{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T07:16:05Z","timestamp":1792826165110,"version":"4.5.0"},"reference-count":96,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2014,2,4]],"date-time":"2014-02-04T00:00:00Z","timestamp":1391472000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1007\/s00401-014-1251-9","type":"journal-article","created":{"date-parts":[[2014,2,3]],"date-time":"2014-02-03T09:34:54Z","timestamp":1391420094000},"page":"333-345","source":"Crossref","is-referenced-by-count":148,"title":["The widening spectrum of C9ORF72-related disease; genotype\/phenotype correlations and potential modifiers of clinical phenotype"],"prefix":"10.1007","volume":"127","author":[{"given":"Johnathan","family":"Cooper-Knock","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela J.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Kirby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,2,4]]},"reference":[{"issue":"3","key":"1251_CR1","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.ajhg.2013.01.011","volume":"92","author":"J Beck","year":"2013","unstructured":"Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J et al (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 92(3):345\u2013353. doi: 10.1016\/j.ajhg.2013.01.011","journal-title":"Am J Hum Genet"},{"issue":"2","key":"1251_CR2","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","volume":"72","author":"M DeJesus-Hernandez","year":"2011","unstructured":"DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A et al (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245\u2013256. doi: 10.1016\/j.neuron.2011.09.011","journal-title":"Neuron"},{"issue":"2","key":"1251_CR3","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","volume":"72","author":"AE Renton","year":"2011","unstructured":"Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A et al (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257\u2013268. doi: 10.1016\/j.neuron.2011.09.010","journal-title":"Neuron"},{"issue":"Pt 3","key":"1251_CR4","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1093\/brain\/awr365","volume":"135","author":"J Cooper-Knock","year":"2012","unstructured":"Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K et al (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 135(Pt 3):751\u2013764. doi: 10.1093\/brain\/awr365","journal-title":"Brain"},{"issue":"4","key":"1251_CR5","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S1474-4422(12)70043-1","volume":"11","author":"E Majounie","year":"2012","unstructured":"Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R et al (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11(4):323\u2013330. doi: 10.1016\/S1474-4422(12)70043-1","journal-title":"Lancet Neurol"},{"key":"1251_CR6","author":"L Benussi","year":"2013","unstructured":"Benussi L, Rossi G, Glionna M, Tonoli E, Piccoli E, Fostinelli S, Paterlini A, Flocco R, Albani D, Pantieri R, Cereda C, Forloni G, Tagliavini F, Binetti G, Ghidoni R (2013) C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: a Genotype-Phenotype Correlation Study. J Alzheimers Dis. doi: 10.3233\/JAD-131028","journal-title":"J Alzheimers Dis"},{"key":"1251_CR7","author":"D Galimberti","year":"2013","unstructured":"Galimberti D, Arosio B, Fenoglio C, Serpente M, Cioffi SM, Bonsi R, Rossi P, Abbate C, Mari D, Scarpini E (2013) Incomplete Penetrance of the C9ORF72 Hexanucleotide Repeat Expansions: frequency in a Cohort of Geriatric Non-Demented Subjects. J Alzheimers Dis. doi: 10.3233\/JAD-131172","journal-title":"J Alzheimers Dis"},{"issue":"12","key":"1251_CR8","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1007\/s00415-006-0195-y","volume":"253","author":"CA Johnston","year":"2006","unstructured":"Johnston CA, Stanton BR, Turner MR, Gray R, Blunt AH, Butt D, Ampong MA, Shaw CE, Leigh PN, Al-Chalabi A (2006) Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. J Neurol 253(12):1642\u20131643. doi: 10.1007\/s00415-006-0195-y","journal-title":"J Neurol"},{"issue":"19","key":"1251_CR9","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1212\/01.wnl.0000334277.16896.fa","volume":"71","author":"L Mercy","year":"2008","unstructured":"Mercy L, Hodges JR, Dawson K, Barker RA, Brayne C (2008) Incidence of early-onset dementias in Cambridgeshire, United Kingdom. Neurology 71(19):1496\u20131499. doi: 10.1212\/01.wnl.0000334277.16896.fa","journal-title":"Neurology"},{"issue":"17","key":"1251_CR10","doi-asserted-by":"crossref","first-page":"3776","DOI":"10.1093\/hmg\/dds199","volume":"21","author":"M Blitterswijk van","year":"2012","unstructured":"van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH (2012) Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 21(17):3776\u20133784. doi: 10.1093\/hmg\/dds199","journal-title":"Hum Mol Genet"},{"issue":"8","key":"1251_CR11","doi-asserted-by":"crossref","first-page":"1850.e1","DOI":"10.1016\/j.neurobiolaging.2012.02.017","volume":"33","author":"R Ferrari","year":"2012","unstructured":"Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, Pietrini P, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA, Murrell JR, Ghetti B, Wassermann EM, Grafman J, Hardy J et al (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging 33(8):1850.e1\u20131850.e11. doi: 10.1016\/j.neurobiolaging.2012.02.017","journal-title":"Neurobiol