{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:26:02Z","timestamp":1791293162354,"version":"4.1.0"},"reference-count":63,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2016,10,3]],"date-time":"2016-10-03T00:00:00Z","timestamp":1475452800000},"content-version":"vor","delay-in-days":1098,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,10,1]]},"DOI":"10.1093\/brain\/awt236","type":"journal-article","created":{"date-parts":[[2013,9,13]],"date-time":"2013-09-13T17:05:17Z","timestamp":1379091917000},"page":"3106-3118","source":"Crossref","is-referenced-by-count":158,"title":["Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model"],"prefix":"10.1093","volume":"136","author":[{"given":"Andrea H.","family":"N\u00e9meth","sequence":"first","affiliation":[{"name":"1 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK"},{"name":"2 Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, OX3 7LJ, UK"},{"name":"3 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra C.","family":"Kwasniewska","sequence":"additional","affiliation":[{"name":"1 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK"},{"name":"3 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Lise","sequence":"additional","affiliation":[{"name":"3 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Parolin Schnekenberg","sequence":"additional","affiliation":[{"name":"3 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK"},{"name":"4 School of Medicine, Universidade Positivo, Curitiba, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther B. E.","family":"Becker","sequence":"additional","affiliation":[{"name":"5 Department of Physiology, Anatomy and Genetics, MRC Functional Genomics Unit, University of Oxford, OX1 3QX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna D.","family":"Bera","sequence":"additional","affiliation":[{"name":"5 Department of Physiology, Anatomy and Genetics, MRC Functional Genomics Unit, University of Oxford, OX1 3QX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morag E.","family":"Shanks","sequence":"additional","affiliation":[{"name":"3 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorna","family":"Gregory","sequence":"additional","affiliation":[{"name":"3 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Buck","sequence":"additional","affiliation":[{"name":"3 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Zameel Cader","sequence":"additional","affiliation":[{"name":"1 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Talbot","sequence":"additional","affiliation":[{"name":"1 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajith","family":"de Silva","sequence":"additional","affiliation":[{"name":"6 Department of Neurology, Essex Centre for Neurological Sciences, Queen's Hospital, Romford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Fletcher","sequence":"additional","affiliation":[{"name":"7 Walton Centre NHS Foundation Trust, Liverpool, L9 7LJ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob","family":"Hastings","sequence":"additional","affiliation":[{"name":"8 Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandeep","family":"Jayawant","sequence":"additional","affiliation":[{"name":"9 Department of Paediatrics, Oxford University Hospitals NHS Trust, Oxford, OX3 7LJ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J.","family":"Morrison","sequence":"additional","affiliation":[{"name":"10 School of Medicine, Dentistry and Biomedical Sciences, Queens University, Belfast, BT9 7BL, Northern Ireland, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Worth","sequence":"additional","affiliation":[{"name":"11 Department of Neurology, Norfolk and Norwich University Hospital, Norwich, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm","family":"Taylor","sequence":"additional","affiliation":[{"name":"12 School of Cancer Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Tolmie","sequence":"additional","affiliation":[{"name":"13 Department of Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"O\u2019Regan","sequence":"additional","affiliation":[{"name":"14 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow G3 8SJ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"UK Ataxia Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Valentine","sequence":"additional","affiliation":[{"name":"15 Thames Valley Dementia and Neurodegenerative Diseases Network, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Packham","sequence":"additional","affiliation":[{"name":"16 Oxford Regional Molecular Genetics Laboratories, Oxford University Hospitals NHS Trust"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Evans","sequence":"additional","affiliation":[{"name":"16 Oxford Regional Molecular Genetics Laboratories, Oxford University Hospitals NHS Trust"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke","family":"Seller","sequence":"additional","affiliation":[{"name":"16 Oxford Regional Molecular Genetics Laboratories, Oxford University Hospitals NHS Trust"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiannis","family":"Ragoussis","sequence":"additional","affiliation":[{"name":"3 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,10,1]]},"reference":[{"key":"key\n\t\t\t\t20180328140719_awt236-B1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"key\n\t\t\t\t20180328140719_awt236-B2","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1101\/gr.112326.110","article-title":"Dindel: accurate indel calls from short-read data","volume":"21","author":"Albers","year":"2011","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180328140719_awt236-B3","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1007\/s10038-005-0287-z","article-title":"A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14","volume":"50","author":"Alonso","year":"2005","journal-title":"J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10048-009-0196-y","article-title":"Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management","volume":"11","author":"Anheim","year":"2010","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20180328140719_awt236-B5","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1146\/annurev.genom.9.081307.164204","article-title":"The role of aminoacyl-tRNA synthetases in genetic diseases","volume":"9","author":"Antonellis","year":"2008","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B6","doi-asserted-by":"crossref","first-page":"e1001288","DOI":"10.1371\/journal.pbio.1001288","article-title":"Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans","volume":"10","author":"Bayat","year":"2012","journal-title":"PLoS Biol"},{"key":"key\n\t\t\t\t20180328140719_awt236-B62","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1093\/bioinformatics\/16.2.135","article-title":"TEXshade: shading and labeling of multiple sequence alignments using LATEX2 