{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:57:31Z","timestamp":1790171851163,"version":"4.1.0"},"reference-count":49,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T00:00:00Z","timestamp":1576022400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"DOI":"10.3389\/fnins.2019.01324","type":"journal-article","created":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T05:03:23Z","timestamp":1576040603000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases"],"prefix":"10.3389","volume":"13","author":[{"given":"Allen Chi-Shing","family":"Yu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aldrin Kay-Yuen","family":"Yim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Yin-Yan","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liz Y. P.","family":"Yuen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wing Chi","family":"Au","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy H. T.","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing-Woei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larry W. L.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent C. T.","family":"Mok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting-Fung","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ho Yin Edwin","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2019,12,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1111\/j.1440-1789.2005.00605.x","article-title":"Overlap between neurodegenerative disorders.","volume":"25","author":"Armstrong","year":"2005","journal-title":"Neuropathology"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks001","article-title":"Summarizing and correcting the GC content bias in high-throughput sequencing.","volume":"40","author":"Benjamini","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"B3","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1038\/ng1934","article-title":"Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.","volume":"39","author":"Bertram","year":"2007","journal-title":"Nat. Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"247.e9","DOI":"10.1016\/j.neurobiolaging.2017.05.009","article-title":"NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.","volume":"57","author":"Blauwendraat","year":"2017","journal-title":"Neurobiol. Aging"},{"key":"B5","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1093\/bib\/bbu001","article-title":"Sequencing technologies and tools for short tandem repeat variation detection.","volume":"16","author":"Cao","year":"2015","journal-title":"Brief. Bioinform."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1340","DOI":"10.1002\/humu.22117","article-title":"Locus-specific mutation databases for neurodegenerative brain diseases.","volume":"33","author":"Cruts","year":"2012","journal-title":"Hum. Mutat."},{"key":"B7","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1111\/j.1399-0004.2012.01927.x","article-title":"Chinese patients with Huntington\u2019s disease initially presenting with spinocerebellar ataxia.","volume":"83","author":"Dong","year":"2013","journal-title":"Clin. Genet."},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-15-467","article-title":"Patterns of sequencing coverage bias revealed by ultra-deep sequencing of vertebrate mitochondria.","volume":"15","author":"Ekblom","year":"2014","journal-title":"BMC Genomics"},{"key":"B9","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1038\/72769","article-title":"ARSACS, a spastic ataxia common in northeastern Qu\u00e9bec, is caused by mutations in a new gene encoding an 11.5-kb ORF.","volume":"24","author":"Engert","year":"2000","journal-title":"Nat. Genet."},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1038\/npjgenmed.2016.32","article-title":"The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.","volume":"1","author":"Farhan","year":"2016","journal-title":"NPJ Genomic Med."},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/S0197-4580(00)82502-6","article-title":"Hereditary lateral sclerosis and Alzheimer disease associated with mutation at codon 261 of the presenilin 1 (PS1) gene.","volume":"21","author":"Farlow","year":"2000","journal-title":"Neurobiol. Aging"},{"key":"B12","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.parkreldis.2019.01.013","article-title":"A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.","volume":"63","author":"Fung","year":"2019","journal-title":"Parkinsonism Relat. Disord."},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.07.038","article-title":"Mutation analysis of patients with neurodegenerative disorders using NeuroX array.","volume":"36","author":"Ghani","year":"2015","journal-title":"Neurobiol. Aging"},{"key":"B14","doi-asserted-by":"publisher","first-page":"873","DOI":"10.3233\/JAD-2010-1292","article-title":"Clinical-genetic correlations in familial Alzheimer\u2019s disease caused by presenilin 1 mutations.","volume":"19","author":"G\u00f3mez-Tortosa","year":"2010","journal-title":"J. Alzheimers Dis."},{"key":"B15","doi-asserted-by":"publisher","first-page":"1554","DOI":"10.1212\/WNL.0000000000000909","article-title":"Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.","volume":"83","author":"Guo","year":"2014","journal-title":"Neurology"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1154","DOI":"10.1101\/gr.135780.111","article-title":"lobSTR: a short tandem repeat profiler for personal genomes.","volume":"22","author":"Gymrek","year":"2012","journal-title":"Genome Res."},{"key":"B17","doi-asserted-by":"publisher","first-page":"D514","DOI":"10.1093\/nar\/gki033","article-title":"Online mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders.","volume":"33","author":"Hamosh","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"B18","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1002\/ana.410400614","article-title":"The clinical phenotype of two missense mutations in the presenilin i gene in Japanese patients.","volume":"40","author":"Ikeda","year":"1996","journal-title":"Ann. Neurol."},{"key":"B19","year":"1997","journal-title":"Orphanet: an Online Database of Rare Diseases and Orphan Drugs."},{"key":"B20","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1111\/j.1468-1331.2008.02230.x","article-title":"A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer\u2019s disease and spastic paraparesis.","volume":"15","author":"Jim\u00e9nez Caballero","year":"2008","journal-title":"Eur. J. Neurol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1002\/humu.23560","article-title":"Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.","volume":"39","author":"Karakaya","year":"2018","journal-title":"Hum. Mutat."},{"key":"B22","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1016\/j.mayocp.2016.09.008","article-title":"Neurology individualized medicine: when to use next-generation sequencing panels.","volume":"92","author":"Klein","year":"2017","journal-title":"Mayo Clin. Proc."