Aging"},{"key":"1251_CR12","author":"T Lashley","year":"2013","unstructured":"Lashley T, Rohrer JD, Mahoney C, Gordon E, Beck J, Mead S, Warren J, Rossor M, Revesz T (2013) A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia. Neuropathol Appl Neurobiol. doi: 10.1111\/nan.12100","journal-title":"Neuropathol Appl Neurobiol"},{"issue":"6","key":"1251_CR13","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1136\/jnnp.2010.224501","volume":"82","author":"S Byrne","year":"2011","unstructured":"Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, McLaughlin R, Hardiman O (2011) Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 82(6):623\u2013627. doi: 10.1136\/jnnp.2010.224501","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"12","key":"1251_CR14","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1136\/jnnp.2010.207464","volume":"81","author":"A Al-Chalabi","year":"2010","unstructured":"Al-Chalabi A, Fang F, Hanby MF, Leigh PN, Shaw CE, Ye W, Rijsdijk F (2010) An estimate of amyotrophic lateral sclerosis heritability using twin data. J Neurol Neurosurg Psychiatry 81(12):1324\u20131326. doi: 10.1136\/jnnp.2010.207464","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1251_CR15","first-page":"517","volume-title":"Amyotrophic lateral sclerosis","author":"EF Goodall","year":"2012","unstructured":"Goodall EF, Bury JJ, Cooper-Knock J, Shaw PJ, Kirby J (2012) Genetics of familial amyotrophic lateral sclerosis. In: Maurer MH (ed) Amyotrophic lateral sclerosis. Intech, Rijeka, pp 517\u2013536"},{"issue":"4","key":"1251_CR16","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1136\/jnnp-2012-302272","volume":"84","author":"T Konno","year":"2013","unstructured":"Konno T, Shiga A, Tsujino A, Sugai A, Kato T, Kanai K, Yokoseki A, Eguchi H, Kuwabara S, Nishizawa M, Takahashi H, Onodera O (2013) Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J Neurol Neurosurg Psychiatry 84(4):398\u2013401. doi: 10.1136\/jnnp-2012-302272","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"10","key":"1251_CR17","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/S1474-4422(10)70197-6","volume":"9","author":"A Shatunov","year":"2010","unstructured":"Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM et al (2010) Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 9(10):986\u2013994. doi: 10.1016\/S1474-4422(10)70197-6","journal-title":"Lancet Neurol"},{"issue":"1","key":"1251_CR18","doi-asserted-by":"crossref","first-page":"209.e3","DOI":"10.1016\/j.neurobiolaging.2011.08.005","volume":"33","author":"K Mok","year":"2012","unstructured":"Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chi\u00f2 A, Shatunov A, Boeve BF, Boxer AL, DeJesus-Hernandez M, Mackenzie IR, Waite A, Williams N et al (2012) Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 33(1):209.e3\u2013209.e8. doi: 10.1016\/j.neurobiolaging.2011.08.005","journal-title":"Neurobiol Aging"},{"issue":"1","key":"1251_CR19","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/ejhg.2012.98","volume":"21","author":"BN Smith","year":"2013","unstructured":"Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobagyi T, Al-Sarraj S et al (2013) The C9ORF72 expansion mutation is a common cause of ALS\u00a0\u00b1\u00a0FTD in Europe and has a single founder. Eur J Hum Genet 21(1):102\u2013108. doi: 10.1038\/ejhg.2012.98","journal-title":"Eur J Hum Genet"},{"issue":"10","key":"1251_CR20","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1212\/WNL.0b013e3182684634","volume":"79","author":"C Dobson-Stone","year":"2012","unstructured":"Dobson-Stone C, Hallupp M, Bartley L, Shepherd CE, Halliday GM, Schofield PR, Hodges JR, Kwok JB (2012) C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology 79(10):995\u20131001. doi: 10.1212\/WNL.0b013e3182684634","journal-title":"Neurology"},{"issue":"5","key":"1251_CR21","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1212\/01.WNL.0000049472.47709.3B","volume":"60","author":"MA Aguila del","year":"2003","unstructured":"del Aguila MA, Longstreth WT Jr, McGuire V, Koepsell TD, van Belle G (2003) Prognosis in amyotrophic lateral sclerosis: a population-based study. Neurology 60(5):813\u2013819","journal-title":"Neurology"},{"issue":"7645","key":"1251_CR22","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1136\/bmj.39493.511759.BE","volume":"336","author":"CJ McDermott","year":"2008","unstructured":"McDermott CJ, Shaw PJ (2008) Diagnosis and management of motor neurone disease. BMJ 336(7645):658\u2013662. doi: 10.1136\/bmj.39493.511759.BE","journal-title":"BMJ"},{"issue":"3","key":"1251_CR23","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1159\/000109902","volume":"15","author":"PM Preux","year":"1996","unstructured":"Preux PM, Couratier P, Boutros-Toni F, Salle JY, Tabaraud F, Bernet-Bernady P, Vallat JM, Dumas M (1996) Survival prediction in sporadic amyotrophic lateral sclerosis. Age and clinical form at onset are independent risk factors. Neuroepidemiology 15(3):153\u2013160","journal-title":"Neuroepidemiology"},{"issue":"2","key":"1251_CR24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4199\/C00093ED1V01Y201309GMM004","volume":"2","author":"J Cooper-Knock","year":"2013","unstructured":"Cooper-Knock J, Jenkins T, Shaw PJ (2013) Clinical and Molecular Aspects