{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T10:06:56Z","timestamp":1782986816368,"version":"3.54.5"},"reference-count":265,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Public Health Agency of Canada in association with Neurological Health Charities Canada"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["NeuroToxicology"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1016\/j.neuro.2016.09.018","type":"journal-article","created":{"date-parts":[[2016,10,7]],"date-time":"2016-10-07T13:16:06Z","timestamp":1475846166000},"page":"243-264","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"special_numbering":"C","title":["Genetic variation associated with the occurrence and progression of neurological disorders"],"prefix":"10.1016","volume":"61","author":[{"given":"Julian","family":"Little","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Barakat-Haddad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosemary","family":"Martino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Pringsheim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Tremlett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyla A.","family":"McKay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"van Lieshout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie J.","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Gomes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Krewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"357","key":"10.1016\/j.neuro.2016.09.018_bib0005","first-page":"e7","article-title":"Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34. 1","volume":"34","author":"ALSGEN Consortium","year":"2013","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neuro.2016.09.018_bib0010","unstructured":"ALSGene. APOE, chr19:45409011-45412650+\/\u221250000 base pairs. (2016). Located at: http:\/\/xgene.molgen.mpg.de\/alsgene\/view?gene=APOE (accessed 23.03.16.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0015","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1136\/jmedgenet-2014-102360","article-title":"A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories","volume":"51","author":"Akimoto","year":"2014","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0020","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1159\/000330167","article-title":"Modelling the effects of penetrance and family size on rates of sporadic and familial disease","volume":"71","author":"Al-Chalabi","year":"2011","journal-title":"Hum. Hered."},{"key":"10.1016\/j.neuro.2016.09.018_bib0025","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1136\/jnnp.2010.207464","article-title":"An estimate of amyotrophic lateral sclerosis heritability using twin data","volume":"81","author":"Al-Chalabi","year":"2010","journal-title":"J. Neurol. Neurosur. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib0030","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s00401-012-1022-4","article-title":"The genetics and neuropathology of amyotrophic lateral sclerosis","volume":"124","author":"Al-Chalabi","year":"2012","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0035","unstructured":"ALSGene. Top results. (2016). Located at: http:\/\/xgene.molgen.mpg.de\/alsgene\/top_results, (accessed 21.03.16.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0040","unstructured":"ALSoD. The Amyotrophic Lateral Sclerosis Online Genetic Database. (2013). Located at: http:\/\/alsod.iop.kcl.ac.uk\/Summary\/summary.aspx (accessed 18.12.13.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0045","unstructured":"AlzGene. Top results. (2011). Located at: http:\/\/www.alzgene.org\/TopResults.asp (accessed 24.03.16.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0050","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/gm249","article-title":"The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer\u2019s disease","volume":"3","author":"Antunez","year":"2011","journal-title":"Genome Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0055","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.yebeh.2004.11.018","article-title":"Risk factors for childhood epilepsy: a case-control study","volume":"6","author":"Asadi-Pooya","year":"2005","journal-title":"Epilepsy Behav."},{"key":"10.1016\/j.neuro.2016.09.018_bib0060","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/ddrr.93","article-title":"Epidemiologic and genetic aspects of spina bifida and other neural tube defects","volume":"16","author":"Au","year":"2010","journal-title":"Dev. Disabil. Res. Rev."},{"key":"10.1016\/j.neuro.2016.09.018_bib0065","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.neuro.2016.03.007","article-title":"A systematic review of risk factors associated with muscular dystrophies","volume":"61","author":"Barakat-Haddad","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0070","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.ajhg.2013.01.011","article-title":"Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population","volume":"92","author":"Beck","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0075","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1212\/WNL.0b013e31825f04ea","article-title":"Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy","volume":"79","author":"Bello","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0080","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1159\/000279653","article-title":"LRRK2 G2019S in the North African population: a review","volume":"63","author":"Benamer","year":"2010","journal-title":"Eur. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0085","first-page":"1567","article-title":"TREM2 and neurodegenerative disease","volume":"369","author":"Benitez","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0090","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1002\/mds.20504","article-title":"Alpha-synuclein and Parkinson\u2019s disease: implications from the screening of more than 1900 patients","volume":"20","author":"Berg","year":"2005","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0095","doi-asserted-by":"crossref","first-page":"S22","DOI":"10.1177\/15648265100311S103","article-title":"Fortification of flour with folic acid","volume":"31","author":"Berry","year":"2010","journal-title":"Food Nutr. Bull."},{"key":"10.1016\/j.neuro.2016.09.018_bib0100","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1056\/NEJM199911113412001","article-title":"Prevention of neural-tube defects with folic acid in China","volume":"341","author":"Berry","year":"1999","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0105","doi-asserted-by":"crossref","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":"10.1016\/j.neuro.2016.09.018_bib0110","first-page":"1565","article-title":"TREM2 and neurodegenerative disease","volume":"369","author":"Bertram","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0115","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.cell.2013.08.030","article-title":"A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk","volume":"155","author":"Blair","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.neuro.2016.09.018_bib0120","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1093\/oxfordjournals.aje.a010290","article-title":"5, 10-Methylenetetrahydrofolate Reductase gene variants and congenital anomalies: a HuGE review","volume":"151","author":"Botto","year":"2000","journal-title":"Am. J. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0125","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1136\/jnnp.74.5.665","article-title":"Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia","volume":"74","author":"Brancati","year":"2003","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib0130","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/S1474-4422(09)70081-X","article-title":"Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study","volume":"8","author":"Bressman","year":"2009","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0135","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1093\/ije\/dyn147","article-title":"Size matters: just how big is BIG?: quantifying realistic sample size requirements for human genome epidemiology","volume":"38","author":"Burton","year":"2009","journal-title":"Int. J. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0140","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1001\/jamaneurol.2013.6237","article-title":"TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis","volume":"71","author":"Cady","year":"2014","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0145","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/1741-7015-11-73","article-title":"How do autoimmune diseases cluster in families? A systematic review and meta-analysis","volume":"11","author":"Cardenas-Roldan","year":"2013","journal-title":"BMC Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0150","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.neuron.2013.10.052","article-title":"Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice","volume":"81","author":"Castellan Baldan","year":"2014","journal-title":"Neuron"},{"key":"10.1016\/j.neuro.2016.09.018_bib0155","unstructured":"Centers for Disease Control and Prevention. Cerebral palsy (CP). 2013. Located at: http:\/\/www.cdc.gov\/ncbddd\/cp\/data.html (accessed 15.01.14.