Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Journal of neurology 2017-09, Vol.264 (9), p.2021-2023
Hauptverfasser: Scarlato, Marina, Citterio, Andrea, Barbieri, Alessandra, Godi, Claudia, Panzeri, Elena, Bassi, Maria Teresa
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 2023
container_issue 9
container_start_page 2021
container_title Journal of neurology
container_volume 264
creator Scarlato, Marina
Citterio, Andrea
Barbieri, Alessandra
Godi, Claudia
Panzeri, Elena
Bassi, Maria Teresa
description
doi_str_mv 10.1007/s00415-017-8558-0
format Article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_journals_1936128119</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1936128119</sourcerecordid><originalsourceid>FETCH-LOGICAL-c339t-73b682d73cd47ce276ad971752ee881226025e80358d0e62135b59a38c8e50d83</originalsourceid><addsrcrecordid>eNp1kEFLAzEQhYMoWqs_wIsEPK9Oks1u9liK1oKgoJ5DujttI91Ek91q_fWmVMWLp8cwb97MfIScMbhkAOVVBMiZzICVmZJSZbBHBiwXPGO5rPbJAEQOmRQyPyLHMb4AgEqNQ3LEVSk5F2pA7PWHb5FGfOvR1dYtaMA1mlWkhjq_xhVd-tZ_bha-j7TtO9NZ76h1dDR-EIIu0OG26pZI5zbEjk47s7LG0blp7WpD3223pI8PE85OyME85eLptw7J88310_g2u7ufTMeju6wWouqyUswKxZtS1E1e1sjLwjRVydK9iEoxzgvgEhUIqRrAgjMhZ7IyQtUKJTRKDMnFLvc1-PRU7PSL74NLKzWrRMG4YkmHhO1cdfAxBpzr12BbEzaagd7C1Tu4OsHVW7ga0sz5d3I_a7H5nfihmQx8Z4ip5RYY_qz-N_ULYUuCpg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1936128119</pqid></control><display><type>article</type><title>Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21</title><source>SpringerLink Journals - AutoHoldings</source><creator>Scarlato, Marina ; Citterio, Andrea ; Barbieri, Alessandra ; Godi, Claudia ; Panzeri, Elena ; Bassi, Maria Teresa</creator><creatorcontrib>Scarlato, Marina ; Citterio, Andrea ; Barbieri, Alessandra ; Godi, Claudia ; Panzeri, Elena ; Bassi, Maria Teresa</creatorcontrib><identifier>ISSN: 0340-5354</identifier><identifier>EISSN: 1432-1459</identifier><identifier>DOI: 10.1007/s00415-017-8558-0</identifier><identifier>PMID: 28752238</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Letter to the Editors ; Medicine ; Medicine &amp; Public Health ; Neurology ; Neuroradiology ; Neurosciences</subject><ispartof>Journal of neurology, 2017-09, Vol.264 (9), p.2021-2023</ispartof><rights>Springer-Verlag GmbH Germany 2017</rights><rights>Journal of Neurology is a copyright of Springer, 2017.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c339t-73b682d73cd47ce276ad971752ee881226025e80358d0e62135b59a38c8e50d83</citedby><cites>FETCH-LOGICAL-c339t-73b682d73cd47ce276ad971752ee881226025e80358d0e62135b59a38c8e50d83</cites><orcidid>0000-0003-1060-8207</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00415-017-8558-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00415-017-8558-0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28752238$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Scarlato, Marina</creatorcontrib><creatorcontrib>Citterio, Andrea</creatorcontrib><creatorcontrib>Barbieri, Alessandra</creatorcontrib><creatorcontrib>Godi, Claudia</creatorcontrib><creatorcontrib>Panzeri, Elena</creatorcontrib><creatorcontrib>Bassi, Maria Teresa</creatorcontrib><title>Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21</title><title>Journal of neurology</title><addtitle>J Neurol</addtitle><addtitle>J Neurol</addtitle><subject>Letter to the Editors</subject><subject>Medicine</subject><subject>Medicine &amp; Public