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Volumn 11, Issue 3, 2012, Pages 232-240

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study

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Indexed keywords

REPETITIVE DNA;

EID: 84857050135     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(12)70014-5     Document Type: Article
Times cited : (406)

References (27)
  • 1
    • 84155172791 scopus 로고    scopus 로고
    • The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study
    • Phukan J, Elamin M, Bede P, et al. The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study. J Neurol Neurosurg Psychiatry 2011, 83:102-108.
    • (2011) J Neurol Neurosurg Psychiatry , vol.83 , pp. 102-108
    • Phukan, J.1    Elamin, M.2    Bede, P.3
  • 2
    • 33645062075 scopus 로고    scopus 로고
    • A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
    • Morita M, Al-Chalabi A, Andersen PM, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006, 66:839-844.
    • (2006) Neurology , vol.66 , pp. 839-844
    • Morita, M.1    Al-Chalabi, A.2    Andersen, P.M.3
  • 3
    • 70349592269 scopus 로고    scopus 로고
    • Genome wide association study identifies 19p 13.3 (UNC13A) and 9p 21.2 as susceptibility loci for amyotrophic lateral sclerosis
    • Van Es MA, Veldink JH, Saris CG, et al. Genome wide association study identifies 19p 13.3 (UNC13A) and 9p 21.2 as susceptibility loci for amyotrophic lateral sclerosis. Nat Genet 2009, 41:1083-1087.
    • (2009) Nat Genet , vol.41 , pp. 1083-1087
    • Van Es, M.A.1    Veldink, J.H.2    Saris, C.G.3
  • 4
    • 77956877621 scopus 로고    scopus 로고
    • Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
    • Shatunov A, Mok K, Newhouse S, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010, 10:986-994.
    • (2010) Lancet Neurol , vol.10 , pp. 986-994
    • Shatunov, A.1    Mok, K.2    Newhouse, S.3
  • 5
    • 77956876046 scopus 로고    scopus 로고
    • Chromosome (p21 in amyotrophic lateral sclerosis in Finland: a genome wide association study
    • Laaksovirta H, Peuralinna T, Schymick JC, et al. Chromosome (p21 in amyotrophic lateral sclerosis in Finland: a genome wide association study. Lancet Neurol 2010, 10:978-985.
    • (2010) Lancet Neurol , vol.10 , pp. 978-985
    • Laaksovirta, H.1    Peuralinna, T.2    Schymick, J.C.3
  • 6
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72:245-254.
    • (2011) Neuron , vol.72 , pp. 245-254
    • DeJesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3
  • 7
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p-21 linked ALS-FTD
    • Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p-21 linked ALS-FTD. Neuron 2011, 72:257-268.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 8
    • 37749032923 scopus 로고    scopus 로고
    • Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004
    • O'Toole O, Traynor BJ, Brennan P, et al. Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004. J Neurol Neurosurg Psychiatry 2008, 79:30-33.
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 30-33
    • O'Toole, O.1    Traynor, B.J.2    Brennan, P.3
  • 9
    • 0033017569 scopus 로고    scopus 로고
    • Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study
    • Traynor BJ, Codd MB, Corr B, et al. Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study. Neurology 1999, 52:504-509.
    • (1999) Neurology , vol.52 , pp. 504-509
    • Traynor, B.J.1    Codd, M.B.2    Corr, B.3
  • 10
    • 79954621879 scopus 로고    scopus 로고
    • Executive dysfunction is a negative prognostic indicator in patients with ALS without dementia
    • Elamin M, Phukan J, Bede P, et al. Executive dysfunction is a negative prognostic indicator in patients with ALS without dementia. Neurology 2011, 76:1263-1269.
    • (2011) Neurology , vol.76 , pp. 1263-1269
    • Elamin, M.1    Phukan, J.2    Bede, P.3
  • 11
    • 35348817330 scopus 로고    scopus 로고
    • Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
    • Browning SR, Browning BL Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet 2007, 81:1084-1097.
    • (2007) Am J Hum Genet , vol.81 , pp. 1084-1097
    • Browning, S.R.1    Browning, B.L.2
  • 12
    • 0017891245 scopus 로고
    • Genetic Family History Questionnaire
    • Cole J, Conneally M, Hodes ME, et al. Genetic Family History Questionnaire. J Med Genet 1978, 1:10-18.
    • (1978) J Med Genet , vol.1 , pp. 10-18
    • Cole, J.1    Conneally, M.2    Hodes, M.E.3
  • 13
    • 0033933649 scopus 로고    scopus 로고
    • Voxel-based morphometry-the methods
    • Ashburner J, Friston KJ Voxel-based morphometry-the methods. Neuroimage 2000, 11:805-821.
    • (2000) Neuroimage , vol.11 , pp. 805-821
    • Ashburner, J.1    Friston, K.J.2
  • 14
    • 0002002528 scopus 로고
    • A simplified Monte Carlo significance test procedure
    • Hope ACA A simplified Monte Carlo significance test procedure. J Roy Statist Soc 1968, B30:582-598.
    • (1968) J Roy Statist Soc , vol.B30 , pp. 582-598
    • Hope, A.C.A.1
  • 15
    • 0032692481 scopus 로고    scopus 로고
