Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias
The polyglutamine spinocerebellar ataxias (SCAs) constitute a clinically and genetically heterogeneous group of rare late-onset neurodegenerative disorders, caused by CAG expansions in the coding region of the respective genes. Given their considerable clinical overlapping, differential diagnosis re...
Saved in:
Published in | Journal of molecular neuroscience Vol. 58; no. 1; pp. 83 - 87 |
---|---|
Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
Springer US
2016
Springer Nature B.V |
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | The polyglutamine spinocerebellar ataxias (SCAs) constitute a clinically and genetically heterogeneous group of rare late-onset neurodegenerative disorders, caused by CAG expansions in the coding region of the respective genes. Given their considerable clinical overlapping, differential diagnosis relies on molecular testing. Laboratory best practice guidelines for molecular genetic testing of the SCAs were released in 2010 by the European Molecular Genetics Quality Network, following the recognition of gross genotyping errors by some diagnostic laboratories. The main goal of this study was to verify the existence of inter-laboratorial consistency comparing genotypes for SCA1, SCA2, SCA3, SCA6 and SCA7 obtained by independent diagnostic laboratories. The individual impact of different methodological issues on the genotype for the several SCAs was also analysed. Four international collaborative diagnostic laboratories provided 79 samples and the respective SCA genotypes. Samples were genotyped in-house for all SCAs using an independent methodology; comparison of the allele size obtained with the one provided by the collaborative laboratories was performed. Globally, no significant differences were identified, a result which could be reflecting the fulfilment of recommendations for the molecular testing of SCAs and demonstrating an improvement in genotyping accuracy. |
---|---|
AbstractList | The polyglutamine spinocerebellar ataxias (SCAs) constitute a clinically and genetically heterogeneous group of rare late-onset neurodegenerative disorders, caused by CAG expansions in the coding region of the respective genes. Given their considerable clinical overlapping, differential diagnosis relies on molecular testing. Laboratory best practice guidelines for molecular genetic testing of the SCAs were released in 2010 by the European Molecular Genetics Quality Network, following the recognition of gross genotyping errors by some diagnostic laboratories. The main goal of this study was to verify the existence of inter-laboratorial consistency comparing genotypes for SCA1, SCA2, SCA3, SCA6 and SCA7 obtained by independent diagnostic laboratories. The individual impact of different methodological issues on the genotype for the several SCAs was also analysed. Four international collaborative diagnostic laboratories provided 79 samples and the respective SCA genotypes. Samples were genotyped in-house for all SCAs using an independent methodology; comparison of the allele size obtained with the one provided by the collaborative laboratories was performed. Globally, no significant differences were identified, a result which could be reflecting the fulfilment of recommendations for the molecular testing of SCAs and demonstrating an improvement in genotyping accuracy. |