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0160","first-page":"581","article-title":"2009. Prevalence of diagnosed Tourette syndrome in persons aged 6\u201317 years\u2014United States, 2007","volume":"58","author":"Centers for Disease Control and Prevention","year":"2009","journal-title":"MMWR Morb. Mortal. Wkly. Rep."},{"key":"10.1016\/j.neuro.2016.09.018_bib0165","doi-asserted-by":"crossref","first-page":"2016","DOI":"10.1016\/S0140-6736(13)60221-4","article-title":"Epidemiology of Alzheimer\u2019s disease and other forms of dementia in China, 1990\u20132010: a systematic review and analysis","volume":"381","author":"Chan","year":"2010","journal-title":"Lancet"},{"key":"10.1016\/j.neuro.2016.09.018_bib0170","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1326-6-1","article-title":"Localization of sequence variations in PGC-1alpha influence their modifying effect in Huntington disease","volume":"6","author":"Che","year":"2011","journal-title":"Mol. Neurodegener."},{"key":"10.1016\/j.neuro.2016.09.018_bib0175","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1016\/S0140-6736(13)60777-1","article-title":"Physical and cognitive functioning of people older than 90 years: a comparison of two Danish cohorts born 10 years apart","volume":"382","author":"Christensen","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.neuro.2016.09.018_bib0180","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1002\/mds.21976","article-title":"The hand that has forgotten its cunning\u2013lessons from musicians\u2019 hand dystonia","volume":"23","author":"Conti","year":"2008","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0185","doi-asserted-by":"crossref","first-page":"613","DOI":"10.4088\/JCP.v68n0419","article-title":"A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer\u2019s disease","volume":"68","author":"Coon","year":"2007","journal-title":"J. Clin. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib0190","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s00401-014-1251-9","article-title":"The widening spectrum of C9ORF72-related disease; genotype\/phenotype correlations and potential modifiers of clinical phenotype","volume":"127","author":"Cooper-Knock","year":"2014","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0195","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/S1474-4422(13)70110-8","article-title":"Neural tube defects: recent advances, unsolved questions, and controversies","volume":"12","author":"Copp","year":"2013","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0200","doi-asserted-by":"crossref","first-page":"10615","DOI":"10.1007\/s11033-012-1949-5","article-title":"SLC6A4 gene variants and temporal lobe epilepsy susceptibility: a meta-analysis","volume":"39","author":"Cordoba","year":"2012","journal-title":"Mol. Biol. Rep."},{"key":"10.1016\/j.neuro.2016.09.018_bib0205","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1152\/physrev.00022.2010","article-title":"What genetics tells us about the causes and mechanisms of Parkinson's disease","volume":"91","author":"Corti","year":"2011","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.neuro.2016.09.018_bib0210","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.neulet.2009.10.059","article-title":"Increased prevalence of val(66)met BDNF genotype among subjects with cervical dystonia","volume":"468","author":"Cramer","year":"2010","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.neuro.2016.09.018_bib0215","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1111\/j.1469-1809.2012.00721.x","article-title":"Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene","volume":"76","author":"Cummings","year":"2012","journal-title":"Ann. Hum. Genet."},{"issue":"726","key":"10.1016\/j.neuro.2016.09.018_bib0220","first-page":"e11","article-title":"Investigating the role of rare heterozygous TREM2 variants in Alzheimer\u2019s disease and frontotemporal dementia","volume":"35","author":"Cuyvers","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neuro.2016.09.018_bib0225","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1056\/NEJM199212243272602","article-title":"Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation","volume":"327","author":"Czeizel","year":"1992","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0230","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/S1059-1311(02)00194-2","article-title":"Risk factors for childhood epilepsy: a case-control study from Irbid, Jordan","volume":"12","author":"Daoud","year":"2003","journal-title":"Seizure"},{"key":"10.1016\/j.neuro.2016.09.018_bib0235","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/ije\/dyg070","article-title":"\u2018Mendelian randomization\u2019: can genetic epidemiology contribute to understanding environmental determinants of disease?","volume":"32","author":"Davey Smith","year":"2003","journal-title":"Int. J. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0240","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1097\/MPH.0b013e3181581546","article-title":"Family history of cancer among children with brain tumors: a critical review","volume":"30","author":"Dearlove","year":"2008","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0245","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1212\/01.WNL.0000049932.22065.60","article-title":"Primary cervical dystonia and scoliosis: a multicenter case-control study","volume":"60","author":"Defazio","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0250","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/mds.22471","article-title":"The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm","volume":"24","author":"Defazio","year":"2009","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0255","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.neuro.2016.09.018_bib0260","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/nrneurol.2014.78","article-title":"The role of FUS gene variants in neurodegenerative diseases","volume":"10","author":"Deng","year":"2014","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0265","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1002\/mds.20398","article-title":"Clinical and genetic evaluation in a French population presenting with primary focal dystonia","volume":"20","author":"Dhaenens","year":"2005","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0270","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/ana.24198","article-title":"C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis","volume":"76","author":"Diekstra","year":"2014","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0275","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.neuro.2016.03.008","article-title":"A systematic review of the risk factors associated with the onset and natural progression of spina bifida","volume":"61","author":"Donnan","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0280","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.neuro.2016.03.011","article-title":"Systematic review of the risk factors associated with the onset and natural progression of epilepsy","volume":"61","author":"Donnan","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0285","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1016\/j.biopsych.2013.07.008","article-title":"Population-based analysis of Alzheimer\u2019s disease risk alleles implicates genetic interactions","volume":"75","author":"Ebbert","year":"2014","journal-title":"Biol. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib0290","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1038\/377150a0","article-title":"A genetic basis for familial aggregation in multiple sclerosis. Canadian Collaborative Study Group","volume":"377","author":"Ebers","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.neuro.2016.09.018_bib0295","doi-asserted-by":"crossref","first-page":"e36458","DOI":"10.1371\/journal.pone.0036458","article-title":"A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism","volume":"7","author":"Edvardson","year":"2012","journal-title":"PLoS"},{"key":"10.1016\/j.neuro.2016.09.018_bib0300","series-title":"Epidemiology and Control of Neural Tube Defects","first-page":"10","article-title":"Classification, anatomy and embryology","author":"Elwood","year":"1992"},{"key":"10.1016\/j.neuro.2016.09.018_bib0305","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/nature12439","article-title":"De novo mutations in epileptic encephalopathies","volume":"501","author":"Epi4K Consortium","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.neuro.2016.09.018_bib0310","doi-asserted-by":"crossref","first-page":"5359","DOI":"10.1093\/hmg\/dds373","article-title":"Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32","volume":"21","author":"EPICURE Consortium","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0315","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1056\/NEJMoa0907006","article-title":"L-histidine decarboxylase and Tourette\u2019s syndrome","volume":"362","author":"Ercan-Sencicek","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0320","first-page":"9","article-title":"677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta","volume":"20","author":"Eser","year":"2010","journal-title":"Turk Neurosurg."},{"key":"10.1016\/j.neuro.2016.09.018_bib0325","unstructured":"EUROCAT. European surveillance of congenital anomalies. Prevalence tables. (2013). Located at: http:\/\/www.eurocat-network.eu\/accessprevalencedata\/prevalencetables (accessed January 15.01.14.