of Motor Neuron Disease. Colloq Ser Genomic Mol Med 2(2):1\u201360","journal-title":"Colloq Ser Genomic Mol Med"},{"issue":"1","key":"1251_CR25","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/S1474-4422(11)70261-7","volume":"11","author":"I Gijselinck","year":"2012","unstructured":"Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P et al (2012) A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 11(1):54\u201365. doi: 10.1016\/S1474-4422(11)70261-7","journal-title":"Lancet Neurol"},{"issue":"6","key":"1251_CR26","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s00401-011-0907-y","volume":"122","author":"ME Murray","year":"2011","unstructured":"Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW (2011) Clinical and neuropathologic heterogeneity of c9FTD\/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 122(6):673\u2013690. doi: 10.1007\/s00401-011-0907-y","journal-title":"Acta Neuropathol"},{"issue":"12","key":"1251_CR27","doi-asserted-by":"crossref","first-page":"2890.e7","DOI":"10.1016\/j.neurobiolaging.2013.06.009","volume":"34","author":"S Debray","year":"2013","unstructured":"Debray S, Race V, Crabb\u00e9 V, Herdewyn S, Matthijs G, Goris A, Dubois B, Thijs V, Robberecht W, Van Damme P (2013) Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study. Neurobiol Aging 34(12):2890.e7\u20132890.e12. doi: 10.1016\/j.neurobiolaging.2013.06.009","journal-title":"Neurobiol Aging"},{"issue":"10","key":"1251_CR28","doi-asserted-by":"crossref","first-page":"2528.e7","DOI":"10.1016\/j.neurobiolaging.2012.06.008","volume":"33","author":"A Ratti","year":"2012","unstructured":"Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D\u2019Ascenzo C, Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F et al (2012) C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol Aging 33(10):2528.e7\u20132528.e14. doi: 10.1016\/j.neurobiolaging.2012.06.008","journal-title":"Neurobiol Aging"},{"issue":"3","key":"1251_CR29","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/s00401-011-0937-5","volume":"123","author":"H Stewart","year":"2012","unstructured":"Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, DeJesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR (2012) Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol 123(3):409\u2013417. doi: 10.1007\/s00401-011-0937-5","journal-title":"Acta Neuropathol"},{"issue":"3","key":"1251_CR30","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/S1474-4422(12)70014-5","volume":"11","author":"S Byrne","year":"2012","unstructured":"Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C, McLaughlin RL, Iyer PM, O\u2019Brien C, Phukan J, Wynne B et al (2012) Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol 11(3):232\u2013240. doi: 10.1016\/S1474-4422(12)70014-5","journal-title":"Lancet Neurol"},{"issue":"1","key":"1251_CR31","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1002\/humu.22211","volume":"34","author":"A Garcia-Redondo","year":"2013","unstructured":"Garcia-Redondo A, Dols-Icardo O, Rojas-Garcia R, Esteban-Perez J, Cordero-Vazquez P, Munoz-Blanco JL, Catalina I, Gonzalez-Munoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, Lopez de Munain A et al (2013) Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat 34(1):79\u201382. doi: 10.1002\/humu.22211","journal-title":"Hum Mutat"},{"issue":"8","key":"1251_CR32","doi-asserted-by":"crossref","first-page":"1848.e15","DOI":"10.1016\/j.neurobiolaging.2012.02.011","volume":"33","author":"M Sabatelli","year":"2012","unstructured":"Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurr\u00f2 MR, Volanti P, Marinou K, Salvi F, Corbo M, Giannini F, Battistini S, Penco S, Lunetta C, Quattrone A, Gambardella A et al (2012) C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging 33(8):1848.e15\u20131848.e20. doi: 10.1016\/j.neurobiolaging.2012.02.011","journal-title":"Neurobiol Aging"},{"issue":"8","key":"1251_CR33","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1136\/jnnp-2012-304529","volume":"84","author":"KL Williams","year":"2013","unstructured":"Williams KL, Fifita JA, Vucic S, Durnall JC, Kiernan MC, Blair IP, Nicholson GA (2013) Pathophysiological insights into ALS with C9ORF72 expansions. J Neurol Neurosurg Psychiatry 84(8):931\u2013935. doi: 10.1136\/jnnp-2012-304529","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"1251_CR34","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1136\/jmedgenet-2011-100699","volume":"49","author":"S Millecamps","year":"2012","unstructured":"Millecamps S, Boillee S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Brunaud V, Corcia P, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W et al (2012) Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J Med Genet 49(4):258\u2013263. doi: 10.1136\/jmedgenet-2011-100699","journal-title":"J Med Genet"},{"issue":"Pt 3","key":"1251_CR35","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1093\/brain\/aws004","volume":"135","author":"BF Boeve","year":"2012","unstructured":"Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA et al (2012) Characterization of frontotemporal dementia and\/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 135(Pt 3):765\u2013783. doi: 10.1093\/brain\/aws004","journal-title":"Brain"},{"issue":"8","key":"1251_CR36","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/mds.25022","volume":"27","author":"S