Author | Lima, Manuela Bettencourt, Bruno Filipe Houlden, Henry Raposo, Mafalda Bettencourt, Conceição Santos, Cristina Milà, Montserrat Bruges-Armas, Jácome Ramos, Amanda Cisneros, Bulmaro Magaña, Jonathan J. |
Author_xml | – sequence: 1 givenname: Amanda surname: Ramos fullname: Ramos, Amanda email: amanda.ramos.reche@gmail.com organization: Department of Biology/CIRN, University of the Azores, Institute for Molecular and Cell Biology (IBMC), University of Porto, Instituto de Investigação e Inovação em Saúde, University of Porto – sequence: 2 givenname: Mafalda surname: Raposo fullname: Raposo, Mafalda organization: Department of Biology/CIRN, University of the Azores, Institute for Molecular and Cell Biology (IBMC), University of Porto, Instituto de Investigação e Inovação em Saúde, University of Porto – sequence: 3 givenname: Montserrat surname: Milà fullname: Milà, Montserrat organization: Department of Biochemistry and Molecular Genetics, Hospital Clínic and IDIBAPS – sequence: 4 givenname: Conceição surname: Bettencourt fullname: Bettencourt, Conceição organization: Department of Molecular Neuroscience, UCL Institute of Neurology – sequence: 5 givenname: Henry surname: Houlden fullname: Houlden, Henry organization: Department of Molecular Neuroscience, UCL Institute of Neurology – sequence: 6 givenname: Bulmaro surname: Cisneros fullname: Cisneros, Bulmaro organization: Department of Genetics and Molecular Biology, Center of Research and Advanced Studies (CINVESTAV-IPN) – sequence: 7 givenname: Jonathan J. surname: Magaña fullname: Magaña, Jonathan J. organization: Laboratory of Genomic Medicine, Department of Genetics, National Rehabilitation Institute (INR) – sequence: 8 givenname: Bruno Filipe surname: Bettencourt fullname: Bettencourt, Bruno Filipe organization: Institute for Molecular and Cell Biology (IBMC), University of Porto, Instituto de Investigação e Inovação em Saúde, University of Porto, Hospital de Santo Espírito da Ilha Terceira, SEEBMO – sequence: 9 givenname: Jácome surname: Bruges-Armas fullname: Bruges-Armas, Jácome organization: Institute for Molecular and Cell Biology (IBMC), University of Porto, Instituto de Investigação e Inovação em Saúde, University of Porto, Hospital de Santo Espírito da Ilha Terceira, SEEBMO – sequence: 10 givenname: Cristina surname: Santos fullname: Santos, Cristina organization: Unitat d’Antropologia Biològica, Universitat Autònoma de Barcelona – sequence: 11 givenname: Manuela surname: Lima fullname: Lima, Manuela organization: Department of Biology/CIRN, University of the Azores, Institute for Molecular and Cell Biology (IBMC), University of Porto, Instituto de Investigação e Inovação em Saúde, University of Porto |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26454745$$D View this record in MEDLINE/PubMed |
