{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T06:50:22Z","timestamp":1790319022641,"version":"4.1.0"},"reference-count":77,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2017,5,1]],"date-time":"2017-05-01T00:00:00Z","timestamp":1493596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Revue Neurologique"],"published-print":{"date-parts":[[2017,5]]},"DOI":"10.1016\/j.neurol.2017.03.030","type":"journal-article","created":{"date-parts":[[2017,4,25]],"date-time":"2017-04-25T14:16:05Z","timestamp":1493129765000},"page":"254-262","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":56,"title":["Genetics of amyotrophic lateral sclerosis"],"prefix":"10.1016","volume":"173","author":[{"given":"P.","family":"Corcia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Couratier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Blasco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.R.","family":"Andres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Beltran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Meininger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Vourc\u2019h","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurol.2017.03.030_bib0390","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1056\/NEJM200105313442207","article-title":"Amyotrophic lateral sclerosis","volume":"344","author":"Rowland","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1016\/j.neurol.2017.03.030_bib0395","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.neurol.2017.03.030_bib0400","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/1750-1326-8-28","article-title":"Genetics of amyotrophic lateral sclerosis: an update","volume":"8","author":"Chen","year":"2013","journal-title":"Mol Neurodegener"},{"key":"10.1016\/j.neurol.2017.03.030_bib0405","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1038\/ng.3622","article-title":"Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis","volume":"48","author":"van Rheenen","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.neurol.2017.03.030_bib0410","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1007\/s11910-009-0030-9","article-title":"Recent advances in the genetics of amyotrophic lateral sclerosis","volume":"9","author":"Valdmanis","year":"2009","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.neurol.2017.03.030_bib0415","doi-asserted-by":"crossref","first-page":"11253","DOI":"10.1038\/ncomms11253","article-title":"CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia","volume":"7","author":"Williams","year":"2016","journal-title":"Nat Commun"},{"key":"10.1016\/j.neurol.2017.03.030_bib0420","doi-asserted-by":"crossref","first-page":"157","DOI":"10.3109\/17482968.2010.545420","article-title":"Proposed criteria for familial amyotrophic lateral sclerosis","volume":"12","author":"Byrne","year":"2011","journal-title":"Amyotroph Lateral Scler"},{"key":"10.1016\/j.neurol.2017.03.030_bib0425","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1212\/WNL.5.3.182","article-title":"Epidemiologic investigations of amyotrophic lateral sclerosis: 2. Familial aggregations indicative of dominant inheritance. Part I","volume":"5","author":"Kurland","year":"1955","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2017.03.030_bib0430","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1212\/WNL.5.4.249","article-title":"Epidemiologic investigations of amyotrophic lateral sclerosis: 2. Familial aggregations indicative of dominant inheritance. Part II","volume":"5","author":"Kurland","year":"1955","journal-title":"Neurology"},{"issue":"Suppl 1","key":"10.1016\/j.neurol.2017.03.030_bib0435","doi-asserted-by":"crossref","first-page":"S21","DOI":"10.1016\/S0022-510X(99)00022-2","article-title":"Genetics of familial ALS and consequences for diagnosis. French ALS Research Group","volume":"165","author":"Camu","year":"1999","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.neurol.2017.03.030_bib0440","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/362059a0","article-title":"Mutations in Cu\/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis","volume":"362","author":"Rosen","year":"1993","journal-title":"Nature"},{"key":"10.1016\/j.neurol.2017.03.030_bib0445","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1038\/nrneurol.2011.150","article-title":"Clinical genetics of amyotrophic lateral sclerosis: what do we really know?","volume":"7","author":"Andersen","year":"2011","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0450","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1212\/WNL.0b013e3182553c88","article-title":"Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations","volume":"78","author":"Corcia","year":"2012","journal-title":"Neurology"},{"issue":"Pt 10","key":"10.1016\/j.neurol.2017.03.030_bib0455","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1093\/brain\/120.10.1723","article-title":"Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia","volume":"120","author":"Andersen","year":"1997","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2017.03.030_bib0460","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1126\/science.1134108","article-title":"Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"314","author":"Neumann","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.neurol.2017.03.030_bib0465","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/ana.21147","article-title":"Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations","volume":"61","author":"Mackenzie","year":"2007","journal-title":"Ann Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0470","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1038\/nature09320","article-title":"Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS","volume":"466","author":"Elden","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.neurol.2017.03.030_bib0475","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1038\/4661052a","article-title":"Neurodegeneration: an expansion in ALS genetics","volume":"466","author":"Lagier-Tourenne","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.neurol.2017.03.030_bib0480","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1126\/science.1165942","article-title":"Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6","volume":"323","author":"Vance","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.neurol.2017.03.030_bib0485","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1126\/science.1166066","article-title":"Mutations in the FUS\/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis","volume":"323","author":"Kwiatkowski","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.neurol.2017.03.030_bib0490","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1002\/humu.22319","article-title":"TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update","volume":"34","author":"Lattante","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.neurol.2017.03.030_bib0495","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.nmd.2011.08.003","article-title":"P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis","volume":"22","author":"Conte","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.neurol.2017.03.030_bib0500","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2015.08.005","article-title":"De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients","volume":"36","author":"H\u00fcbers","year":"2015","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0505","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1086\/425287","article-title":"A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis","volume":"75","author":"Nishimura","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.neurol.2017.03.030_bib0510","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/ng1742","article-title":"ANG mutations segregate with familial and \u201csporadic\u201d amyotrophic lateral sclerosis","volume":"38","author":"Greenway","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.neurol.2017.03.030_bib0515","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1001\/archneur.65.10.1333","article-title":"Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis","volume":"65","author":"Paubel","year":"2008","journal-title":"Arch Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0520","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3389\/fnins.2012.00167","article-title":"Molecular mechanisms in amyotrophic lateral sclerosis: the role of angiogenin, a secreted RNase","volume":"6","author":"Aparicio-Erriu","year":"2012","journal-title":"Front Neurosci"},{"key":"10.1016\/j.neurol.2017.03.030_bib0525","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1002\/ana.22611","article-title":"Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis","volume":"70","author":"van Es","year":"2011","journal-title":"Ann Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0530","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.neuron.2010.11.036","article-title":"Exome sequencing reveals VCP mutations as a cause of familial ALS","volume":"68","author":"Johnson","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.neurol.2017.03.030_bib0535","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/nature10353","article-title":"Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS\/dementia","volume":"477","author":"Deng","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.neurol.2017.03.030_bib0540","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2011.11.010","article-title":"Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis","volume":"33","author":"Millecamps","year":"2012","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0545","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s40035-015-0036-y","article-title":"Genotype\u2013phenotype relationship in hereditary amyotrophic lateral sclerosis","volume":"4","author":"Yamashita","year":"2015","journal-title":"Transl Neurodegener"},{"key":"10.1016\/j.neurol.2017.03.030_bib0550","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1086\/421054","article-title":"DNA\/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)","volume":"74","author":"Chen","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.neurol.2017.03.030_bib0555","doi-asserted-by":"crossref","first-page":"228","DOI":"10.3109\/17482968.2011.566930","article-title":"Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression","volume":"12","author":"Avemaria","year":"2011","journal-title":"Amyotroph Lateral Scler"},{"key":"10.1016\/j.neurol.2017.03.030_bib0560","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1001\/archneur.61.1.117","article-title":"Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11)","volume":"61","author":"Winner","year":"2004","journal-title":"Arch Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0565","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/brain\/awp325","article-title":"SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis","volume":"133","author":"Orlacchio","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2017.03.030_bib0570","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1136\/jnnp-2015-310734","article-title":"The cognitive profile of ALS: a systematic review and meta-analysis update","volume":"87","author":"Beeldman","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.neurol.2017.03.030_bib0575","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.tig.2015.03.005","article-title":"Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)","volume":"31","author":"Lattante","year":"2015","journal-title":"Trends