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0330","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/j.ajhg.2014.08.013","article-title":"De Novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies","volume":"95","author":"EuroEPINOMICS-RES Consortium Electronic address: euroepinomics-RES@ua. ac. be","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0335","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1159\/000342779","article-title":"Incidence and prevalence of multiple sclerosis in the Americas: a systematic review","volume":"40","author":"Evans","year":"2013","journal-title":"Neuroepidemiology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0340","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1001\/jama.1997.03550160069041","article-title":"Effects of age, sex, ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer disease meta analysis consortium","volume":"278","author":"Farrer","year":"1997","journal-title":"JAMA"},{"key":"10.1016\/j.neuro.2016.09.018_bib0345","series-title":"GLOBOCAN 2012 v1.0, Cancer Incidence and Mortality Worldwide: IARC CancerBase No. 11 [Internet]","author":"Ferlay","year":"2013"},{"key":"10.1016\/j.neuro.2016.09.018_bib0350","doi-asserted-by":"crossref","first-page":"273","DOI":"10.2174\/156720511795563700","article-title":"FTD and ALS: a tale of two diseases","volume":"8","author":"Ferrari","year":"2011","journal-title":"Curr. Alzheimer Res."},{"key":"10.1016\/j.neuro.2016.09.018_bib0355","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1038\/mp.2008.141","article-title":"Examination of the current top candidate genes for AD in a genome-wide association study","volume":"15","author":"Feulner","year":"2010","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib0360","first-page":"e1","article-title":"Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis","volume":"35936","author":"Figley","year":"2014","journal-title":"Neurobiol. Aging"},{"issue":"546","key":"10.1016\/j.neuro.2016.09.018_bib0365","first-page":"e9","article-title":"TREM2 analysis and increased risk of Alzheimer\u2019s disease","volume":"36","author":"Finelli","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neuro.2016.09.018_bib0370","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.ejmg.2014.01.002","article-title":"Recent progress in the genetics of motor neuron disease","volume":"57","author":"Finsterer","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0375","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.1093\/hmg\/ddt587","article-title":"A genome-wide association meta-analysis identifies a novel locus at 17q11. 2 associated with sporadic amyotrophic lateral sclerosis","volume":"23","author":"Fogh","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0380","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1093\/ije\/dyq139","article-title":"Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies","volume":"39","author":"Fortier","year":"2010","journal-title":"Int. J. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0385","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1093\/ije\/dyr106","article-title":"Is rigorous retrospective harmonization possible? Application of the DataSHaPER approach across 53 large studies","volume":"40","author":"Fortier","year":"2011","journal-title":"Int. J. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0390","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/nrg2554","article-title":"Human genetic variation and its contribution to complex traits","volume":"10","author":"Frazer","year":"2009","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0395","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1002\/mds.22407","article-title":"The p.Asp216His TOR1A allele effect is not found in the French population","volume":"24","author":"Frederic","year":"2009","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0400","doi-asserted-by":"crossref","first-page":"157","DOI":"10.3233\/JAD-2012-120520","article-title":"Identification of a late onset Alzheimer\u2019s disease candidate risk variant at 9q21.33 in Polish patients","volume":"32","author":"Gaj","year":"2012","journal-title":"J. Alzheimers Dis."},{"key":"10.1016\/j.neuro.2016.09.018_bib0405","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s00401-013-1239-x","article-title":"TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions","volume":"127","author":"Gallagher","year":"2014","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0410","doi-asserted-by":"crossref","first-page":"30","DOI":"10.3109\/01677063.2013.876021","article-title":"The emerging roles of microRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disorders","volume":"28","author":"Gascon","year":"2014","journal-title":"J. Neurogenet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0415","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1001\/archpsyc.63.2.168","article-title":"Role of genes and environments for explaining Alzheimer disease","volume":"63","author":"Gatz","year":"2006","journal-title":"Arch. Gen. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib0420","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1212\/01.wnl.0000201192.66467.a3","article-title":"Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia","volume":"66","author":"Gerrits","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0425","doi-asserted-by":"crossref","first-page":"1911","DOI":"10.1093\/hmg\/4.10.1911","article-title":"Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population","volume":"4","author":"Goldberg","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0430","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1093\/hmg\/ddt574","article-title":"No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis","volume":"23","author":"Goris","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0435","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.ajhg.2007.09.006","article-title":"Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms","volume":"82","author":"Gorlov","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0440","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1038\/sj.ejhg.5200938","article-title":"The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted","volume":"11","author":"Grabowski","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0445","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1136\/jnnp.62.6.562","article-title":"British motor neuron disease twin study","volume":"62","author":"Graham","year":"1997","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib0450","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1056\/NEJMoa0809578","article-title":"Disclosure of APOE genotype for risk of Alzheimer\u2019s disease","volume":"361","author":"Green","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0455","first-page":"1569","article-title":"TREM2 and neurodegenerative disease","volume":"369","author":"Guerreiro","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0460","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1056\/NEJMoa1211851","article-title":"TREM2 variants in Alzheimer\u2019s disease","volume":"368","author":"Guerreiro","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0465","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1093\/hmg\/ddr550","article-title":"Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese","volume":"21","author":"Guo","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0470","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1002\/syn.20939","article-title":"Lack of association between synapsin II (SYN2) gene polymorphism and susceptibility epilepsy: a case-control study and meta-analysis","volume":"65","author":"Haerian","year":"2011","journal-title":"Synapse"},{"key":"10.1016\/j.neuro.2016.09.018_bib0475","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1007\/s00415-009-0117-x","article-title":"The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel","volume":"256","author":"Hassin-Baer","year":"2009","journal-title":"J. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0480","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1016\/S0140-6736(05)67531-9","article-title":"What makes a good genetic association study?","volume":"366","author":"Hattersley","year":"2005","journal-title":"Lancet"},{"key":"10.1016\/j.neuro.2016.09.018_bib0485","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1177\/1352458509104592","article-title":"Twin studies and the heritability of MS: a conclusion","volume":"15","author":"Hawkes","year":"2009","journal-title":"Mult. Scler."},{"key":"10.1016\/j.neuro.2016.09.018_bib0490","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/humu.9055","article-title":"Genetic background of Huntington disease in Croatia: molecular analysis of CAG, CCG, Delta2642 (E2642del) polymorphisms","volume":"20","author":"He\u0107imovi\u0107","year":"2002","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.neuro.2016.09.018_bib0495","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1159\/000094976","article-title":"Familial risks for epilepsy among siblings based on hospitalizations in Sweden","volume":"27","author":"Hemminki","year":"2006","journal-title":"Neuroepidemiology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0500","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/s10048-008-0156-y","article-title":"Risk for multiple sclerosis in relatives and spouses of patients diagnosed with autoimmune and related conditions","volume":"10","author":"Hemminki","year":"2009","journal-title":"Neurogenetics"},{"key":"10.1016\/j.neuro.2016.09.018_bib0505","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1111\/j.1365-3016.2007.00798.x","article-title":"High familial risks for cerebral palsy implicate partial heritable aetiology","volume":"21","author":"Hemminki","year":"2007","journal-title":"Paediatr. Perinat. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0510","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.neuro.2017.03.006","article-title":"Risk factors associated with the onset and progression of Alzheimer\u2019s disease: a systematic review of the evidence","volume":"61","author":"Hersi","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0515","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.neuro.2016.06.017","article-title":"Systematic reviews of factors associated with the onset and progression of neurological conditions in humans: a methodological overview","author":"Hersi","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0520","unstructured":"Hindorff, L.A., Junkins, H.A., Hall, P.N., Mehta, J.P., Manolio, T.A. (2013) A Catalog of Published Genome-Wide Association Studies. Located at: http:\/\/www.genome.gov\/26525384, (accessed 19.12.13.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0525","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/ng.803","article-title":"Common variants at ABCA7, MS4A6A\/MS4A4E EPHA1, CD33 and CD2AP are associated with Alzheimer\u2019s disease","volume":"43","author":"Hollingworth","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0530","doi-asserted-by":"crossref","first-page":"2917","DOI":"10.1007\/s00415-013-7112-y","article-title":"Amyotrophic lateral sclerosis: an update on recent genetic insights","volume":"260","author":"Iguchi","year":"2013","journal-title":"J. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0535","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1038\/ng.2770","article-title":"Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis","volume":"45","author":"International Multiple Sclerosis Genetics Consortium (IMSGC)","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0540","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/978-1-59745-389-9_6","article-title":"The genetic basis of complex traits: rare variants or \u201ccommon gene, common disease\u201d?","volume":"376","author":"Iyengar","year":"2007","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0545","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/ajmg.a.20505","article-title":"New 19bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy?","volume":"124A","author":"Johnson","year":"2004","journal-title":"Am. J. Med. Genet A."},{"key":"10.1016\/j.neuro.2016.09.018_bib0550","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1056\/NEJMoa1211103","article-title":"Variant of TREM2 associated with the risk of Alzheimer\u2019s disease","volume":"368","author":"Jonsson","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0555","first-page":"1568","article-title":"TREM2 and neurodegenerative disease","volume":"369","author":"Jonsson","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0560","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/ng0893-331","article-title":"A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)","volume":"4","author":"Jouet","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0565","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1002\/bdra.23079","article-title":"A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects","volume":"94","author":"Juriloff","year":"2012","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0570","doi-asserted-by":"crossref","first-page":"e117","DOI":"10.1038\/tp.2012.45","article-title":"Genome-wide association study of Alzheimer\u2019s disease","volume":"2","author":"Kamboh","year":"2012","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib0575","doi-asserted-by":"crossref","first-page":"2136","DOI":"10.1002\/mds.23777","article-title":"No evidence for THAP1\/DYT6 variants as disease modifiers in DYT1 dystonia","volume":"26","author":"Kamm","year":"2011","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0580","doi-asserted-by":"crossref","first-page":"2136","DOI":"10.1093\/brain\/awq130","article-title":"Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study","volume":"133","author":"Kasperaviciute","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.neuro.2016.09.018_bib0585","doi-asserted-by":"crossref","first-page":"3140","DOI":"10.1093\/brain\/awt233","article-title":"Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A","volume":"136","author":"Kasperaviciute","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.neuro.2016.09.018_bib0590","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1155\/2008\/723723","article-title":"Transcriptionally less active prodynorphin promoter alleles are associated with temporal lobe epilepsy: a case-control study and meta-analysis","volume":"24","author":"Kauffman","year":"2008","journal-title":"Dis. Markers"},{"key":"10.1016\/j.neuro.2016.09.018_bib0595","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/GIM.0b013e318161317c","article-title":"Association study between interleukin 1 beta gene and epileptic disorders: a HuGe review and meta-analysis","volume":"10","author":"Kauffman","year":"2008","journal-title":"Genet. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0600","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.eplepsyres.2010.05.007","article-title":"ApoE epsilon4 genotype and the age at onset of temporal lobe epilepsy: a case-control study and meta-analysis","volume":"90","author":"Kauffman","year":"2010","journal-title":"Epilepsy Res."},{"key":"10.1016\/j.neuro.2016.09.018_bib0605","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1001\/jamaneurol.2014.1184","article-title":"Genome-wide analysis of the heritability of amyotrophic lateral sclerosis","volume":"71","author":"Keller","year":"2014","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0610","doi-asserted-by":"crossref","first-page":"4996","DOI":"10.1093\/hmg\/dds335","article-title":"Using genome-wide complex trait analysis to quantify \u2018missing heritability\u2019 in Parkinson\u2019s disease","volume":"21","author":"Keller","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0615","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1186\/1471-2377-13-128","article-title":"Incidence and prevalence of multiple sclerosis in Europe: a systematic review","volume":"13","author":"Kingwell","year":"2013","journal-title":"BMC Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0620","doi-asserted-by":"crossref","first-page":"P518","DOI":"10.1016\/j.jalz.2013.04.239","article-title":"The identification of rare variants in late-onset Alzheimer\u2019s disease using extended families","volume":"9","author":"Kohli","year":"2013","journal-title":"Alzheimers Dement."},{"key":"10.1016\/j.neuro.2016.09.018_bib0625","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.parkreldis.2012.11.006","article-title":"DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability","volume":"19","author":"Koroglu","year":"2013","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0630","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.neuro.2017.04.002","article-title":"Determinants of neurological disease: synthesis of systematic reviews","volume":"61","author":"Krewski","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0635","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng0298-106","article-title":"Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson\u2019s disease","volume":"18","author":"Kruger","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0640","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/mp.2012.14","article-title":"Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer\u2019s disease","volume":"18","author":"Lambert","year":"2013","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib0645","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1038\/ng.2802","article-title":"Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer\u2019s disease","volume":"45","author":"Lambert","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0650","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1093\/hmg\/dds491","article-title":"Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer\u2019s disease, multiple sclerosis and endometriosis","volume":"22","author":"Lee","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0655","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1001\/archneur.61.7.1033","article-title":"Lack of familial aggregation of Parkinson disease and Alzheimer disease","volume":"61","author":"Levy","year":"2004","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0660","doi-asserted-by":"crossref","first-page":"238","DOI":"10.3109\/17482968.2011.584629","article-title":"Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases","volume":"12","author":"Lill","year":"2011","journal-title":"Amyotroph Lateral Scler."},{"key":"10.1016\/j.neuro.2016.09.018_bib0665","unstructured":"Lill, C.M., Roehr, J.T., McQueen, M.B., Bagade, S., Schjeide, B.M., Zipp, F., Bertram, L., The MSGene Database. Alzheimer Research Forum. (2012a). Located at: http:\/\/www.msgene.org\/ (accessed 24.03.16.