BookMark | eNp1kEtP3DAUha2KqgzQH8CmstS1wU78yCzRtDwkUCsB3Vo3zs3UKGNPbUdqFv3vZDSAumF1F-c750rfETkIMSAhp4KfCc7NeRYVrwXjQjGupWbTB7IQSi2ZEFofkAVvloo1eqkPyVHOT5xXQormEzmstFTSSLUg_35h8r13UHwMNPb0JhRMbIA2JigxeRjoFYZYpq0Pa7qKIftcMLiJ-kDLb6R3cUA3DpDoNw_rEOd8t_MzDtN6GAtsfEB6P7ejw4QtDjv0osBfD_mEfOxhyPj55R6Tx8vvD6trdvvj6mZ1cctcbarCurYGw7vK9Bp7rDowSvKG66XUbVM5pTrTSAeSy1pAV7fCKQeKo4RaSpRtfUy-7ne3Kf4ZMRf7FMcU5pdWGC20UtzImRJ7yqWYc8LebpPfQJqs4HYn3O6F21m43Qm309z58rI8thvs3hqvhmeg2gN5jsIa03-v3119BuofkEI |
CitedBy_id | crossref_primary_10_1016_j_jmoldx_2020_03_003 crossref_primary_10_1159_000517213 |
Cites_doi | 10.1038/ejhg.2008.29 10.1038/ejhg.2010.10 10.1038/gim.2013.28 10.1038/ejhg.2010.8 |
ContentType | Journal Article |
Copyright | Springer Science+Business Media New York 2015 Springer Science+Business Media New York 2016 |
Copyright_xml | – notice: Springer Science+Business Media New York 2015 – notice: Springer Science+Business Media New York 2016 |
DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION 3V. 7QL 7QR 7T7 7TK 7U9 7X7 7XB 88E 88G 8AO 8FD 8FI 8FJ 8FK ABUWG AFKRA AZQEC BENPR C1K CCPQU DWQXO FR3 FYUFA GHDGH GNUQQ H94 K9. M0S M1P M2M M7N P64 PQEST PQQKQ PQUKI PRINS PSYQQ Q9U |
DOI | 10.1007/s12031-015-0646-y |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef ProQuest Central (Corporate) Bacteriology Abstracts (Microbiology B) Chemoreception Abstracts Industrial and Applied Microbiology Abstracts (Microbiology A) Neurosciences Abstracts Virology and AIDS Abstracts Health & Medical Complete (ProQuest Database) ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) Psychology Database (Alumni) ProQuest Pharma Collection Technology Research Database Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central ProQuest Central Essentials ProQuest Central Environmental Sciences and Pollution Management ProQuest One Community College ProQuest Central Engineering Research Database Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student AIDS and Cancer Research Abstracts ProQuest Health & Medical Complete (Alumni) Health & Medical Collection (Alumni Edition) PML(ProQuest Medical Library) Psychology Database (ProQuest) Algology Mycology and Protozoology Abstracts (Microbiology C) Biotechnology and BioEngineering Abstracts ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic ProQuest One Academic UKI Edition ProQuest Central China ProQuest One Psychology ProQuest Central Basic |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef ProQuest One Psychology ProQuest Central Student Technology Research Database ProQuest Central Essentials ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) ProQuest One Community College ProQuest Pharma Collection ProQuest Central China Environmental Sciences and Pollution Management ProQuest Central Health Research Premium Collection Health and Medicine Complete (Alumni