Genet"},{"key":"10.1016\/j.neurol.2017.03.030_bib0580","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.neurol.2013.07.019","article-title":"Frontotemporal lobar degeneration and amyotrophic lateral sclerosis: molecular similarities and differences","volume":"169","author":"Neumann","year":"2013","journal-title":"Rev Neurol (Paris)"},{"key":"10.1016\/j.neurol.2017.03.030_bib0585","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.neurol.2017.03.030_bib0590","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.neubiorev.2016.03.033","article-title":"Distinct neurological disorders with C9orf72 mutations: genetics, pathogenesis, and therapy","volume":"66","author":"Chi","year":"2016","journal-title":"Neurosci Biobehav Rev"},{"key":"10.1016\/j.neurol.2017.03.030_bib0595","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1038\/nrneurol.2015.219","article-title":"Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport","volume":"11","author":"van Blitterswijk","year":"2015","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0600","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S1474-4422(12)70043-1","article-title":"Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study","volume":"11","author":"Majounie","year":"2012","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0605","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s00401-013-1237-z","article-title":"Mechanisms of toxicity in C9FTLD\/ALS","volume":"127","author":"Gendron","year":"2014","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0610","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1007\/s13311-015-0342-1","article-title":"The spectrum of C9orf72-mediated neurodegeneration and amyotrophic lateral sclerosis","volume":"12","author":"Cooper-Knock","year":"2015","journal-title":"Neurotherapeutics"},{"key":"10.1016\/j.neurol.2017.03.030_bib0615","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1093\/brain\/aws001","article-title":"Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics","volume":"135","author":"Whitwell","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2017.03.030_bib0620","doi-asserted-by":"crossref","first-page":"148","DOI":"10.3109\/21678421.2013.838586","article-title":"Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis","volume":"15","author":"Byrne","year":"2014","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"10.1016\/j.neurol.2017.03.030_bib0625","doi-asserted-by":"crossref","first-page":"249","DOI":"10.3109\/21678421.2014.977296","article-title":"Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology","volume":"16","author":"Beer","year":"2015","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"10.1016\/j.neurol.2017.03.030_bib0630","doi-asserted-by":"crossref","first-page":"2329","DOI":"10.1093\/brain\/awu138","article-title":"A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement","volume":"137","author":"Bannwarth","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2017.03.030_bib0635","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2016.03.022","article-title":"Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients","volume":"42","author":"Teyssou","year":"2016","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0640","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2014.07.022","article-title":"Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients","volume":"35","author":"Chaussenot","year":"2014","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0645","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00401-013-1090-0","article-title":"Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology","volume":"125","author":"Teyssou","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0650","doi-asserted-by":"crossref","first-page":"11068","DOI":"10.1074\/jbc.M608787200","article-title":"p62 accumulates and enhances aggregate formation in model systems of familial amyotrophic lateral sclerosis","volume":"282","author":"Gal","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1016\/j.neurol.2017.03.030_bib0655","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1001\/archneurol.2011.250","article-title":"SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis","volume":"68","author":"Fecto","year":"2011","journal-title":"Arch Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0660","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2015.08.009","article-title":"TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts","volume":"36","author":"Le Ber","year":"2015","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0665","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1093\/brain\/awv358","article-title":"Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort","volume":"139","author":"Van Mossevelde","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2017.03.030_bib0670","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/nn.4000","article-title":"Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia","volume":"18","author":"Freischmidt","year":"2015","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.neurol.2017.03.030_bib0675","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2010.11.005","article-title":"Screening of OPTN in French familial amyotrophic lateral sclerosis","volume":"32","author":"Millecamps","year":"2011","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0680","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0140-6736(96)90343-8","article-title":"Association of apolipoprotein E &isin;4 allele with bulbar-onset motor neuron