epsilon","volume":"16","author":"Beitz","year":"2000","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180328140719_awt236-B7","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ajhg.2010.12.010","article-title":"Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome","volume":"88","author":"Belostotsky","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B8","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.ajhg.2012.07.018","article-title":"VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families","volume":"91","author":"Bourassa","year":"2012","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B9","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1086\/373883","article-title":"Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia","volume":"72","author":"Chen","year":"2003","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B10","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.ajhg.2011.04.011","article-title":"A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia","volume":"88","author":"Corbett","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B11","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1755-8794-5-17","article-title":"Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform","volume":"5","author":"De Keulenaer","year":"2012","journal-title":"BMC Med Genomics"},{"key":"key\n\t\t\t\t20180328140719_awt236-B12","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ajhg.2011.07.012","article-title":"Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation","volume":"89","author":"Doi","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B13","doi-asserted-by":"crossref","first-page":"4521","DOI":"10.1093\/hmg\/dds294","article-title":"Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy","volume":"21","author":"Elo","year":"2012","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B14","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/72769","article-title":"ARSACS, a spastic ataxia common in northeastern Quebec, 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":"key\n\t\t\t\t20180328140719_awt236-B15","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/humu.21165","article-title":"KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients","volume":"31","author":"Figueroa","year":"2010","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180328140719_awt236-B16","doi-asserted-by":"crossref","first-page":"D800","DOI":"10.1093\/nar\/gkq1064","article-title":"Ensembl 2011","volume":"39","author":"Flicek","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180328140719_awt236-B17","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1136\/jmg.2010.083345","article-title":"Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice","volume":"48","author":"Fokstuen","year":"2011","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B18","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.ajhg.2012.07.019","article-title":"Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1","volume":"91","author":"Guergueltcheva","year":"2012","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B19","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1101\/gr.126110.111","article-title":"Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred","volume":"21","author":"Gulsuner","year":"2011","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180328140719_awt236-B20","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1093\/bioinformatics\/btt118","article-title":"MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis","volume":"29","author":"Guo","year":"2013","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180328140719_awt236-B21","author":"Harding"},{"key":"key\n\t\t\t\t20180328140719_awt236-B22","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1002\/humu.21221","article-title":"Massively parallel sequencing of ataxia genes after array-based enrichment","volume":"31","author":"Hoischen","year":"2010","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180328140719_awt236-B23","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1038\/ng.2007.43","article-title":"Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11","volume":"39","author":"Houlden","year":"2007","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B24","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/ng1728","article-title":"Spectrin mutations cause spinocerebellar ataxia type 5","volume":"38","author":"Ikeda","year":"2006","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B25","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1007\/s00415-004-0427-y","article-title":"Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein","volume":"251","author":"Izatt","year":"2004","journal-title":"J Neurol"},{"key":"key\n\t\t\t\t20180328140719_awt236-B26","doi-asserted-by":"crossref","first-page":"20407","DOI":"10.1074\/jbc.M111.232884","article-title":"Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)","volume":"286","author":"Kozlov","year":"2011","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20180328140719_awt236-B27","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1017\/S0317167100004431","article-title":"Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic","volume":"32","author":"Kraft","year":"2005","journal-title":"Can J Neurol Sci"},{"key":"key\n\t\t\t\t20180328140719_awt236-B28","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1093\/bioinformatics\/btp528","article-title":"Automated inference of molecular mechanisms of disease from amino acid substitutions","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180328140719_awt236-B29","doi-asserted-by":"crossref","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":"key\n\t\t\t\t20180328140719_awt236-B30","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180328140719_awt236-B31","doi-asserted-by":"crossref","first-page":"e1003074","DOI":"10.1371\/journal.pgen.1003074","article-title":"Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development","volume":"8","author":"Lise","year":"2012","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B32","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1101\/gr.141705.112","article-title":"Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene","volume":"23","author":"Loomis","year":"2013","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180328140719_awt236-B33","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1101\/gr.111120.110","article-title":"Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads","volume":"21","author":"Lunter","year":"2011","journal-title":"Genome Res"},{"issue":"Pt 7","key":"key\n\t\t\t\t20180328140719_awt236-B34","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1113\/jphysiol.2012.228205","article-title":"Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13","volume":"590","author":"Minassian","year":"2012","journal-title":"J Physiol"},{"key":"key\n\t\t\t\t20180328140719_awt236-B35","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng1001-189","article-title":"The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT\/Zn-finger protein aprataxin","volume":"29","author":"Moreira","year":"2001","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B36","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/ng1303","article-title":"Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2","volume":"36","author":"Moreira","year":"2004","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B37","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1136\/jnnp.2003.014662","article-title":"Population based study of late onset cerebellar ataxia