O\u2019Dowd","year":"2012","unstructured":"O\u2019Dowd S, Curtin D, Waite AJ, Roberts K, Pender N, Reid V, O\u2019Connell M, Williams NM, Morris HR, Traynor BJ, Lynch T (2012) C9ORF72 expansion in amyotrophic lateral sclerosis\/frontotemporal dementia also causes parkinsonism. Mov Disord 27(8):1072\u20131074. doi: 10.1002\/mds.25022","journal-title":"Mov Disord"},{"issue":"1","key":"1251_CR37","doi-asserted-by":"crossref","first-page":"26","DOI":"10.3109\/17482968.2012.725415","volume":"14","author":"C Akimoto","year":"2013","unstructured":"Akimoto C, Forsgren L, Linder J, Birve A, Backlund I, Andersson J, Nilsson AC, Alstermark H, Andersen PM (2013) No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Amyotroph Lateral Scler Frontotemporal Degener 14(1):26\u201329. doi: 10.3109\/17482968.2012.725415","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"issue":"5","key":"1251_CR38","doi-asserted-by":"crossref","first-page":"1519.e1","DOI":"10.1016\/j.neurobiolaging.2012.10.001","volume":"34","author":"MB Harms","year":"2013","unstructured":"Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA, Perlmutter JS, Goate A, Cruchaga C (2013) Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging 34(5):1519.e1\u20131519.e12. doi: 10.1016\/j.neurobiolaging.2012.10.001","journal-title":"Neurobiol Aging"},{"issue":"10","key":"1251_CR39","doi-asserted-by":"crossref","first-page":"2527.e1","DOI":"10.1016\/j.neurobiolaging.2012.05.007","volume":"33","author":"E Majounie","year":"2012","unstructured":"Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB (2012) Large C9orf72 repeat expansions are not a common cause of Parkinson\u2019s disease. Neurobiol Aging 33(10):2527.e1\u20132527.e2. doi: 10.1016\/j.neurobiolaging.2012.05.007","journal-title":"Neurobiol Aging"},{"key":"1251_CR40","author":"J Cooper-Knock","year":"2013","unstructured":"Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, Hartley J, Ince PG, McDermott CJ, Lashley T, Revesz T, Shaw PJ, Wood NW, Bandmann O (2013) C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study. Neurology. doi: 10.1212\/WNL.0b013e3182a2cc38","journal-title":"Neurology"},{"issue":"Pt 2","key":"1251_CR41","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1093\/brain\/aws357","volume":"136","author":"S Lesage","year":"2013","unstructured":"Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Durr A, Brice A, French Parkinson\u2019s Disease Genetics Study G (2013) C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain 136(Pt 2):385\u2013391. doi: 10.1093\/brain\/aws357","journal-title":"Brain"},{"issue":"1","key":"1251_CR42","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1136\/jnnp-2012-303326","volume":"84","author":"A Ismail","year":"2013","unstructured":"Ismail A, Cooper-Knock J, Highley JR, Milano A, Kirby J, Goodall E, Lowe J, Scott I, Constantinescu CS, Walters SJ, Price S, McDermott CJ, Sawcer S, Compston DA, Sharrack B et al (2013) Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72. J Neurol Neurosurg Psychiatry 84(1):79\u201387. doi: 10.1136\/jnnp-2012-303326","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"9","key":"1251_CR43","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1212\/WNL.0b013e3182661d14","volume":"79","author":"W Rheenen van","year":"2012","unstructured":"van Rheenen W, van Blitterswijk M, Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH, van den Berg LH (2012) Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 79(9):878\u2013882. doi: 10.1212\/WNL.0b013e3182661d14","journal-title":"Neurology"},{"issue":"5","key":"1251_CR44","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1212\/WNL.0b013e31826170f1","volume":"79","author":"NJ Rutherford","year":"2012","unstructured":"Rutherford NJ, DeJesus-Hernandez M, Baker MC, Kryston TB, Brown PE, Lomen-Hoerth C, Boylan K, Wszolek ZK, Rademakers R (2012) C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository. Neurology 79(5):482\u2013483. doi: 10.1212\/WNL.0b013e31826170f1","journal-title":"Neurology"},{"key":"1251_CR45","author":"TT Nielsen","year":"2013","unstructured":"Nielsen TT, Svenstrup K, Duno M, Nielsen JE (2013) Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. Spinal Cord. doi: 10.1038\/sc.2013.116","journal-title":"Spinal Cord"},{"issue":"5","key":"1251_CR46","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.biopsych.2013.01.031","volume":"74","author":"D Galimberti","year":"2013","unstructured":"Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, Fumagalli GG, Del Bo R, Bruni AC, Anfossi M, Clodomiro A, Cupidi C, Nacmias B, Sorbi S, Piaceri I et al (2013) Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation. Biol Psychiatry 74(5):384\u2013391. doi: 10.1016\/j.biopsych.2013.01.031","journal-title":"Biol Psychiatry"},{"issue":"10","key":"1251_CR47","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1212\/WNL.0b013e318268452e","volume":"79","author":"SJ Sha","year":"2012","unstructured":"Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, Khan B, Karydas A, Baker MC, DeJesus-Hernandez M, Pribadi M, Coppola G, Geschwind DH, Rademakers R, Lee SE et al (2012) Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology 79(10):1002\u20131011. doi: 