},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2016.00092","article-title":"Rare variants in neurodegeneration associated genes revealed by targeted panel sequencing in a German ALS cohort.","volume":"9","author":"Kr\u00fcger","year":"2016","journal-title":"Front. Mol. Neurosci."},{"key":"B24","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1038\/nrg2748","article-title":"Repeat expansion disease: progress and puzzles in disease pathogenesis.","volume":"11","author":"La Spada","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"B25","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1007\/s00415-005-0019-5","article-title":"Clinical phenotypic heterogeneity of Alzheimer\u2019s disease associated with mutations of the presenilin\u20131 gene.","volume":"253","author":"Larner","year":"2006","journal-title":"J. Neurol."},{"key":"B26","doi-asserted-by":"publisher","first-page":"1880","DOI":"10.1001\/jama.2014.14604","article-title":"Clinical exome sequencing for genetic identification of rare mendelian disorders.","volume":"312","author":"Lee","year":"2014","journal-title":"JAMA"},{"key":"B27","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with burrows-wheeler transform.","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"B28","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1111\/j.1399-0004.2012.01895.x","article-title":"Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.","volume":"83","author":"Li","year":"2013","journal-title":"Clin. Genet."},{"key":"B29","doi-asserted-by":"publisher","first-page":"E2393","DOI":"10.1002\/humu.22376","article-title":"dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations.","volume":"34","author":"Liu","year":"2013","journal-title":"Hum. Mutat."},{"key":"B30","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/j.neurobiolaging.2015.12.007","article-title":"Unstable repeat expansions in neurodegenerative diseases: nucleocytoplasmic transport emerges on the scene.","volume":"39","author":"Loureiro","year":"2015","journal-title":"Neurobiol. Aging"},{"key":"B31","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a mapReduce framework for analyzing next-generation DNA sequencing data.","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"B32","article-title":"Genetic mutations associated with presenile dementia.","volume":"23","author":"Miravalle","year":"2002","journal-title":"Neurobiol. Aging"},{"key":"B33","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1111\/j.1529-8027.2011.00350.x","article-title":"Reliability of the CMT neuropathy score (second version) in charcot-marie-tooth disease.","volume":"16","author":"Murphy","year":"2011","journal-title":"J. Peripher. Nerv. Syst."},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.07.028","article-title":"NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.","volume":"36","author":"Nalls","year":"2015","journal-title":"Neurobiol. Aging"},{"key":"B35","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.90.15_supplement.P5.080","article-title":"Beyond Whole-Exome Sequencing: a propos of two neurodegenerative diseases.","volume":"90","author":"Nascimento","year":"2018","journal-title":"Neurology"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-7-296","article-title":"Accelerating the reconstruction of genome-scale metabolic networks.","volume":"7","author":"Notebaart","year":"2006","journal-title":"BMC Bioinformatics"},{"key":"B37","doi-asserted-by":"publisher","first-page":"2844","DOI":"10.1093\/brain\/aww221","article-title":"Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.","volume":"139","author":"Reid","year":"2016","journal-title":"Brain"},{"key":"B38","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology.","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2010-11-3-r25","article-title":"A scaling normalization method for differential expression analysis of RNA-seq data.","volume":"11","author":"Robinson","year":"2010","journal-title":"Genome Biol."},{"key":"B40","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1212\/WNL.57.4.621","article-title":"Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.","volume":"57","author":"Rogaeva","year":"2001","journal-title":"Neurology"},{"key":"B41","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/B978-0-444-64189-2.00010-X","article-title":"Spinocerebellar ataxias","author":"Soong","year":"2018","journal-title":"Handbook of Clinical Neurology"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1004873","article-title":"CNVkit: genome-wide copy number detection and visualization from targeted DNA sequencing.","volume":"12","author":"Talevich","year":"2016","journal-title":"PLoS Comput. Biol."},{"key":"B43","doi-asserted-by":"publisher","DOI":"10.1101\/157792","article-title":"Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data.","author":"Tankard","year":"2018","journal-title":"bioRxiv"},{"key":"B44","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.jns.2014.10.013","article-title":"Hereditary motor and sensory neuropathies or charcot\u2013marie\u2013tooth diseases: an update.","volume":"347","author":"Tazir","year":"2014","journal-title":"J. Neurol. Sci."},{"key":"B45","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1136\/jmedgenet-2014-102333","article-title":"A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.","volume":"51","author":"Tsoi","year":"2014","journal-title":"J. Med. Genet."},{"key":"B46","doi-asserted-by":"publisher","first-page":"3510","DOI":"10.1093\/brain\/awq323","article-title":"TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.","volume":"133","author":"Wang","year":"2010","journal-title":"Brain"},{"key":"B47","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1038\/gim.2014.122","article-title":"Solving the molecular diagnostic testing conundrum for mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome\/genome sequencing.","volume":"17","author":"Xue","year":"2015","journal-title":"Genet. Med."},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a001248","article-title":"Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.","volume":"2","author":"Yu","year":"2016","journal-title":"Mol. Case Stud."},{"key":"B49","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1006\/nbdi.2002.0545","article-title":"Diverse trafficking abnormalities of connexin32 mutants causing CMTX.","volume":"11","author":"Yum","year":"2002","journal-title":"Neurobiol. Dis."}],"container-title":["Frontiers in Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fnins.2019.01324\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,28]],"date-time":"2024-07-28T11:48:43Z","timestamp":1722167323000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fnins.2019.01324\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,11]]},"references-count":49,"alternative-id":["10.3389\/fnins.2019.01324"],"URL":"https:\/\/doi.org\/10.3389\/fnins.2019.01324","relation":{},"ISSN":["1662-453X"],"issn-type":[{"value":"1662-453X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,11]]},"article-number":"1324"}}