Nicoletti; I.C. Cirò Candiano; F. Annesi; E.V. De Marco; S. Carrideo; F.E. Rocca; F. Condino; P. Spadafora; P. Pugliese; S. D'Asero; M. Morelli; S. Paglionico; G. Annesi;A. Quattrone./titolo:LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease/doi:10.1111%2Fj.1399-0004.2007.00771.x/rivista:Clinical genetics/anno:2007/pagina_da:367/pagina_a:370/intervallo_pagine:367–370/volume:71

Alterations in the leucine-rich kinase 2 gene (LRRK2; MIM *609007) have been shown to cause an autosomal dominant form of PARK8-linked parkinsonism (1, 2). Within this gene, the G6055A mutation (exon 41; Gly2019Ser) represents the most common mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a37333ea376637178043851926ad04bc
https://pubmed.ncbi.nlm.nih.gov/17470139

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Parkin mutations in patients with early-onset parkinsonism

Autor: F.E. Rocca, F. Annesi, P. Tarantino, I.C. Cirò Candiano, S. Carrideo, D. Civitelli, G. Provenzano, EV. De Marco, M. Salsone, G. Annesi

Publikováno v: ASHG 56th Annual Meeting, New Orleans, Louisiana, 2006
info:cnr-pdr/source/autori:F.E. Rocca, F. Annesi, P. Tarantino, I.C. Cirò Candiano, S. Carrideo, D. Civitelli, G. Provenzano, EV. De Marco, M. Salsone, G. Annesi/congresso_nome:ASHG 56th Annual Meeting/congresso_luogo:New Orleans, Louisiana/congresso_data:2006/anno:2006/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::f078354cd4279e95d25abcca3241741b
http://www.cnr.it/prodotto/i/124592

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NACP-REP1 polymorphism is not involved in Parkinson's disease: a case-control study in a population sample from southern Italy

Autor: Grazia Annesi, Aldo Quattrone, EV De Marco, Patrizia Spadafora, I.C. Cirò Candiano, Pier Andrea Serra, Giuseppe Nicoletti, Donatella Civitelli, Angela Aurora Pasqua, Patrizia Tarantino, Sara Carrideo, Ferdinanda Annesi

Publikováno v: Neuroscience letters
351 (2003): 75–78.
info:cnr-pdr/source/autori:Spadafora P,1; Annesi G,1; Pasqua AA,1; Serra P,1; Ciro Candiano IC,1; Carrideo S,1; Tarantino P,1; Civitelli D,1; De Marco EV,1; Nicoletti G,1; Annesi F,1; Quattrone A.1-2/titolo:NACP-REP1 polymorphism is not involved in Parkinson's disease: a case-control study in a population sample from southern Italy./doi:/rivista:Neuroscience letters (Print)/anno:2003/pagina_da:75/pagina_a:78/intervallo_pagine:75–78/volume:351

Contradictory evidence has been reported on the role of the polymorphic mixed dinucleotide repeat (NACP-REP1) of the α-synuclein gene as a risk factor for sporadic Parkinson's disease (PD). In the present study we genotyped the NACP-REP1 polymorphis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c813709027db43714f32bf31cc8f7f
https://pubmed.ncbi.nlm.nih.gov/14583385

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Association study of NACP-REP1 polymorphism and Parkinson's disease

Autor: P Spadafora, G Annesi, P Tarantino, EV De Marco, D Civitelli, S Carrideo, IC Cirò Candiano, PASQUA A, N Romeo, M Caracciolo, G Arabia, P Pugliese, M Zappia, F Annesi, A Quattrone

Publikováno v: Neurological sciences (Testo stamp.) 24 (2003): s-178–s-179.
info:cnr-pdr/source/autori:P Spadafora, G Annesi, P Tarantino, EV De Marco, D Civitelli, S Carrideo, IC Cirò Candiano, PASQUA A, N Romeo, M Caracciolo, G Arabia, P Pugliese, M Zappia, F Annesi, A Quattrone/titolo:Association study of NACP-REP1 polymorphism and Parkinson's disease/doi:/rivista:Neurological sciences (Testo stamp.)/anno:2003/pagina_da:s-178/pagina_a:s-179/intervallo_pagine:s-178–s-179/volume:24

We investigated the segregation of the dinucleotide GT repeat polymorphism in the intron between exons 9 and 10 of the tau gene in 300 patients with Parkinson's disease (PD) and in 197 normal controls. The A3allele was more frequent in cases than in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::a0f6edb3b0906289c53eef1e7a410db6
http://www.cnr.it/prodotto/i/192706

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