disease","volume":"347","author":"Al-Chalabi","year":"1996","journal-title":"Lancet"},{"key":"10.1016\/j.neurol.2017.03.030_bib0685","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/s100480050031","article-title":"Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis","volume":"1","author":"Siddique","year":"1998","journal-title":"Neurogenetics"},{"issue":"Suppl","key":"10.1016\/j.neurol.2017.03.030_bib0690","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/0022-510X(96)00085-8","article-title":"Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis","volume":"139","author":"Moulard","year":"1996","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.neurol.2017.03.030_bib0695","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1038\/nm.2901","article-title":"EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans","volume":"18","author":"Van Hoecke","year":"2012","journal-title":"Nat Med"},{"key":"10.1016\/j.neurol.2017.03.030_bib0700","doi-asserted-by":"crossref","first-page":"9004","DOI":"10.1073\/pnas.0812937106","article-title":"Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis","volume":"106","author":"Landers","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.neurol.2017.03.030_bib0705","doi-asserted-by":"crossref","first-page":"12335","DOI":"10.1073\/pnas.0914079107","article-title":"Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients","volume":"107","author":"Traynor","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.neurol.2017.03.030_bib0710","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2014.04.014","article-title":"Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study","volume":"35","author":"van Doormaal","year":"2014","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0715","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1001\/jamaneurol.2016.1114","article-title":"Association of a locus in the CAMTA1 gene with survival in patients with sporadic amyotrophic lateral sclerosis","volume":"73","author":"Fogh","year":"2016","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0720","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.neurol.2017.03.030_bib0725","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2011.10.029","article-title":"UNC13A is a modifier of survival in amyotrophic lateral sclerosis","volume":"33","author":"Diekstra","year":"2012","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0730","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2012.07.016","article-title":"UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study","volume":"34","author":"Chi\u00f2","year":"2013","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0735","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1126\/science.aaa3650","article-title":"Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways","volume":"347","author":"Cirulli","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.neurol.2017.03.030_bib0740","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1038\/ng.3626","article-title":"NEK1 variants confer susceptibility to amyotrophic lateral sclerosis","volume":"48","author":"Kenna","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.neurol.2017.03.030_bib0745","doi-asserted-by":"crossref","first-page":"e28","DOI":"10.1093\/brain\/aww033","article-title":"NEK1 mutations in familial amyotrophic lateral sclerosis","volume":"139","author":"Brenner","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.neurol.2017.03.030_bib0750","doi-asserted-by":"crossref","DOI":"10.1016\/j.neurobiolaging.2014.04.016","article-title":"Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers","volume":"35","author":"van Blitterswijk","year":"2014","journal-title":"Neurobiol Aging"},{"key":"10.1016\/j.neurol.2017.03.030_bib0755","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1212\/WNL.0000000000000778","article-title":"Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders","volume":"83","author":"Lattante","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.neurol.2017.03.030_bib0760","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/ana.24306","article-title":"Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes","volume":"77","author":"Cady","year":"2015","journal-title":"Ann Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0765","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/S1474-4422(14)70129-2","article-title":"Clinical trials in amyotrophic lateral sclerosis: why so many negative trials and how can trials be improved?","volume":"13","author":"Mitsumoto","year":"2014","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.neurol.2017.03.030_bib0770","doi-asserted-by":"crossref","DOI":"10.1007\/s12035-016-9993-0","article-title":"Development of therapeutics for C9ORF72 ALS\/FTD-related disorders","author":"Mis","year":"2016","journal-title":"Mol Neurobiol"}],"container-title":["Revue Neurologique"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378716303010?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378716303010?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,2]],"date-time":"2018-09-02T10:52:45Z","timestamp":1535885565000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0035378716303010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5]]},"references-count":77,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["S0035378716303010"],"URL":"https:\/\/doi.org\/10.1016\/j.neurol.2017.03.030","relation":{},"ISSN":["0035-3787"],"issn-type":[{"value":"0035-3787","type":"print"}],"subject":[],"published":{"date-parts":[[2017,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetics of amyotrophic lateral sclerosis","name":"articletitle","label":"Article Title"},{"value":"Revue Neurologique","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurol.2017.03.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}