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Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach

Autor: L Citrigno, V La Cognata, P Spadafora, A Qualtieri, N Romeo, S De Benedittis, A Cerantonio, M Muglia, M Bellofatto, C Criscuolo, A De Rosa, G De Michele, F Cavalcanti

Publikováno v: XXII Congresso della Società Italiana di Genetica Umana, Roma, 13-16/11/2019
info:cnr-pdr/source/autori:L Citrigno; V La Cognata; P Spadafora; A Qualtieri; N Romeo; S De Benedittis; A Cerantonio; M Muglia; M Bellofatto; C Criscuolo; A De Rosa; G De Michele; F Cavalcanti;/congresso_nome:XXII Congresso della Società Italiana di Genetica Umana/congresso_luogo:Roma/congresso_data:13-16%2F11%2F2019/anno:2019/pagina_da:/pagina_a:/intervallo_pagine

Background: Parkinson's disease (PD) is the second most common neurodegenerative disorder, affecting millions of people. Genome-wide association studies (GWAS) have found >25 genetic risk factors and at least 15 loci directly associated with PD. Rece

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::4f887388c973174ec0406eaa71fe83ae
http://www.cnr.it/prodotto/i/410257

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Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies

Autor: L Citrigno, AM Cerantonio, S De Benedittis, G Di Palma, A Patitucci, F Cavalcanti, M Muglia

Publikováno v: XXII Congresso della Società Italiana di Genetica Umana, Roma, 13-16/11/2019
info:cnr-pdr/source/autori:L Citrigno; AM Cerantonio; S De Benedittis; G Di Palma; A Patitucci; F Cavalcanti; M Muglia;/congresso_nome:XXII Congresso della Società Italiana di Genetica Umana/congresso_luogo:Roma/congresso_data:13-16%2F11%2F2019/anno:2019/pagina_da:/pagina_a:/intervallo_pagine

Introduction:Inherited Peripheral Neuropathies.represent a large group of hereditary diseases that comprises the hereditary motor and sensory neuropathy, more known as Charcot-Marie-Tooth (CMT), hereditary sensory and autonomic neuropathy (HSNA) and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::23d5d00e53d0a42e5263d1f7a67374cf
https://publications.cnr.it/doc/410262

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Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease

Autor: A Cerantonio, S De Benedittis, PL Lanza, M Muglia, F Cavalcanti, P Spadafora, N Romeo, O Gallo, G Di Palma, R Mazzei, A Qualtieri, L Citrigno

Publikováno v: XXII Congresso della Società Italiana di Genetica Umana, Roma, 13-16/11/2019
info:cnr-pdr/source/autori:A Cerantonio; S De Benedittis; PL Lanza; M Muglia; F Cavalcanti; P Spadafora; N Romeo; O Gallo; G Di Palma; R Mazzei; A Qualtieri; L Citrigno;/congresso_nome:XXII Congresso della Società Italiana di Genetica Umana/congresso_luogo:Roma/congresso_data:13-16%2F11%2F2019/anno:2019/pagina_da:/pagina_a:/intervallo_pagine
Journal of the neurological sciences (2021).
info:cnr-pdr/source/autori:A Cerantonio; S De Benedittis; PL Lanza; M Muglia; F Cavalcanti; P Spadafora; N Romeo; O Gallo; G Di Palma; R Mazzei; A Qualtieri; L Citrigno;/titolo:Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease/doi:/rivista:Journal of the neurological sciences/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume

Introduction: Vanishing white matter disease (VWM) is an autosomal recessive leukodystrophy caused by mutations genes encoding the translational initiation factor 2B: EIF2B1-EIFB5. It is a heterogeneous neurological disorder with prominent cerebellar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bdde8a6412d4be4e59c686e51807dc01
https://publications.cnr.it/doc/410250

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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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High-resolution genomic analysis of an amyotrophic lateral sclerosis case in a large spinocerebellar ataxia type 1 family

Autor: G. Morello, M. Guarnaccia, L. Citrigno, V. La Bella, S. Cavallaro, F.L. Conforti

Publikováno v: XXI CONGRESSO NAZIONALE SIGU, Catania, 25/10/2018, 27/10/2018
info:cnr-pdr/source/autori:G. Morello, M. Guarnaccia, L. Citrigno, V. La Bella, S. Cavallaro, F.L. Conforti/congresso_nome:XXI CONGRESSO NAZIONALE SIGU/congresso_luogo:Catania/congresso_data:25%2F10%2F2018, 27%2F10%2F2018/anno:2018/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::6f12ef7550c132011d8db8a486f57d51
https://publications.cnr.it/doc/393892

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Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family

Autor: M. Muglia, C. Russo, L. Citrigno, S Züchner, M Gonzalez, A. Patitucci, R. Mazzei, FL. Conforti, O. Gallo, U Aguglia, A. Magariello

Publikováno v: 56° CONGRESSO NAZIONALE SNO, CATANIA, 18-21/05/2016
info:cnr-pdr/source/autori:M. Muglia, C. Russo, L. Citrigno, S Züchner, M Gonzalez, A. Patitucci, R. Mazzei, FL. Conforti, O. Gallo, U Aguglia and A. Magariello/congresso_nome:56° CONGRESSO NAZIONALE SNO/congresso_luogo:CATANIA/congresso_data:18-21%2F05%2F2016/anno:2016/pagina_da:/pagina_a:/intervallo_pagine

Hereditary spastic paraplegia (HSP, MIM 18260) comprises a group of inherited neurodegenerative disorders that are characterized by progressive spasticity and weakness of lower extremities, due to a length dependent dying back degeneration of cortico

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::8f403e09bb533c66b08502ebcefdf69b
http://www.cnr.it/prodotto/i/368928

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Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC

Autor: Magariello, L. Citrigno, V.Sofia, A. Patitucci, FL. Conforti, R. Mazzei, C. Ungaro, I. Pappalardo, M. Zappia, M. Gonzalez, S. Zuchner, M. Muglia

Publikováno v: European journal of human genetics (Online) (2014).
info:cnr-pdr/source/autori:Magariello, L. Citrigno, V.Sofia, A. Patitucci, FL. Conforti, R. Mazzei, C. Ungaro, I. Pappalardo, M. Zappia, M. Gonzalez, S. Zuchner and M. Muglia/titolo:Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC/doi:/rivista:European journal of human genetics (Online)/anno:2014/pagina_da:/pagina_a:/intervallo_pagine:/volume

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::a10b7c1647343364b94fe34474b0629d
http://www.cnr.it/prodotto/i/302573

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