Edition) ProQuest Central Korea Bacteriology Abstracts (Microbiology B) Algology Mycology and Protozoology Abstracts (Microbiology C) AIDS and Cancer Research Abstracts Chemoreception Abstracts Industrial and Applied Microbiology Abstracts (Microbiology A) ProQuest Medical Library (Alumni) Virology and AIDS Abstracts ProQuest Central Basic ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) ProQuest Psychology Journals (Alumni) Neurosciences Abstracts ProQuest Hospital Collection (Alumni) Biotechnology and BioEngineering Abstracts ProQuest Health & Medical Complete ProQuest Medical Library ProQuest Psychology Journals ProQuest One Academic UKI Edition Engineering Research Database ProQuest One Academic ProQuest Central (Alumni) |
DatabaseTitleList | MEDLINE ProQuest One Psychology |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database – sequence: 3 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Anatomy & Physiology Biology |
EISSN | 1559-1166 |
EndPage | 87 |
ExternalDocumentID | 3939505091 10_1007_s12031_015_0646_y 26454745 |
Genre | Research Support, Non-U.S. Gov't Journal Article |
GeographicLocations | Mexico Azores Portugal Terceira Spain |
GeographicLocations_xml | – name: Azores – name: Mexico – name: Spain – name: Portugal – name: Terceira |
GrantInformation_xml | – fundername: Medical Research Council grantid: G108/638 – fundername: Medical Research Council grantid: MR/J004758/1 – fundername: Medical Research Council grantid: G1001253 – fundername: Medical Research Council grantid: G0802760 |
GroupedDBID | --- -4W -56 -5G -BR -EM -Y2 -~C .86 .GJ .VR 06C 06D 0R~ 0VX 0VY 1N0 2.D 203 28- 29L 29~ 2J2 2JN 2JY 2KG 2KM 2LR 2VQ 2~H 30V 3SX 3V. 4.4 406 408 40D 40E 44B 53G 5GY 5RE 5VS 67N 6NX 78A 7X7 88E 8AO 8FI 8FJ 8TC 8UJ 95- 95. 95~ 96X AAAVM AABHQ AABYN AAFGU AAHNG AAIAL AAJKR AANXM AANZL AARHV AARTL AATNV AATVU AAUYE AAWCG AAYFA AAYIU AAYQN AAYTO ABDZT ABECU ABELW ABFGW ABFTV ABHLI ABHQN ABJNI ABJOX ABKAS ABKCH ABMNI ABMQK ABNWP ABPLI ABQBU ABSXP ABTEG ABTHY ABTKH ABTMW ABUWG ABWNU ABXPI ACBMV ACBRV ACBXY ACBYP ACCUX ACGFS ACHSB ACHXU ACIGE ACIPQ ACIWK ACKNC ACMDZ ACMLO ACOKC ACOMO ACPRK ACSNA ACTTH ACVWB ACWMK ADBBV ADHHG ADHIR ADINQ ADKNI ADKPE ADMDM ADOAH ADOXG ADRFC ADTPH ADURQ ADYFF ADYPR ADZKW AEBTG AEEQQ AEFTE AEGAL AEGNC AEJHL AEJRE AEKMD AENEX AEOHA AEPYU AESKC AESTI AETLH AEVLU AEVTX AEXYK AFEXP AFGCZ AFKRA AFLOW AFNRJ AFQWF AFRAH AFWTZ AFZKB AGAYW AGDGC AGGBP AGGDS AGJBK AGMZJ AGQMX AGWIL AGWZB AGYKE AHAVH AHBYD AHKAY AHMBA AHSBF AIAKS AIIXL AILAN AIMYW AITGF AJBLW AJDOV AJRNO AJZVZ AKMHD AKQUC ALMA_UNASSIGNED_HOLDINGS ALWAN AMKLP AMXSW AMYLF AMYQR AOCGG AOSHJ ARMRJ ASPBG AVWKF AXYYD AZFZN AZQEC B-. BA0 BBWZM BDATZ BENPR BGNMA BPHCQ BVXVI CAG CCPQU COF CS3 CSCUP DDRTE DNIVK DPUIP DU5 DWQXO EBD EBLON EBS EIOEI EJD EMOBN ESBYG F5P FEDTE FERAY FFXSO FIGPU FINBP FNLPD FRRFC FSGXE FWDCC FYUFA G-Y G-Z GGCAI GGRSB GJIRD GNUQQ GNWQR GQ6 GQ7 HF~ HG6 HMCUK HMJXF HRMNR HVGLF HZ~ IJ- IKXTQ ITM IWAJR I~X I~Z J-C J0Z JBSCW JZLTJ KOV LLZTM M1P M2M M4Y MA- MVM