Health</subject><subject>Neurology</subject><subject>Neuroradiology</subject><subject>Neurosciences</subject><issn>0340-5354</issn><issn>1432-1459</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kEFLAzEQhYMoWqs_wIsEPK9Oks1u9liK1oKgoJ5DujttI91Ek91q_fWmVMWLp8cwb97MfIScMbhkAOVVBMiZzICVmZJSZbBHBiwXPGO5rPbJAEQOmRQyPyLHMb4AgEqNQ3LEVSk5F2pA7PWHb5FGfOvR1dYtaMA1mlWkhjq_xhVd-tZ_bha-j7TtO9NZ76h1dDR-EIIu0OG26pZI5zbEjk47s7LG0blp7WpD3223pI8PE85OyME85eLptw7J88310_g2u7ufTMeju6wWouqyUswKxZtS1E1e1sjLwjRVydK9iEoxzgvgEhUIqRrAgjMhZ7IyQtUKJTRKDMnFLvc1-PRU7PSL74NLKzWrRMG4YkmHhO1cdfAxBpzr12BbEzaagd7C1Tu4OsHVW7ga0sz5d3I_a7H5nfihmQx8Z4ip5RYY_qz-N_ULYUuCpg</recordid><startdate>20170901</startdate><enddate>20170901</enddate><creator>Scarlato, Marina</creator><creator>Citterio, Andrea</creator><creator>Barbieri, Alessandra</creator><creator>Godi, Claudia</creator><creator>Panzeri, Elena</creator><creator>Bassi, Maria Teresa</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><orcidid>https://orcid.org/0000-0003-1060-8207</orcidid></search><sort><creationdate>20170901</creationdate><title>Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21</title><author>Scarlato, Marina ; Citterio, Andrea ; Barbieri, Alessandra ; Godi, Claudia ; Panzeri, Elena ; Bassi, Maria Teresa</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c339t-73b682d73cd47ce276ad971752ee881226025e80358d0e62135b59a38c8e50d83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Letter to the Editors</topic><topic>Medicine</topic><topic>Medicine &amp; Public Health</topic><topic>Neurology</topic><topic>Neuroradiology</topic><topic>Neurosciences</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Scarlato, Marina</creatorcontrib><creatorcontrib>Citterio, Andrea</creatorcontrib><creatorcontrib>Barbieri, Alessandra</creatorcontrib><creatorcontrib>Godi, Claudia</creatorcontrib><creatorcontrib>Panzeri, Elena</creatorcontrib><creatorcontrib>Bassi, Maria Teresa</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><jtitle>Journal of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Scarlato, Marina</au><au>Citterio, Andrea</au><au>Barbieri, Alessandra</au><au>Godi, Claudia</au><au>Panzeri, Elena</au><au>Bassi, Maria Teresa</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21</atitle><jtitle>Journal of neurology</jtitle><stitle>J Neurol</stitle><addtitle>J Neurol</addtitle><date>2017-09-01</date><risdate>2017</risdate><volume>264</volume><issue>9</issue><spage>2021</spage><epage>2023</epage><pages>2021-2023</pages><issn>0340-5354</issn><eissn>1432-1459</eissn><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>28752238</pmid><doi>10.1007/s00415-017-8558-0</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0003-1060-8207</orcidid></addata></record>
fulltext fulltext
identifier ISSN: 0340-5354
ispartof Journal of neurology, 2017-09, Vol.264 (9), p.2021-2023
issn 0340-5354
1432-1459
language eng
recordid cdi_proquest_journals_1936128119
source SpringerLink Journals - AutoHoldings
subjects Letter to the Editors
Medicine
Medicine & Public Health
Neurology
Neuroradiology
Neurosciences
title Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-21T08%3A54%3A07IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Exome%20sequencing%20reveals%20a%20novel%20homozygous%20mutation%20in%20ACP33%20gene%20in%20the%20first%20Italian%20family%20with%20SPG21&rft.jtitle=Journal%20of%20neurology&rft.au=Scarlato,%20Marina&rft.date=2017-09-01&rft.volume=264&rft.issue=9&rft.spage=2021&rft.epage=2023&rft.pages=2021-2023&rft.issn=0340-5354&rft.eissn=1432-1459&rft_id=info:doi/10.1007/s00415-017-8558-0&rft_dat=%3Cproquest_cross%3E1936128119%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1936128119&rft_id=info:pmid/28752238&rfr_iscdi=true