10.1212\/WNL.0b013e318268452e","journal-title":"Neurology"},{"issue":"3","key":"1251_CR48","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1111\/j.1399-0004.2012.01903.x","volume":"83","author":"SG Lindquist","year":"2013","unstructured":"Lindquist SG, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg LH, Vestergaard K, Hjermind LE, Stokholm J, Andersen BB, Johannsen P, Nielsen JE (2013) Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 83(3):279\u2013283. doi: 10.1111\/j.1399-0004.2012.01903.x","journal-title":"Clin Genet"},{"key":"1251_CR49","author":"N Ticozzi","year":"2013","unstructured":"Ticozzi N, Tiloca C, Calini D, Gagliardi S, Altieri A, Colombrita C, Cereda C, Ratti A, Pezzoli G, Borroni B, Goldwurm S, Padovani A, Silani V (2013) C9orf72 repeat expansions are restricted to the ALS-FTD spectrum. Neurobiol Aging. doi: 10.1016\/j.neurobiolaging.2013.09.037","journal-title":"Neurobiol Aging"},{"issue":"1","key":"1251_CR50","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1186\/2051-5960-1-68","volume":"1","author":"DM Mann","year":"2013","unstructured":"Mann DM, Rollinson S, Robinson A, Bennion CJ, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S (2013) Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun 1(1):68. doi: 10.1186\/2051-5960-1-68","journal-title":"Acta Neuropathol Commun"},{"key":"1251_CR51","author":"DJ Hensman Moss","year":"2013","unstructured":"Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, Adamson G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S, Tabrizi SJ (2013) C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology. doi: 10.1212\/WNL.0000000000000061","journal-title":"Neurology"},{"issue":"1\u20132","key":"1251_CR52","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.jns.2013.09.013","volume":"335","author":"Y Liu","year":"2013","unstructured":"Liu Y, Yu JT, Sun FR, Ou JR, Qu SB, Tan L (2013) The clinical and pathological phenotypes of frontotemporal dementia with C9ORF72 mutations. J Neurol Sci 335(1\u20132):26\u201335. doi: 10.1016\/j.jns.2013.09.013","journal-title":"J Neurol Sci"},{"issue":"1","key":"1251_CR53","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1159\/000351859","volume":"3","author":"AL Kaivorinne","year":"2013","unstructured":"Kaivorinne AL, Bode MK, Paavola L, Tuominen H, Kallio M, Renton AE, Traynor BJ, Moilanen V, Remes AM (2013) Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration. Dement Geriatr Cogn Dis Extra 3(1):251\u2013262. doi: 10.1159\/000351859","journal-title":"Dement Geriatr Cogn Dis Extra"},{"key":"1251_CR54","author":"B Jiao","year":"2013","unstructured":"Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L (2013) Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Neurobiol Aging. doi: 10.1016\/j.neurobiolaging.2013.10.001","journal-title":"Neurobiol Aging"},{"issue":"9","key":"1251_CR55","doi-asserted-by":"crossref","first-page":"2234.e1","DOI":"10.1016\/j.neurobiolaging.2013.03.003","volume":"34","author":"AR Jones","year":"2013","unstructured":"Jones AR, Woollacott I, Shatunov A, Cooper-Knock J, Buchman V, Sproviero W, Smith B, Scott KM, Balendra R, Abel O, McGuffin P, Ellis CM, Shaw PJ, Morrison KE, Farmer A et al (2013) Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat. Neurobiol Aging 34(9):2234.e17\u20132234.e7. doi: 10.1016\/j.neurobiolaging.2013.03.003","journal-title":"Neurobiol Aging"},{"issue":"Pt 3","key":"1251_CR56","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1093\/brain\/awr354","volume":"135","author":"GY Hsiung","year":"2012","unstructured":"Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR (2012) Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain 135(Pt 3):709\u2013722. doi: 10.1093\/brain\/awr354","journal-title":"Brain"},{"issue":"4","key":"1251_CR57","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1136\/jnnp-2011-301883","volume":"83","author":"BK Khan","year":"2012","unstructured":"Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karydas AM, Wu T, Ketelle RS, Baker MC, Hernandez MD, Coppola G, Geschwind DH, Rademakers R, Lee SE et al (2012) Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. J Neurol Neurosurg Psychiatry 83(4):358\u2013364. doi: 10.1136\/jnnp-2011-301883","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"Pt 3","key":"1251_CR58","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/brain\/awr353","volume":"135","author":"J Simon-Sanchez","year":"2012","unstructured":"Simon-Sanchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE et al (2012) The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 135(Pt 3):723\u2013735. doi: 10.1093\/brain\/awr353","journal-title":"Brain"},{"issue":"Pt 3","key":"1251_CR59","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1093\/brain\/awr355","volume":"135","author":"JS Snowden","year":"2012","unstructured":"Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, Jones M, Gerhard A, Davidson YS, Robinson A, Gibbons L, Hu Q, DuPlessis D, Neary D, Mann DM et al (2012) Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135(Pt 3):693\u2013708. doi: 10.1093\/brain\/awr355","journal-title":"Brain"},{"issue":"3","key":"1251_CR60","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1001\/2013.jamaneurol.181","volume":"70","author":"T Langenhove Van","year":"2013","unstructured":"Van Langenhove T, van der Zee