in south east Wales","volume":"75","author":"Muzaimi","year":"2004","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key\n\t\t\t\t20180328140719_awt236-B38","first-page":"1320","article-title":"Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34","volume":"67","author":"N\u00e9meth","year":"2000","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B39","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/ejhg.2012.170","article-title":"Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion","volume":"21","author":"Onat","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B40","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1038\/nmeth.2029","article-title":"Mitochondrial genomes gleaned from human whole-exome sequencing","volume":"9","author":"Picardi","year":"2012","journal-title":"Nat Methods"},{"key":"key\n\t\t\t\t20180328140719_awt236-B41","doi-asserted-by":"crossref","first-page":"6543","DOI":"10.1073\/pnas.1103471108","article-title":"Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome","volume":"108","author":"Pierce","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20180328140719_awt236-B42","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.gene.2012.12.060","article-title":"Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: Utility and limitations","volume":"516","author":"Qi","year":"2012","journal-title":"Gene"},{"key":"key\n\t\t\t\t20180328140719_awt236-B43","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","article-title":"BEDTools: a flexible suite of utilities for comparing genomic features","volume":"26","author":"Quinlan","year":"2010","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180328140719_awt236-B44","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ajhg.2010.06.001","article-title":"Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia\u2014MLASA syndrome","volume":"87","author":"Riley","year":"2010","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B45","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/ng2013","article-title":"Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","volume":"39","author":"Scheper","year":"2007","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B46","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/ajmg.a.35737","article-title":"A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing","volume":"161","author":"Schrauwen","year":"2013","journal-title":"Am J Med Genet A"},{"key":"key\n\t\t\t\t20180328140719_awt236-B47","doi-asserted-by":"crossref","first-page":"29096","DOI":"10.1074\/jbc.M501716200","article-title":"Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death","volume":"280","author":"Seki","year":"2005","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20180328140719_awt236-B48","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/ejhg.2012.172","article-title":"Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease","volume":"21","author":"Shanks","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B49","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic Acids Res"},{"issue":"Pt 6","key":"key\n\t\t\t\t20180328140719_awt236-B50","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1093\/brain\/awl107","article-title":"Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis","volume":"129","author":"Siintola","year":"2006","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180328140719_awt236-B51","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res"},{"issue":"Pt 5","key":"key\n\t\t\t\t20180328140719_awt236-B52","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1093\/brain\/aws070","article-title":"Leukoencephalopathy with thalamus and brainstem involvement and high lactate \u2018LTBL\u2019 caused by EARS2 mutations","volume":"135","author":"Steenweg","year":"2012","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180328140719_awt236-B53","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/504159","article-title":"Cathepsin D deficiency is associated with a human neurodegenerative disorder","volume":"78","author":"Steinfeld","year":"2006","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B54","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/S0092-8674(00)81547-0","article-title":"The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder","volume":"99","author":"Stewart","year":"1999","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180328140719_awt236-B55","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1136\/jmedgenet-2012-100856","article-title":"Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability","volume":"49","author":"Thevenon","year":"2012","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B56","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/j.ajhg.2010.10.015","article-title":"Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia","volume":"87","author":"Vermeer","year":"2010","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B57","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/ng1758","article-title":"Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes","volume":"38","author":"Waters","year":"2006","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B58","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1093\/hmg\/dds035","article-title":"Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy","volume":"21","author":"Winkelmann","year":"2012","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180328140719_awt236-B59","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/1755-8794-5-50","article-title":"A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective","volume":"5","author":"Wooderchak-Donahue","year":"2012","journal-title":"BMC Med Genomics"},{"key":"key\n\t\t\t\t20180328140719_awt236-B63","doi-asserted-by":"crossref","first-page":"10709","DOI":"10.1021\/bi970833a","article-title":"NMR structure of a protein kinase C-gamma phorbol-binding domain and study of protein-lipid micelle interactions","volume":"36","author":"Xu","year":"1997","journal-title":"Biochemistry"},{"key":"key\n\t\t\t\t20180328140719_awt236-B60","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1001\/archneur.60.12.1749","article-title":"Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma","volume":"60","author":"Yabe","year":"2003","journal-title":"Arch Neurol"},{"key":"key\n\t\t\t\t20180328140719_awt236-B61","doi-asserted-by":"crossref","first-page":"14514","DOI":"10.1073\/pnas.1207488109","article-title":"Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis","volume":"109","author":"Zanni","year":"2012","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/136\/10\/3106\/13796047\/awt236.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,28]],"date-time":"2018-03-28T15:45:42Z","timestamp":1522251942000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/136\/10\/3106\/330415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,1]]},"references-count":63,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2013,10,1]]},"published-print":{"date-parts":[[2013,10,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awt236","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published-other":{"date-parts":[[2013,10]]},"published":{"date-parts":[[2013,10,1]]}}}