N2Q N9A NDZJH NF0 NPVJJ NQJWS NU0 O9- O93 O9G O9I O9J OVD P19 P2P PF0 PQQKQ PROAC PSQYO PSYQQ PT4 PT5 Q2X QOK QOR QOS R4E R89 R9I RHV RNI RNS ROL RPX RSV RZK S16 S1Z S26 S27 S28 S3A S3B SAP SBL SBY SCLPG SDH SDM SHX SISQX SNE SNPRN SNX SOHCF SOJ SPISZ SRMVM SSLCW SSXJD STPWE SV3 SZN T13 T16 TEORI TSG TUC TUS U2A U9L UG4 UKHRP UNUBA UOJIU UTJUX UZXMN VC2 VFIZW W48 WK6 WK8 YLTOR Z7U Z7W Z82 Z83 Z87 Z8O Z8V Z91 ZMTXR ZOVNA ~A9 ~EX AACDK AAEOY AAJBT AAQLM AASML ABAKF ACAOD ACDTI ACZOJ AEFQL AEMSY AFBBN AGQEE AGRTI AIGIU ALIPV CGR CUY CVF ECM EIF H13 NPM SJYHP AAYXX CITATION 7QL 7QR 7T7 7TK 7U9 7XB 8FD 8FK C1K FR3 H94 K9. M7N P64 PQEST PQUKI PRINS Q9U |
ID | FETCH-LOGICAL-c372t-db3a70d27f6efe2da7540806946b82c55d784ca40431ad3b1c5ca50e4a344e4b3 |
IEDL.DBID | 7X7 |
ISSN | 0895-8696 |
IngestDate | Fri Sep 13 09:26:50 EDT 2024 Thu Sep 12 17:09:00 EDT 2024 Sat Sep 28 08:29:39 EDT 2024 Sat Dec 16 12:03:21 EST 2023 |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 1 |
Keywords | SCA Molecular testing Fragment analysis Neurodegenerative disorders |
Language | English |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c372t-db3a70d27f6efe2da7540806946b82c55d784ca40431ad3b1c5ca50e4a344e4b3 |
PMID | 26454745 |
PQID | 1761655074 |
PQPubID | 326248 |
PageCount | 5 |
ParticipantIDs | proquest_journals_1761655074 crossref_primary_10_1007_s12031_015_0646_y pubmed_primary_26454745 springer_journals_10_1007_s12031_015_0646_y |
PublicationCentury | 2000 |
PublicationDate | 1-2016 2016-Jan 2016-1-00 20160101 |
PublicationDateYYYYMMDD | 2016-01-01 |
PublicationDate_xml | – year: 2016 text: 1-2016 |
PublicationDecade | 2010 |
PublicationPlace | New York |
PublicationPlace_xml | – name: New York – name: United States – name: Totowa |
PublicationSubtitle | MN |
PublicationTitle | Journal of molecular neuroscience |
PublicationTitleAbbrev | J Mol Neurosci |
PublicationTitleAlternate | J Mol Neurosci |
PublicationYear | 2016 |
Publisher | Springer US Springer Nature B.V |
Publisher_xml | – name: Springer US – name: Springer Nature B.V |
References | Bettencourt, C., Lima, M., & Yébenes, J. (2012) The Increasing Number of SCA Loci: Contributes from Classical Genetics and New Genomics. In E. A. a. T. Honrado (Ed.), Neuropathology: New Research (pp. 75–92): Nova Science Publishers, Inc SequeirosJ.MartindaleJ.SenecaS.GiuntiP.KamarainenO.VolpiniV.EMQN best practice guidelines for molecular genetic testing of SCAsEur J Hum Genet2010181111731176298747510.1038/ejhg.2010.820179742 SequeirosJ.SenecaS.MartindaleJ.Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxiasEur J Hum Genet2010181111881195298748010.1038/ejhg.2010.1020179748 WalshM. J.Cooper-KnockJ.DoddJ. E.StopfordM. J.MihaylovS. R.KirbyJ.Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the artNeuropathol Appl Neurobiol2014 JayadevS.BirdT. D.Hereditary ataxias: overviewGenet Med201315967368310.1038/gim.2013.281:CAS:528:DC%2BC3sXhsVWru77M23538602 SenecaS.MorrisM. A.PattonS.EllesR.SequeirosJ.Experience and outcome of 3 years of a european EQA scheme for genetic testing of the spinocerebellar ataxiasEur J Hum Genet200816891392010.1038/ejhg.2008.291:CAS:528:DC%2BD1cXovV2ntbg%3D18301445 IBM Corp. Released 2012. IBM SPSS Statistics for Windows, V. A., NY: IBM Corp M. J. Walsh (646_CR7) 2014 S. Jayadev (646_CR3) 2013; 15 J. Sequeiros (646_CR6) 2010; 18 646_CR1 646_CR2 S. Seneca (646_CR4) 2008; 16 J. Sequeiros (646_CR5) 2010; 18 |