J, Gijselinck I, Engelborghs S, Vandenberghe R, Vandenbulcke M, De Bleecker J, Sieben A, Versijpt J, Ivanoiu A, Deryck O, Willems C, Dillen L, Philtjens S, Maes G et al (2013) Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. JAMA Neurol 70(3):365\u2013373. doi: 10.1001\/2013.jamaneurol.181","journal-title":"JAMA Neurol"},{"issue":"3","key":"1251_CR61","doi-asserted-by":"crossref","first-page":"455","DOI":"10.3233\/JAD-122302","volume":"35","author":"C Cerami","year":"2013","unstructured":"Cerami C, Marcone A, Galimberti D, Zamboni M, Fenoglio C, Serpente M, Scarpini E, Cappa SF (2013) Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9. J Alzheimers Dis 35(3):455\u2013462. doi: 10.3233\/JAD-122302","journal-title":"J Alzheimers Dis"},{"issue":"8","key":"1251_CR62","first-page":"e1845","volume":"33","author":"S Rollinson","year":"1846","unstructured":"Rollinson S, Halliwell N, Young K, Callister JB, Toulson G, Gibbons L, Davidson YS, Robinson AC, Gerhard A, Richardson A, Neary D, Snowden J, Mann DM (1846) Pickering-Brown SM (2012) Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer\u2019s disease. Neurobiol Aging 33(8):e1845\u2013e1846. doi: 10.1016\/j.neurobiolaging.2012.01.109","journal-title":"Neurobiol Aging"},{"issue":"1","key":"1251_CR63","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/2051-5960-1-50","volume":"1","author":"YS Davidson","year":"2013","unstructured":"Davidson YS, Robinson AC, Snowden JS, Mann DM (2013) Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer\u2019s disease. Acta Neuropathol Commun 1(1):50. doi: 10.1186\/2051-5960-1-50","journal-title":"Acta Neuropathol Commun"},{"issue":"6","key":"1251_CR64","doi-asserted-by":"crossref","first-page":"1712.e1","DOI":"10.1016\/j.neurobiolaging.2012.12.019","volume":"34","author":"R Cacace","year":"2013","unstructured":"Cacace R, Van Cauwenberghe C, Bettens K, Gijselinck I, van der Zee J, Engelborghs S, Vandenbulcke M, Van Dongen J, B\u00e4umer V, Dillen L, Mattheijssens M, Peeters K, Cruts M, Vandenberghe R, De Deyn PP et al (2013) C9orf72 G4C2 repeat expansions in Alzheimer\u2019s disease and mild cognitive impairment. Neurobiol Aging 34(6):1712.e1\u20131712.e7. doi: 10.1016\/j.neurobiolaging.2012.12.019","journal-title":"Neurobiol Aging"},{"issue":"6","key":"1251_CR65","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1001\/2013.jamaneurol.537","volume":"70","author":"M Harms","year":"2013","unstructured":"Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, Mayeux R et al (2013) C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA Neurol 70(6):736\u2013741. doi: 10.1001\/2013.jamaneurol.537","journal-title":"JAMA Neurol"},{"issue":"5","key":"1251_CR66","doi-asserted-by":"crossref","first-page":"1519.e5","DOI":"10.1016\/j.neurobiolaging.2012.10.003","volume":"34","author":"MA Kohli","year":"2013","unstructured":"Kohli MA, John-Williams K, Rajbhandary R, Naj A, Whitehead P, Hamilton K, Carney RM, Wright C, Crocco E, Gwirtzman HE, Lang R, Beecham G, Martin ER, Gilbert J, Benatar M et al (2013) Repeat expansions in the C9ORF72 gene contribute to Alzheimer\u2019s disease in Caucasians. Neurobiol Aging 34(5):1519.e5\u20131519.e12. doi: 10.1016\/j.neurobiolaging.2012.10.003","journal-title":"Neurobiol Aging"},{"issue":"1","key":"1251_CR67","first-page":"107","volume":"1","author":"A Wojtas","year":"2012","unstructured":"Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R (2012) C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. Am J Neurodegener Dis 1(1):107\u2013118","journal-title":"Am J Neurodegener Dis"},{"issue":"10","key":"1251_CR68","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1136\/jnnp-2012-303032","volume":"83","author":"JS Snowden","year":"2012","unstructured":"Snowden JS, Rollinson S, Lafon C, Harris J, Thompson J, Richardson AM, Jones M, Gerhard A, Neary D, Mann DM, Pickering-Brown S (2012) Psychosis, C9ORF72 and dementia with Lewy bodies. J Neurol Neurosurg Psychiatry 83(10):1031\u20131032. doi: 10.1136\/jnnp-2012-303032","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"1251_CR69","doi-asserted-by":"crossref","first-page":"1309.e9","DOI":"10.1016\/j.neurobiolaging.2012.08.011","volume":"34","author":"ED Huey","year":"2013","unstructured":"Huey ED, Nagy PL, Rodriguez-Murillo L, Manoochehri M, Goldman J, Lieberman J, Karayiorgou M, Mayeux R (2013) C9ORF72 repeat expansions not detected in a group of patients with schizophrenia. Neurobiol Aging 34(4):1309.e9\u20131309.e10. doi: 10.1016\/j.neurobiolaging.2012.08.011","journal-title":"Neurobiol Aging"},{"key":"1251_CR70","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1326-8-12","volume":"8","author":"VL Buchman","year":"2013","unstructured":"Buchman VL, Cooper-Knock J, Connor-Robson N, Higginbottom A, Kirby J, Razinskaya OD, Ninkina N, Shaw PJ (2013) Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation. Mol Neurodegener 8:12. doi: 10.1186\/1750-1326-8-12","journal-title":"Mol Neurodegener"},{"issue":"10","key":"1251_CR71","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1016\/S1474-4422(13)70210-2","volume":"12","author":"M Blitterswijk van","year":"2013","unstructured":"van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, Serrano G, Beach TG, Josephs KA, Knopman DS, Petersen RC et al (2013) Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. Lancet