    • The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III)
    • Cedarbaum JM, Stambler N, Malta E, et al. The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J Neurol Sci 1999, 31:13-21.
    • (1999) J Neurol Sci , vol.31 , pp. 13-21
    • Cedarbaum, J.M.1    Stambler, N.2    Malta, E.3
  • 16
    • 81355146748 scopus 로고    scopus 로고
    • The chromosome 9 ALS and FTD locus is probably derived from a single founder
    • Mok K, Traynor BJ, Schymick J, et al. The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 2012, 33:209.
    • (2012) Neurobiol Aging , vol.33 , pp. 209
    • Mok, K.1    Traynor, B.J.2    Schymick, J.3
  • 17
    • 0033190769 scopus 로고    scopus 로고
    • Assessing frontal lobe behavioral syndromes with the frontal lobe personality scale
    • Grace J, Stout JC, Malloy PF Assessing frontal lobe behavioral syndromes with the frontal lobe personality scale. Assessment 1999, 6:269-284.
    • (1999) Assessment , vol.6 , pp. 269-284
    • Grace, J.1    Stout, J.C.2    Malloy, P.F.3
  • 18
    • 80755128213 scopus 로고    scopus 로고
    • Clinical diagnosis and management of amyotrophic lateral sclerosis
    • Hardiman O, van den Berg LH, Kiernan MC Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat Rev Neurol 2011, 71:639-649.
    • (2011) Nat Rev Neurol , vol.71 , pp. 639-649
    • Hardiman, O.1    van den Berg, L.H.2    Kiernan, M.C.3
  • 19
    • 0036754864 scopus 로고    scopus 로고
    • Executive control function: a review of its promise and challenges for clinical research
    • Royall DR, Lauterbach EC, Cummings JL, et al. Executive control function: a review of its promise and challenges for clinical research. J Neurol Neurosurg Psychiatry 2002, 14:377-405.
    • (2002) J Neurol Neurosurg Psychiatry , vol.14 , pp. 377-405
    • Royall, D.R.1    Lauterbach, E.C.2    Cummings, J.L.3
  • 20
    • 3142628291 scopus 로고    scopus 로고
    • Word retrieval in amyotrophic lateral sclerosis: a functional magnetic resonance imaging study
    • Abrahams S, Goldstein LH, Simmons M, et al. Word retrieval in amyotrophic lateral sclerosis: a functional magnetic resonance imaging study. Brain 2004, 127:1507-1517.
    • (2004) Brain , vol.127 , pp. 1507-1517
    • Abrahams, S.1    Goldstein, L.H.2    Simmons, M.3
  • 21
    • 16244409502 scopus 로고    scopus 로고
    • Neural correlates of distance and congruity effects in a numerical Stroop task: An event-related fMRI study
    • Kaufmann L, Koppelstaetter F, Delazer M, et al. Neural correlates of distance and congruity effects in a numerical Stroop task: An event-related fMRI study. Neuroimage 2005, 15:888-898.
    • (2005) Neuroimage , vol.15 , pp. 888-898
    • Kaufmann, L.1    Koppelstaetter, F.2    Delazer, M.3
  • 22
    • 77956629840 scopus 로고    scopus 로고
    • Neurobehavioural symptoms in ALS are negatively related to caregivers' burden and quality of life
    • Chio A, Vignola A, Mastro E, et al. Neurobehavioural symptoms in ALS are negatively related to caregivers' burden and quality of life. Eur J Neurol 2010, 10:1298-1303.
    • (2010) Eur J Neurol , vol.10 , pp. 1298-1303
    • Chio, A.1    Vignola, A.2    Mastro, E.3
  • 23
    • 0031672540 scopus 로고    scopus 로고
    • Frontemporal lobar degeneration. A consensus clinical diagnostic criteria
    • Neary D, Snowdon JS, Gustafson L, et al. Frontemporal lobar degeneration. A consensus clinical diagnostic criteria. Neurology 1998, 51:1546-1554.
    • (1998) Neurology , vol.51 , pp. 1546-1554
    • Neary, D.1    Snowdon, J.S.2    Gustafson, L.3
  • 24
    • 79955777846 scopus 로고    scopus 로고
    • Proposed criteria for familial amyotrophic lateral sclerosis
    • Byrne S, Bede P, Elamin M, et al. Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011, 12:157-159.
    • (2011) Amyotroph Lateral Scler , vol.12 , pp. 157-159
    • Byrne, S.1    Bede, P.2    Elamin, M.3
  • 25
    • 84857041955 scopus 로고    scopus 로고
    • Absence of consensus in diagnostic criteria for familial neurodegenerative diseases
    • (in press).
    • Byrne S, Elamin M, Bede P, et al. Absence of consensus in diagnostic criteria for familial neurodegenerative diseases. J Neurol Neurosurg Psychiatry 2012, (in press).
    • (2012) J Neurol Neurosurg Psychiatry
    • Byrne, S.1    Elamin, M.2    Bede, P.3
  • 26
    • 83555166183 scopus 로고    scopus 로고
    • 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
    • Gijselinck I, Van Langenhove T, van der Zee J, et al. 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 2012, 11:54-65.
    • (2012) Lancet Neurol , vol.11 , pp. 54-65
    • Gijselinck, I.1    Van Langenhove, T.2    van der Zee, J.3
  • 27
    • 84857054634 scopus 로고    scopus 로고
    • Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
    • (in press).
    • Cooper-Knock J, Hewitt C, Robin Highley J, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012, (in press).
    • (2012) Brain
    • Cooper-Knock, J.1    Hewitt, C.2    Robin Highley, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.