References_xml | – ident: 646_CR2 – ident: 646_CR1 – volume: 16 start-page: 913 issue: 8 year: 2008 ident: 646_CR4 publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2008.29 contributor: fullname: S. Seneca – volume: 18 start-page: 1188 issue: 11 year: 2010 ident: 646_CR6 publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2010.10 contributor: fullname: J. Sequeiros – volume: 15 start-page: 673 issue: 9 year: 2013 ident: 646_CR3 publication-title: Genet Med doi: 10.1038/gim.2013.28 contributor: fullname: S. Jayadev – volume: 18 start-page: 1173 issue: 11 year: 2010 ident: 646_CR5 publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2010.8 contributor: fullname: J. Sequeiros – year: 2014 ident: 646_CR7 publication-title: Neuropathol Appl Neurobiol contributor: fullname: M. J. Walsh |
SSID | ssj0021418 |
Score | 2.1631908 |
Snippet | The polyglutamine spinocerebellar ataxias (SCAs) constitute a clinically and genetically heterogeneous group of rare late-onset neurodegenerative disorders,... |
SourceID | proquest crossref pubmed springer |
SourceType | Aggregation Database Index Database Publisher |
StartPage | 83 |
SubjectTerms | Ataxins - genetics Automation Biology Biomedical and Life Sciences Biomedicine Capillary electrophoresis Cell Biology Collaboration Genetic testing Genetic Testing - standards Genetics Genotype Genotyping Techniques - standards Humans Laboratories Neurochemistry Neurology Neurosciences Observer Variation Peptides - genetics Polymers Proteomics Spinocerebellar Ataxias - genetics Trinucleotide Repeat Expansion - genetics |
SummonAdditionalLinks | – databaseName: SpringerLINK - Czech Republic Consortium dbid: AGYKE link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1LT8MwDLZgXLjwfoyXckAcQJnWNEnLcYINBAIh8RCcqrRN0QS0iBaJIvHfcdJ2gAYHLu0lD9V26s92bANsqyRhKpYx7ap9QfEkChqy2MeHYjxEy0fadLGzc3l8zU9uxe0EsJHrIn3oNBFJ-6P-ynVjKH9o-QqKWlTSchKmhOlK3YKp3tHdaX9kZjncevW6Pm7uy33ZxDJ_W-SnNhqDmGPhUat1BrNVJmBuixWayyYPndci7ETv46Uc__FBczBTg1DSq6RmHiZ0ugCLvRQN8KeS7BB7LdT62xfh4wZlNKk9eyRLiPUh0lp4MiO_5EinWVGazCtiG4DmBoiXZJgShJfkrOnASw6re33D3KxzkT2W9yj36gmBLrnE2ahKX7QJhODQXqHehipfgutB_-rgmNY9G2jkeqygcegqrxszL5E60SxWHkJC32TXytBnkRCx5_NI2Zo-KnZDJxKmKYPmyuVc89BdhlaapXoVCIIXnaA5xR0VccS1Pr4M-uwmruDSZ23YbXgXPFelOYKvIsyGuAESNzDEDco2bDTcDepTmgeOJx1pCrrxNqxUHB-txGypMy7asNew79vEv7ZZ-9fodZhG_FV7dDagVby86k3EOEW4VQv1J-wj8_Q priority: 102 providerName: Springer Nature |
Title | Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias |
URI | https://link.springer.com/article/10.1007/s12031-015-0646-y https://www.ncbi.nlm.nih.gov/pubmed/26454745 https://www.proquest.com/docview/1761655074/abstract/ |