Neurol 12(10):978\u2013988. doi: 10.1016\/S1474-4422(13)70210-2","journal-title":"Lancet Neurol"},{"key":"1251_CR72","author":"O Dols-Icardo","year":"2013","unstructured":"Dols-Icardo O, Garcia-Redondo A, Rojas-Garcia R, Sanchez-Valle R, Noguera A, Gomez-Tortosa E, Pastor P, Hernandez I, Esteban-Perez J, Suarez-Calvet M, Anton-Aguirre S, Amer G, Ortega-Cubero S, Blesa R, Fortea J et al (2013) Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Hum Mol Genet. doi: 10.1093\/hmg\/ddt460","journal-title":"Hum Mol Genet"},{"issue":"5","key":"1251_CR73","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s00439-006-0249-3","volume":"120","author":"RM Clark","year":"2007","unstructured":"Clark RM, De Biase I, Malykhina AP, Al-Mahdawi S, Pook M, Bidichandani SI (2007) The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum Genet 120(5):633\u2013640. doi: 10.1007\/s00439-006-0249-3","journal-title":"Hum Genet"},{"issue":"2","key":"1251_CR74","doi-asserted-by":"crossref","first-page":"e56899","DOI":"10.1371\/journal.pone.0056899","volume":"8","author":"C Dobson-Stone","year":"2013","unstructured":"Dobson-Stone C, Hallupp M, Loy CT, Thompson EM, Haan E, Sue CM, Panegyres PK, Razquin C, Seijo-Martinez M, Rene R, Gascon J, Campdelacreu J, Schmoll B, Volk AE, Brooks WS et al (2013) C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PLoS One 8(2):e56899. doi: 10.1371\/journal.pone.0056899","journal-title":"PLoS One"},{"issue":"12","key":"1251_CR75","doi-asserted-by":"crossref","first-page":"2950.e5","DOI":"10.1016\/j.neurobiolaging.2012.07.005","volume":"33","author":"NJ Rutherford","year":"2012","unstructured":"Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C et al (2012) Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging 33(12):2950.e5\u20132950.e7. doi: 10.1016\/j.neurobiolaging.2012.07.005","journal-title":"Neurobiol Aging"},{"issue":"Pt 3","key":"1251_CR76","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1093\/brain\/awr366","volume":"135","author":"A Chio","year":"2012","unstructured":"Chio A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F et al (2012) Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 135(Pt 3):784\u2013793. doi: 10.1093\/brain\/awr366","journal-title":"Brain"},{"issue":"6","key":"1251_CR77","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1089\/gtmb.2010.0073","volume":"14","author":"J Radvansky","year":"2010","unstructured":"Radvansky J, Kadasi L (2010) The expanding world of myotonic dystrophies: how can they be detected? Genet Test Mol Biomarkers 14(6):733\u2013741. doi: 10.1089\/gtmb 2010.0073","journal-title":"Genet Test Mol Biomarkers"},{"issue":"4","key":"1251_CR78","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.neuron.2013.02.004","volume":"77","author":"PE Ash","year":"2013","unstructured":"Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD\/ALS. Neuron 77(4):639\u2013646. doi: 10.1016\/j.neuron.2013.02.004","journal-title":"Neuron"},{"issue":"6125","key":"1251_CR79","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1126\/science.1232927","volume":"339","author":"K Mori","year":"2013","unstructured":"Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD\/ALS. Science 339(6125):1335\u20131338. doi: 10.1126\/science.1232927","journal-title":"Science"},{"issue":"2","key":"1251_CR80","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.neuron.2013.10.015","volume":"80","author":"CJ Donnelly","year":"2013","unstructured":"Donnelly CJ, Zhang PW, Pham JT, Heusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J et al (2013) RNA toxicity from the ALS\/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80(2):415\u2013428. doi: 10.1016\/j.neuron.2013.10.015","journal-title":"Neuron"},{"issue":"208","key":"1251_CR81","doi-asserted-by":"crossref","first-page":"208ra149","DOI":"10.1126\/scitranslmed.3007529","volume":"5","author":"D Sareen","year":"2013","unstructured":"Sareen D, O\u2019Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB et al (2013) Targeting RNA foci in iPSC-Derived Motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med 5(208):208ra149. doi: 10.1126\/scitranslmed.3007529","journal-title":"Sci Transl Med"},{"key":"1251_CR82","author":"C Lagier-Tourenne","year":"2013","unstructured":"Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M et al (2013) Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci USA. doi: 10.1073\/pnas.1318835110","journal-title":"Proc Natl Acad Sci USA"},{"key":"1251_CR83","author":"T Zu","year":"2013","unstructured":"Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC, Ranum LP (2013) RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci USA. doi: 10.1073\/pnas.1315438110","journal-title":"Proc Natl Acad Sci USA"},{"issue":"4","key":"1251_CR84","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1212\/WNL.0b013e31827f08ea","volume":"80","author":"E Gomez-Tortosa","year":"2013","unstructured":"Gomez-Tortosa E, Gallego J, Guerrero-Lopez R, Marcos A, Gil-Neciga E, Sainz MJ, Diaz A, Franco-Macias E, Trujillo-Tiebas MJ, Ayuso C, Perez-Perez J (2013) C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. Neurology 80(4):366\u2013370. doi: 10.1212\/WNL.0b013e31827f08ea","journal-title":"Neurology"},{"key":"1251_CR85","author":"S Byrne","year":"2013","unstructured":"Byrne