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0670","doi-asserted-by":"crossref","first-page":"e1002548","DOI":"10.1371\/journal.pgen.1002548","article-title":"Comprehensive research synopsis and systematic meta-analyses in Parkinson\u2019s disease genetics: the PDGene database","volume":"8","author":"Lill","year":"2012","journal-title":"PLoS Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0675","series-title":"Epidemiology of Childhood Cancer","author":"Little","year":"1999"},{"key":"10.1016\/j.neuro.2016.09.018_bib0680","series-title":"Epidemiology and Control of Neural Tube Defects","first-page":"604","article-title":"Risks in siblings and other relatives","author":"Little","year":"1992"},{"key":"10.1016\/j.neuro.2016.09.018_bib0685","series-title":"Epidemiology and Control of Neural Tube Defects","first-page":"677","article-title":"Genetic models","author":"Little","year":"1992"},{"key":"10.1016\/j.neuro.2016.09.018_bib0690","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1001\/archneurol.2011.646","article-title":"A comprehensive genetic association study of Alzheimer disease in African Americans","volume":"68","author":"Logue","year":"2011","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0695","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.gde.2004.04.003","article-title":"The genetic architecture of quantitative traits: lessons from Drosophila","volume":"14","author":"Mackay","year":"2004","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.neuro.2016.09.018_bib0700","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1136\/practneurol-2015-001101","article-title":"Diagnosing dopamine-responsive dystonias","volume":"5","author":"Malek","year":"2015","journal-title":"Pract. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0705","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1002\/ijc.11213","article-title":"Familial brain tumours-genetics or environment? A nationwide cohort study of cancer risk in spouses and first-degree relatives of brain tumour patients","volume":"106","author":"Malmer","year":"2003","journal-title":"Int. J. Cancer."},{"key":"10.1016\/j.neuro.2016.09.018_bib0710","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.neuro.2016.04.003","article-title":"Onset and progression factors in Parkinson\u2019s Disease: a systematic review","volume":"61","author":"Martino","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0715","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1007\/s00381-009-0844-4","article-title":"On the changing epidemiology of hydrocephalus","volume":"25","author":"Massimi","year":"2009","journal-title":"Childs Nerv. Syst."},{"key":"10.1016\/j.neuro.2016.09.018_bib0720","doi-asserted-by":"crossref","first-page":"e36140","DOI":"10.1371\/journal.pone.0036140","article-title":"Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1","volume":"7","author":"Matesanz","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.neuro.2016.09.018_bib0725","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1016\/S0140-6736(13)61570-6","article-title":"A two-decade comparison of prevalence of dementia in individuals aged 65 years and older from three geographical areas of England: results of the cognitive function and ageing study I and II","volume":"382","author":"Matthews","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.neuro.2016.09.018_bib0730","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1159\/000054797","article-title":"Risk factors for epilepsy in a rural area in Tanzania. A community-based case-control study","volume":"20","author":"Matuja","year":"2001","journal-title":"Neuroepidemiology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0735","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a006239","article-title":"Epidemiology of Alzheimer disease","volume":"2","author":"Mayeux","year":"2012","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0740","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1038\/nrg2344","article-title":"Genome-wide association studies for complex traits: consensus, uncertainty and challenges","volume":"9","author":"McCarthy","year":"2008","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0745","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.neuro.2016.03.020","article-title":"Factors associated with onset, relapses or progression in multiple sclerosis: a systematic review","volume":"61","author":"McKay","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0750","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1093\/hmg\/6.5.775","article-title":"Reduced penetrance of the Huntington\u2019s disease mutation","volume":"6","author":"McNeil","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0755","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1002\/bdra.20279","article-title":"The muscular dystrophy surveillance tracking and research network (MD STARnet): surveillance methodology","volume":"76","author":"Miller","year":"2006","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0760","doi-asserted-by":"crossref","first-page":"e58618","DOI":"10.1371\/journal.pone.0058618","article-title":"SORL1 is genetically associated with late-onset Alzheimer\u2019s disease in Japanese, Koreans and Caucasians","volume":"8","author":"Miyashita","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.neuro.2016.09.018_bib0765","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/S1474-4422(11)70014-X","article-title":"alpha-Synuclein and tau concentrations in cerebrospinal fluid of patients presenting with parkinsonism: a cohort study","volume":"10","author":"Mollenhauer","year":"2011","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0770","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1111\/j.1528-1157.1995.tb00988.x","article-title":"Risk factors for idiopathic generalized seizures: a population-based case control study in Copparo, Italy","volume":"36","author":"Monetti","year":"1995","journal-title":"Epilepsia"},{"key":"10.1016\/j.neuro.2016.09.018_bib0775","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1159\/000073735","article-title":"The ubiquitous nature of epistasis in determining susceptibility to common human diseases","volume":"56","author":"Moore","year":"2003","journal-title":"Hum. Hered."},{"key":"10.1016\/j.neuro.2016.09.018_bib0780","article-title":"A systematic review of the risk factors associated with the onset and natural progression of neurotrauma","author":"Morrissey","year":"2016","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0785","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/0140-6736(91)90133-A","article-title":"Prevention of neural tube defects: results of the Medical Research Council Vitamin Study","volume":"338","author":"MRC Vitamin Study Research Group","year":"1991","journal-title":"Lancet"},{"key":"10.1016\/j.neuro.2016.09.018_bib0790","doi-asserted-by":"crossref","first-page":"281","DOI":"10.2188\/jea.JE20081034","article-title":"Systematic review of the prevalence and incidence of Parkinson\u2019s disease in Asia","volume":"19","author":"Muangpaisan","year":"2009","journal-title":"J. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0795","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1093\/brain\/aws158","article-title":"Familial aggregation of congenital hydrocephalus in a nationwide cohort","volume":"135","author":"Munch","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.neuro.2016.09.018_bib0800","doi-asserted-by":"crossref","first-page":"P517","DOI":"10.1016\/j.jalz.2013.04.237","article-title":"Exome array analysis identifies novel risk variants for non-familial early-onset Alzheimer\u2019s disease","volume":"9","author":"Naj","year":"2013","journal-title":"Alzheimers Dement."},{"key":"10.1016\/j.neuro.2016.09.018_bib0805","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1038\/ng.801","article-title":"Common variants at MS4A4\/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer\u2019s disease","volume":"43","author":"Naj","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0810","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1038\/ng.3043","article-title":"Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson\u2019s disease","volume":"46","author":"Nalls","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0815","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1093\/brain\/awf090","article-title":"The genetics of primary dystonias and related disorders","volume":"125","author":"N\u00e9meth","year":"2002","journal-title":"Brain"},{"key":"10.1016\/j.neuro.2016.09.018_bib0820","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1212\/WNL.0b013e31822cfc90","article-title":"Incidence of epilepsy: a systematic review and meta-analysis","volume":"77","author":"Ngugi","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0825","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1002\/ana.23687","article-title":"Meta-analysis of early nonmotor features and risk factors for Parkinson disease","volume":"72","author":"Noyce","year":"2012","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0830","doi-asserted-by":"crossref","first-page":"1882","DOI":"10.1111\/j.1528-1167.2010.02588.x","article-title":"Predisposition to epilepsy-does the ABCB1 gene play a role?","volume":"51","author":"Nurmohamed","year":"2010","journal-title":"Epilepsia"},{"key":"10.1016\/j.neuro.2016.09.018_bib0835","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1002\/humu.21277","article-title":"Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, LRRK2 genes: a mutation update","volume":"31","author":"Nuytemans","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.neuro.2016.09.018_bib0840","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1111\/j.1440-1754.2010.01896.x","article-title":"The Australian cerebral palsy research study-protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy","volume":"47","author":"O\u2019Callaghan","year":"2011","journal-title":"J. Paediatr. Child Health"},{"key":"10.1016\/j.neuro.2016.09.018_bib0845","doi-asserted-by":"crossref","first-page":"1842","DOI":"10.1001\/jama.2013.280319","article-title":"Glioblastoma and other malignant gliomas: a clinical review","volume":"310","author":"Omuro","year":"2013","journal-title":"JAMA"},{"key":"10.1016\/j.neuro.2016.09.018_bib0850","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.jpsychores.2009.06.006","article-title":"The genetics of Tourette syndrome: a review","volume":"67","author":"O\u2019Rourke","year":"2009","journal-title":"J. Psychosom. Res."