Volume | 58 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV3dS-QwEB88RbgX8eO8W7_Iw-GDR9htmqT1SaquLh6KqCt7TyVt0mNBW3Ur2Af_dydp6yqiLw2UJi2dX5LfzGRmAH6rLGNKS017aldQnImCJkyHeFGMJ6j5SBcudnomB0N-MhKjGRi0sTD2WGW7JrqFWheptZF3PdS3pU2-xbsqsVaAtOzu3d1TWz_K-lmbYhrfYM5jSCsQ2cFoqnp53Fn6eiF-UCh3ZevfdEF0DIGNKrWguD1LWr3foT7Qzg8uU7cTHS3CQkMhSVTLfAlmTL4MK1GO6vNtRbaJO9TprOXLMF_XmqxW4PkasZY1FjpSZMTZAmkDgsLikBybvCgrG0FFXCHPiSXUFRnnBGkiOW0r6ZLD-nzeeGLHOS9uqv-IX3WLhJVcYm_cEh-MdWjgo1GpnsZq8gOGR_2rgwFtai_Q1A9YSXXiq6CnWZBJkxmmVYDULrRRsjIJWSqEDkKeKpebR2k_8VJhiysYrnzODU_8VZjNi9z8AoIkxGSoFnFPpRz5aYiNZZG9zBdchqwDO-3_ju_qFBvxNJmyFU6MwomtcOKqAxutROJmtk3iKTY68LOW0utIzKUs46IDf1qxven42WvWvn7NOnxH4tSYYjZgtnx4NJtITspky-FuC-ai439_-9ju98_OL_DukEUvognlnQ |
link.rule.ids | 315,786,790,12083,21416,27957,27958,31754,33779,41116,41558,42185,42627,43345,43840,52146,52269,74102,74659 |
linkProvider | ProQuest |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1LT9wwEB7RRahcEK-W5VUfEIdWVncd2wkntLy6LewKtYC4RU7sVCtBAiRI5MB_Z-w4PITaS3KJnSjf2PPNjGcGYEtlGVNaatpTO4LiShQ0YTrCi2I8QctHunSx0VgOz_mvS3HpHW6lP1bZ7oluo9ZFan3k3_tob0tbfIvv3txS2zXKRld9C40PMM0DNFU6ML13OD79_Wxy9bnz8PUi_JBI7sg2rumS5xgKNJrSgqJalrR-q5ne0c13oVKngY7mYc5TRzJosF6AKZMvwtIgR7P5uibbxB3mdF7yRZhpekzWS_B4gTKWec8cKTLifIDUg19Y-SM_TF5Utc2cIq6BZ2mJdE0mOUF6SEZtB11y0JzLm5R2ntPiqv6LcquukaiSPzgaVeGdsYEMfHRQqYeJKpfh_OjwbH9Ifc8FmgYhq6hOAhX2NAszaTLDtAqR0kU2O1YmEUuF0GHEU-Vq8igdJP1U2KYKhquAc8OT4BN08iI3K0CQfJgMzSHeVylHXhrhzbLHXhYILiPWha_t_45vmtIa8UsRZQtOjODEFpy47sJ6i0jsV1kZv8hEFz43KD3PxFypMi668K2F7dXAf71m9f-v-QIfh2ejk_jk5_h4DWaRPHl3zDp0qrt7s4EEpUo2vRQ-AZ1U4h8 |
linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1LT9wwEB5RUKteEI-WbnnUB9RDK4usYzvhhFbAQltASC3V3iInttFKkFASJHLgvzN2HLYItZfkEjtRZuz55uH5ALaVtUxpqWmkdgXFlShoznSKF8V4jp6P9MfFTs_k8QX_PhGTUP9Uh7LKfk_0G7WuChcj3xmivy1d8y2-Y0NZxPnBeO_mD3UMUi7TGug0XsECWsnIsRkkk5nzNeQ-1hel-Emp3JV9htMfo2Oo2uhUC4oGWtL2uY16ATxfJE29LRovwWIAkWTUSX0Z5ky5AqujEh3o65Z8Jr6s08fLV-B1xzbZrsLDb9Q2G2J0pLLERwNpUIPKaSI5MmXVtO4MFfFUnrWD1C2ZlgSBIjntuXTJQVehN63dPOfVVXuJGqyuEbKSnzgajeKtcSkNfHTUqPupqt_Bxfjw1_4xDewLtIgT1lCdxyqJNEusNNYwrRIEd6k7JyvzlBVC6CTlhfLdeZSO82EhHL2C4Srm3PA8fg_zZVWaD0AQhhiLjhEfqoIjQk3x5nBkZGPBZcoG8KX_39lN12Qjm7VTdsLJUDiZE07WDmCjl0gW1ludzbRjAGudlJ5mYr5pGRcD-NqL7a-B_3rNx_-_5hO8QfXLTr6d_ViHt4iiQlxmA-ab2zuziUilybe8Cj4CRn_k5Q |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Verification+of+Inter-laboratorial+Genotyping+Consistency+in+the+Molecular+Diagnosis+of+Polyglutamine+Spinocerebellar+Ataxias&rft.jtitle=Journal+of+molecular+neuroscience&rft.au=Ramos%2C+Amanda&rft.au=Raposo%2C+Mafalda&rft.au=Mil%C3%A0%2C+Montserrat&rft.au=Bettencourt%2C+Concei%C3%A7%C3%A3o&rft.date=2016-01-01&rft.eissn=1559-1166&rft.volume=58&rft.issue=1&rft.spage=83&rft_id=info:doi/10.1007%2Fs12031-015-0646-y&rft_id=info%3Apmid%2F26454745&rft.externalDocID=26454745 |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0895-8696&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0895-8696&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0895-8696&client=summon |