S, Heverin M, Elamin M, Walsh C, Hardiman O (2013) Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. doi: 10.3109\/21678421.2013.838586","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener"},{"key":"1251_CR86","author":"J Cooper-Knock","year":"2013","unstructured":"Cooper-Knock J, Higginbottom A, Connor-Robson N, Bayatti N, Bury JJ, Kirby J, Ninkina N, Buchman VL, Shaw PJ (2013) C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles. Neurology. doi: 10.1212\/01.wnl.0000435295.41974.2e","journal-title":"Neurology"},{"issue":"6","key":"1251_CR87","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/j.ajhg.2013.04.017","volume":"92","author":"Z Xi","year":"2013","unstructured":"Xi Z, Zinman L, Moreno D, Schymick J, Liang Y, Sato C, Zheng Y, Ghani M, Dib S, Keith J, Robertson J, Rogaeva E (2013) Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet 92(6):981\u2013989. doi: 10.1016\/j.ajhg.2013.04.017","journal-title":"Am J Hum Genet"},{"issue":"3","key":"1251_CR88","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/ng.536","volume":"42","author":"VM Deerlin Van","year":"2010","unstructured":"Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P et al (2010) Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 42(3):234\u2013239. doi: 10.1038\/ng.536","journal-title":"Nat Genet"},{"issue":"6","key":"1251_CR89","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1111\/jnc.12329","volume":"126","author":"AM Nicholson","year":"2013","unstructured":"Nicholson AM, Finch NA, Wojtas A, Baker MC, Perkerson RB 3rd, Castanedes-Casey M, Rousseau L, Benussi L, Binetti G, Ghidoni R, Hsiung GY, Mackenzie IR, Finger E, Boeve BF, Ertekin-Taner N et al (2013) TMEM106B p. T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. J Neurochem 126(6):781\u2013791. doi: 10.1111\/jnc.12329","journal-title":"J Neurochem"},{"key":"1251_CR90","doi-asserted-by":"crossref","unstructured":"Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B, Rohrer JD, Halliday G, Van Broeckhoven C, Seilhean D, Shaw PJ et al (2013) TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol [Epub ahead of print]","DOI":"10.1007\/s00401-013-1239-x"},{"issue":"4","key":"1251_CR91","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1093\/bioinformatics\/bts725","volume":"29","author":"TP Levine","year":"2013","unstructured":"Levine TP, Daniels RD, Gatta AT, Wong LH, Hayes MJ (2013) The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 29(4):499\u2013503. doi: 10.1093\/bioinformatics\/bts725","journal-title":"Bioinformatics"},{"key":"1251_CR92","author":"M Blitterswijk van","year":"2014","unstructured":"van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, Dejesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A et al (2014) TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol. doi: 10.1007\/s00401-013-1240-4","journal-title":"Acta Neuropathol"},{"issue":"1\u20132","key":"1251_CR93","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.jneuroim.2010.03.004","volume":"222","author":"T Tateishi","year":"2010","unstructured":"Tateishi T, Yamasaki R, Tanaka M, Matsushita T, Kikuchi H, Isobe N, Ohyagi Y, Kira J (2010) CSF chemokine alterations related to the clinical course of amyotrophic lateral sclerosis. J Neuroimmunol 222(1\u20132):76\u201381. doi: 10.1016\/j.jneuroim.2010.03.004","journal-title":"J Neuroimmunol"},{"issue":"3","key":"1251_CR94","first-page":"691","volume":"140","author":"T Kawamata","year":"1992","unstructured":"Kawamata T, Akiyama H, Yamada T, McGeer PL (1992) Immunologic reactions in amyotrophic lateral sclerosis brain and spinal cord tissue. Am J Pathol 140(3):691\u2013707","journal-title":"Am J Pathol"},{"issue":"3","key":"1251_CR95","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/j.nbd.2003.12.012","volume":"15","author":"MR Turner","year":"2004","unstructured":"Turner MR, Cagnin A, Turkheimer FE, Miller CC, Shaw CE, Brooks DJ, Leigh PN, Banati RB (2004) Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an [11C](R)-PK11195 positron emission tomography study. Neurobiol Dis 15(3):601\u2013609. doi: 10.1016\/j.nbd.2003.12.012","journal-title":"Neurobiol Dis"},{"issue":"1","key":"1251_CR96","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/emmm.201201544","volume":"5","author":"JS Henkel","year":"2013","unstructured":"Henkel JS, Beers DR, Wen S, Rivera AL, Toennis KM, Appel JE, Zhao W, Moore DH, Powell SZ, Appel SH (2013) Regulatory T-lymphocytes mediate amyotrophic lateral sclerosis progression and survival. EMBO Mol Med 5(1):64\u201379. doi: 10.1002\/emmm.201201544","journal-title":"EMBO Mol Med"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00401-014-1251-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-014-1251-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-014-1251-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T04:16:20Z","timestamp":1565151380000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00401-014-1251-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,4]]},"references-count":96,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["1251"],"URL":"https:\/\/doi.org\/10.1007\/s00401-014-1251-9","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.718264712.793529752","asserted-by":"object"}]},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,4]]}}}