},{"key":"10.1016\/j.neuro.2016.09.018_bib0855","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1212\/01.wnl.0000277637.33328.d8","article-title":"The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?","volume":"69","author":"Orr-Urtreger","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0860","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1111\/dmcn.12080","article-title":"An update on the prevalence of cerebral palsy: a systematic review and meta-analysis","volume":"55","author":"Oskoui","year":"2013","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0865","unstructured":"Ozelius, L., Lubarr, N. (2014). DYT1 Early-Onset Primary Dystonia. GeneReviews\u00ae [Internet]. Available at: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1492\/ (accessed 18.09.16.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0870","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1056\/NEJMc055509","article-title":"2006. LRRK2 G2019S as a cause of Parkinson\u2019s disease in Ashkenazi Jews","volume":"354","author":"Ozelius","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0875","doi-asserted-by":"crossref","first-page":"85","DOI":"10.3233\/JPD-130192","article-title":"LRRK2: cause, risk, mechanism","volume":"3","author":"Paisan-Ruiz","year":"2013","journal-title":"J. Parkinsons Dis."},{"key":"10.1016\/j.neuro.2016.09.018_bib0880","unstructured":"PDGene. PDGene top results. 19 August 2014. Located at: http:\/\/www.pdgene.org\/TopResults.asp (accessed 23.03.16.)."},{"key":"10.1016\/j.neuro.2016.09.018_bib0885","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/nrg1689","article-title":"Repeat instability: mechanisms of dynamic mutations","volume":"6","author":"Pearson","year":"2005","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0890","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1001\/jama.299.11.1335","article-title":"How to interpret a genome-wide association study","volume":"299","author":"Pearson","year":"2008","journal-title":"JAMA"},{"key":"10.1016\/j.neuro.2016.09.018_bib0895","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1212\/WNL.0b013e318207afeb","article-title":"SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy","volume":"76","author":"Pegoraro","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0900","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1016\/j.ejca.2006.05.009","article-title":"Childhood central nervous system tumours-incidence and survival in Europe (1978\u20131997): report from automated childhood cancer information system project","volume":"42","author":"Peris-Bonet","year":"2006","journal-title":"Eur. J. Cancer"},{"key":"10.1016\/j.neuro.2016.09.018_bib0905","doi-asserted-by":"crossref","first-page":"2045","DOI":"10.1126\/science.276.5321.2045","article-title":"Mutation in the alpha-synuclein gene identified in families with Parkinson\u2019s disease","volume":"276","author":"Polymeropoulos","year":"1997","journal-title":"Science"},{"issue":"63,75","key":"10.1016\/j.neuro.2016.09.018_bib0910","first-page":"e2","article-title":"The global prevalence of dementia: a systematic review and metaanalysis","volume":"9","author":"Prince","year":"2013","journal-title":"Alzheimers Dement."},{"key":"10.1016\/j.neuro.2016.09.018_bib0915","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1002\/mds.25075","article-title":"The incidence and prevalence of Huntington's disease: a systematic review and meta-analysis","volume":"27","author":"Pringsheim","year":"2012","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0920","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.neuro.2016.05.009","article-title":"A systematic review of the risk factors associated with the onset and progression of primary brain tumours","volume":"61","author":"Quach","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib0925","first-page":"1","article-title":"Family history and improving health","volume":"186","author":"Qureshi","year":"2009","journal-title":"Evid. Rep. Technol. Assess. (Full Rep)"},{"key":"10.1016\/j.neuro.2016.09.018_bib0930","first-page":"1565","article-title":"TREM2 and neurodegenerative disease","volume":"369","author":"Rajagopalan","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0935","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1007\/s00439-012-1212-0","article-title":"Genome-wide association study of glioma and meta-analysis","volume":"131","author":"Rajaraman","year":"2012","journal-title":"Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0940","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1750-1326-8-19","article-title":"TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson\u2019s disease","volume":"8","author":"Rayaprolu","year":"2013","journal-title":"Mol. Neurodegener."},{"key":"10.1016\/j.neuro.2016.09.018_bib0945","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1001\/jama.2013.2973","article-title":"Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E 4, and the risk of late-onset Alzheimer disease in African Americans","volume":"309","author":"Reitz","year":"2013","journal-title":"JAMA"},{"key":"10.1016\/j.neuro.2016.09.018_bib0950","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1056\/NEJMc1306509","article-title":"TREM2 and neurodegenerative disease","volume":"369","author":"Reitz","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib0955","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1034\/j.1399-0004.2003.00161.x","article-title":"Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype","volume":"64","author":"Relton","year":"2003","journal-title":"Clin. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib0960","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/nn.3584","article-title":"State of play in amyotrophic lateral sclerosis genetics","volume":"17","author":"Renton","year":"2014","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuro.2016.09.018_bib0965","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.neuro.2016.09.018_bib0970","doi-asserted-by":"crossref","first-page":"e79771","DOI":"10.1371\/journal.pone.0079771","article-title":"Alzheimer\u2019s disease: analyzing the missing heritability","volume":"8","author":"Ridge","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.neuro.2016.09.018_bib0975","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1002\/mds.22632","article-title":"Screening for dystonia genes DYT1, 11 and 16 in patients with writer\u2019s cramp","volume":"24","author":"Ritz","year":"2009","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0980","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s10048-007-0100-6","article-title":"Evidence of shared risk for Alzheimer\u2019s disease and Parkinson\u2019s disease using family history","volume":"8","author":"Rosen","year":"2007","journal-title":"Neurogenetics"},{"key":"10.1016\/j.neuro.2016.09.018_bib0985","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/mds.24024","article-title":"Age, CAG repeat length, clinical progression in Huntington\u2019s disease","volume":"27","author":"Rosenblatt","year":"2012","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib0990","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/ana.21380","article-title":"Genomic investigation of alpha-synuclein multiplication and parkinsonism","volume":"63","author":"Ross","year":"2008","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib0995","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1016\/S1474-4422(11)70175-2","article-title":"Association of LRRK2 exonic variants with susceptibility to Parkinson\u2019s disease: a case-control study","volume":"10","author":"Ross","year":"2011","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1000","doi-asserted-by":"crossref","first-page":"2897","DOI":"10.1093\/hmg\/ddr192","article-title":"Chromosome 7p11.2 (EGFR) variation influences glioma risk","volume":"20","author":"Sanson","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1005","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1016\/j.jaac.2011.11.004","article-title":"Prevalence of Tourette syndrome and chronic tics in the population-based Avon longitudinal study of parents and children cohort","volume":"51","author":"Scharf","year":"2012","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib1010","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1038\/mp.2012.69","article-title":"Genome-wide association study of Tourette\u2019s syndrome","volume":"18","author":"Scharf","year":"2013","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib1015","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1093\/aje\/kwq261","article-title":"Familial aggregation of glioma: a pooled analysis","volume":"172","author":"Scheurer","year":"2010","journal-title":"Am. J. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1020","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1038\/ng.940","article-title":"Genome-wide association study identifies five new schizophrenia loci","volume":"43","author":"Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1025","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1016\/j.parkreldis.2011.12.008","article-title":"The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician\u2019s dystonia","volume":"18","author":"Schmidt","year":"2012","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib1030","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1212\/01.wnl.0000230148.00035.f9","article-title":"Dominantly transmitted focal dystonia in families of patients with musician\u2019s cramp","volume":"67","author":"Schmidt","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.neuro.2016.09.018_bib1035","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1212\/01.wnl.0000345670.63363.d1","article-title":"Etiology of musician's dystonia: familial or environmental?","volume":"72","author":"Schmidt","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.neuro.2016.09.018_bib1040","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1007\/s10552-008-9128-7","article-title":"Family cancer history and risk of brain tumors in children: results of the SEARCH International Brain Tumor Study","volume":"19","author":"Searles Nielsen","year":"2008","journal-title":"Cancer Causes Control"},{"key":"10.1016\/j.neuro.2016.09.018_bib1045","doi-asserted-by":"crossref","first-page":"e116","DOI":"10.1038\/tp.2012.37","article-title":"A genome-wide meta-analysis of association studies of Cloninger\u2019s temperament scales","volume":"2","author":"Service","year":"2012","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib1050","doi-asserted-by":"crossref","first-page":"19910","DOI":"10.1073\/pnas.0810388105","article-title":"Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis","volume":"105","author":"Shao","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neuro.2016.09.018_bib1055","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1136\/jmedgenet-2012-101155","article-title":"A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants","volume":"49","author":"Sharma","year":"2012","journal-title":"J. Met. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1060","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1038\/ng.407","article-title":"Genome-wide association study identifies five susceptibility loci for glioma","volume":"41","author":"Shete","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1065","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1136\/jnnp.2011.240432","article-title":"Latitude is significantly associated with the prevalence of multiple sclerosis: a meta-analysis","volume":"82","author":"Simpson","year":"2011","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib1070","doi-asserted-by":"crossref","first-page":"R158","DOI":"10.1093\/hmg\/ddr358","article-title":"A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci","volume":"20","author":"Singleton","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1075","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.ajhg.2011.10.004","article-title":"Abundant pleiotropy in human complex diseases and traits","volume":"89","author":"Sivakumaran","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1080","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1093\/jnci\/90.17.1269","article-title":"Trends in reported incidence of primary malignant brain tumors in children in the United States","volume":"90","author":"Smith","year":"1998","journal-title":"J. Natl. Cancer Inst."},{"key":"10.1016\/j.neuro.2016.09.018_bib1085","doi-asserted-by":"crossref","first-page":"6469","DOI":"10.1073\/pnas.95.11.6469","article-title":"alpha-Synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies","volume":"95","author":"Spillantini","year":"1998","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neuro.2016.09.018_bib1090","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/42166","article-title":"Alpha-synuclein in Lewy bodies","volume":"388","author":"Spillantini","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.neuro.2016.09.018_bib1095","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1002\/mds.25244","article-title":"The prevalence of primary dystonia: a systematic review and meta-analysis","volume":"27","author":"Steeves","year":"2012","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neuro.2016.09.018_bib1100","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1093\/oxfordjournals.bmb.a011577","article-title":"Geographic and ethnic variations in the incidence of childhood cancer","volume":"52","author":"Stiller","year":"1996","journal-title":"Br. Med. Bull."},{"key":"10.1016\/j.neuro.2016.09.018_bib1105","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1002\/mus.24198","article-title":"Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research","volume":"49","author":"Su","year":"2014","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.neuro.2016.09.018_bib1110","doi-asserted-by":"crossref","first-page":"e152","DOI":"10.1542\/peds.2011-3217","article-title":"Autism spectrum disorder ADHD, epilepsy, cerebral palsy in Norwegian children","volume":"130","author":"Suren","year":"2012","journal-title":"Pediatrics"},{"key":"10.1016\/j.neuro.2016.09.018_bib1115","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1136\/jnnp.2010.224816","article-title":"Do twin studies still have anything to teach us about the genetics of amyotrophic lateral sclerosis?","volume":"81","author":"Talbot","year":"2010","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neuro.2016.09.018_bib1120","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a006296","article-title":"The genetics of Alzheimer disease","volume":"2","author":"Tanzi","year":"2012","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"10.1016\/j.neuro.2016.09.018_bib1125","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1111\/j.0013-9580.2004.24904.x","article-title":"National and regional prevalence of self-reported epilepsy in Canada","volume":"45","author":"Tellez-Zenteno","year":"2004","journal-title":"Epilepsia"},{"key":"10.1016\/j.neuro.2016.09.018_bib1130","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1136\/jmg.2005.036780","article-title":"Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes","volume":"43","author":"Tezenas du Montcel","year":"2006","journal-title":"J. Med. Genet."},{"issue":"2657","key":"10.1016\/j.neuro.2016.09.018_bib1135","first-page":"e13","article-title":"Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes","volume":"35","author":"Thelen","year":"2014","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neuro.2016.09.018_bib1140","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1212\/01.wnl.0000194259.90286.fe","article-title":"Disability progression in multiple sclerosis is slower than previously reported","volume":"66","author":"Tremlett","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.neuro.2016.09.018_bib1145","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/nrneurol.2013.132","article-title":"Advances in the genetics of Parkinson disease","volume":"9","author":"Trinh","year":"2013","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1150","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S1474-4422(13)70036-X","article-title":"Controversies and priorities in amyotrophic lateral sclerosis","volume":"12","author":"Turner","year":"2013","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1155","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1016\/S1474-4422(13)70210-2","article-title":"Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study","volume":"12","author":"van Blitterswijk","year":"2013","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1160","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s00401-013-1240-4","article-title":"TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia","volume":"127","author":"van Blitterswijk","year":"2014","journal-title":"Acta Neuropathol."},{"issue":"Suppl. 2","key":"10.1016\/j.neuro.2016.09.018_bib1165","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1093\/ije\/20.Supplement_2.S4","article-title":"Risk factors for Alzheimer\u2019s disease: overview of the EURODEM collaborative re-analysis of case-control studies. EURODEM Risk Factors Research Group","volume":"20","author":"van Duijn","year":"1991","journal-title":"Int. J. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1170","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.neuro.2016.03.021","article-title":"Onset factors in cerebral palsy: a systematic review","volume":"61","author":"van Lieshout","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib1175","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1093\/aje\/kwk086","article-title":"The long-term risk of epilepsy after febrile seizures in susceptible subgroups","volume":"165","author":"Vestergaard","year":"2007","journal-title":"Am. J. Epidemiol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1180","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1093\/hmg\/ddt570","article-title":"DNAJC13 mutations in Parkinson disease","volume":"23","author":"Vilarino-Guell","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1185","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ajhg.2011.06.001","article-title":"VPS35 mutations in Parkinson disease","volume":"89","author":"Vilarino-Guell","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1190","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/tera.10097","article-title":"Apolipoprotein E and apolipoprotein B genotypes and risk for spina bifida","volume":"66","author":"Volcik","year":"2002","journal-title":"Teratology"},{"key":"10.1016\/j.neuro.2016.09.018_bib1195","doi-asserted-by":"crossref","first-page":"1222002","DOI":"10.1126\/science.1222002","article-title":"The continuing challenge of understanding, preventing, treating neural tube defects","volume":"339","author":"Wallingford","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.neuro.2016.09.018_bib1200","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.neuro.2016.03.012","article-title":"A systematic review of the risks factors associated with the onset and natural progression of hydrocephalus","volume":"61","author":"Walsh","year":"2017","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neuro.2016.09.018_bib1205","doi-asserted-by":"crossref","first-page":"e105534","DOI":"10.1371\/journal.pone.0105534","article-title":"Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS-a systematic review and meta-analysis of observational studies","volume":"9","author":"Wang","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.neuro.2016.09.018_bib1210","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.neuro.2016.06.015","article-title":"Identification of risk factors associated with onset andprogression of amyotrophic lateral sclerosis using systematic review and meta-analysis","volume":"61","author":"Wang","year":"2017","journal-title":"Neurotoxicology"},{"issue":"251","key":"10.1016\/j.neuro.2016.09.018_bib1215","first-page":"e1","article-title":"Association between MTHFR A1298C polymorphism and neural tube defect susceptibility: a metaanalysis","volume":"206","author":"Wang","year":"2012","journal-title":"Am. J. Obstet. Gynecol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1220","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.ajhg.2009.02.003","article-title":"CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup","volume":"84","author":"Warby","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1225","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1038\/ejhg.2010.229","article-title":"HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia","volume":"19","author":"Warby","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1230","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1159\/000110789","article-title":"Sorl1 as an Alzheimer\u2019s disease predisposition gene?","volume":"5","author":"Webster","year":"2008","journal-title":"Neurodegener Dis."},{"key":"10.1016\/j.neuro.2016.09.018_bib1235","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1093\/brain\/awt356","article-title":"Modest familial risks for multiple sclerosis: a registry-based study of the population of Sweden","volume":"137","author":"Westerlind","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.neuro.2016.09.018_bib1240","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1007\/s10038-007-0194-6","article-title":"A genome-wide scan in forty large pedigrees with multiple sclerosis","volume":"52","author":"Willer","year":"2007","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1245","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1089\/109065700316480","article-title":"Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability","volume":"4","author":"Williams","year":"2000","journal-title":"Genet. Test"},{"issue":"Suppl. 10","key":"10.1016\/j.neuro.2016.09.018_bib1250","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/j.1528-1167.2005.00354.x","article-title":"Genetic epidemiology of epilepsy or what do we tell families?","volume":"46","author":"Winawer","year":"2005","journal-title":"Epilepsia"},{"key":"10.1016\/j.neuro.2016.09.018_bib1255","doi-asserted-by":"crossref","first-page":"e27985","DOI":"10.1371\/journal.pone.0027985","article-title":"The heritability of amyotrophic lateral sclerosis in a clinically ascertained United States research registry","volume":"6","author":"Wingo","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.neuro.2016.09.018_bib1260","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1126\/science.6729462","article-title":"Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes","volume":"224","author":"Worton","year":"1984","journal-title":"Science"},{"key":"10.1016\/j.neuro.2016.09.018_bib1265","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1038\/ng.408","article-title":"Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility","volume":"41","author":"Wrensch","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1270","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1017\/S0317167100013949","article-title":"Early-onset familial Alzheimer\u2019s disease (EOFAD)","volume":"39","author":"Wu","year":"2012","journal-title":"Can. J. Neurol. Sci."},{"key":"10.1016\/j.neuro.2016.09.018_bib1275","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.eplepsyres.2011.04.014","article-title":"GABBR1 gene polymorphism(G1465A) is associated with temporal lobe epilepsy","volume":"96","author":"Xi","year":"2011","journal-title":"Epilepsy Res."},{"key":"10.1016\/j.neuro.2016.09.018_bib1280","doi-asserted-by":"crossref","first-page":"3154","DOI":"10.1158\/1078-0432.CCR-11-2778","article-title":"SSBP2 variants are associated with survival in glioblastoma patients","volume":"18","author":"Xiao","year":"2012","journal-title":"Clin. Cancer Res."},{"key":"10.1016\/j.neuro.2016.09.018_bib1285","doi-asserted-by":"crossref","first-page":"3211","DOI":"10.1007\/s13277-013-1420-9","article-title":"Association between ERCC1 C8092A and ERCC2 K751Q polymorphisms and risk of adult glioma: a meta-analysis","volume":"35","author":"Xu","year":"2014","journal-title":"Tumour Biol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1290","doi-asserted-by":"crossref","first-page":"e41689","DOI":"10.1371\/journal.pone.0041689","article-title":"Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies","volume":"7","author":"Yan","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.neuro.2016.09.018_bib1295","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/1755-8794-4-63","article-title":"Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk","volume":"4","author":"Yang","year":"2011","journal-title":"BMC Med. Genomics"},{"key":"10.1016\/j.neuro.2016.09.018_bib1300","first-page":"39","article-title":"Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD)","volume":"149","author":"Zago","year":"2011","journal-title":"Arch. Ital. Biol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1305","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/ana.10795","article-title":"The new mutation E46K, of alpha-synuclein causes Parkinson and Lewy body dementia","volume":"55","author":"Zarranz","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1310","doi-asserted-by":"crossref","first-page":"3828","DOI":"10.1038\/ncomms4828","article-title":"Mutation in VPS35 associated with Parkinson\u2019s disease impairs WASH complex association and inhibits autophagy","volume":"5","author":"Zavodszky","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neuro.2016.09.018_bib1315","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1007\/s00415-006-0245-5","article-title":"Genetics of human hydrocephalus","volume":"253","author":"Zhang","year":"2006","journal-title":"J. Neurol."},{"key":"10.1016\/j.neuro.2016.09.018_bib1320","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.ajhg.2011.06.008","article-title":"A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease","volume":"89","author":"Zimprich","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuro.2016.09.018_bib1325","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/ng709","article-title":"Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome","volume":"29","author":"Zimprich","year":"2001","journal-title":"Nat. Genet."}],"container-title":["NeuroToxicology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161813X1630198X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161813X1630198X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,15]],"date-time":"2021-05-15T07:56:39Z","timestamp":1621065399000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0161813X1630198X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7]]},"references-count":265,"alternative-id":["S0161813X1630198X"],"URL":"https:\/\/doi.org\/10.1016\/j.neuro.2016.09.018","relation":{},"ISSN":["0161-813X"],"issn-type":[{"value":"0161-813X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic variation associated with the occurrence and progression of neurological disorders","name":"articletitle","label":"Article Title"},{"value":"NeuroToxicology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neuro.2016.09.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}