메뉴 건너뛰기




Volumn 49, Issue 1, 2014, Pages 386-398

C9ORF72 mutations in neurodegenerative diseases

Author keywords

Alzheimer's disease; Amyotrophic lateral sclerosis; C9ORF72; Frontotemporal dementia; Mutation; Neurodegeneration; Therapy

Indexed keywords

ALZHEIMER DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; C9ORF72 GENE; CHROMOSOME 9; DEGENERATIVE DISEASE; FRONTOTEMPORAL DEMENTIA; GENE; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUNTINGTON DISEASE LIKE SYNDROME; NEUROPATHOLOGY; OPEN READING FRAME; PARKINSONISM; PHENOTYPE; PRIMARY LATERAL SCLEROSIS; PRIMARY PROGRESSIVE APHASIA; PROGRESSIVE MUSCULAR ATROPHY; PROTEIN EXPRESSION; REVIEW;

EID: 84894351392     PISSN: 08937648     EISSN: 15591182     Source Type: Journal    
DOI: 10.1007/s12035-013-8528-1     Document Type: Review
Times cited : (25)

References (99)
  • 9
    • 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
    • 10.1016/S1474-4422(11)70261-7
    • Ilse Gijselinck TVL, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J (2012) A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Lancet neurology 11(1):11. doi: 10.1016/S1474- 4422(11)70261-7
    • (2012) Lancet Neurology , vol.11 , Issue.1 , pp. 11
    • Ilse Gijselinck, T.V.L.1    Van Der Zee, J.2    Sleegers, K.3    Philtjens, S.4    Kleinberger, G.5    Janssens, J.6
  • 10
    • 84864910042 scopus 로고    scopus 로고
    • Dystrophic neurites express C9orf72 in Alzheimer's disease brains
    • 10.1186/alzrt136 1:CAS:528:DC%2BC38Xhsl2jsb7I 10.1186/alzrt136
    • Satoh J, Tabunoki H, Ishida T, Saito Y, Arima K (2012) Dystrophic neurites express C9orf72 in Alzheimer's disease brains. Alzheimer's research & therapy 4(4):33. doi: 10.1186/alzrt136
    • (2012) Alzheimer's Research & Therapy , vol.4 , Issue.4 , pp. 33
    • Satoh, J.1    Tabunoki, H.2    Ishida, T.3    Saito, Y.4    Arima, K.5
  • 15
    • 84861130735 scopus 로고    scopus 로고
    • Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis
    • 10.1093/hmg/dds055 1:CAS:528:DC%2BC38XmvVygu7k%3D 10.1093/hmg/dds055 22343411
    • Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P (2012) Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Human molecular genetics 21(11):2412-2419. doi: 10.1093/hmg/dds055
    • (2012) Human Molecular Genetics , vol.21 , Issue.11 , pp. 2412-2419
    • Herdewyn, S.1    Zhao, H.2    Moisse, M.3    Race, V.4    Matthijs, G.5    Reumers, J.6    Kusters, B.7    Schelhaas, H.J.8    Van Den Berg, L.H.9    Goris, A.10    Robberecht, W.11    Lambrechts, D.12    Van Damme, P.13
  • 17
    • 84871801926 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
    • doi: 10.1038/srep01016
    • Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G, Isaacs AM (2012) C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Scientific reports 2:1016. doi: 10.1038/srep01016
    • (2012) Scientific Reports , vol.2 , pp. 1016
    • Fratta, P.1    Mizielinska, S.2    Nicoll, A.J.3    Zloh, M.4    Fisher, E.M.5    Parkinson, G.6    Isaacs, A.M.7
  • 20
    • 84870061250 scopus 로고    scopus 로고
    • Ultrastructure of ubiquitin-positive, TDP-43-negative neuronal inclusions in cerebral cortex of C9ORF72-linked frontotemporal lobar degeneration/ amyotrophic lateral sclerosis
    • 10.1111/j.1440-1789.2012.01305.x 10.1111/j.1440-1789.2012.01305.x
    • Lin W, Dickson DW (2012) Ultrastructure of ubiquitin-positive, TDP-43-negative neuronal inclusions in cerebral cortex of C9ORF72-linked frontotemporal lobar degeneration/amyotrophic lateral sclerosis. Neuropathol: official J of the Japanese Soc of Neuropathol 32(6):679-681. doi: 10.1111/j.1440-1789.2012.01305.x
    • (2012) Neuropathol: Official J of the Japanese Soc of Neuropathol , vol.32 , Issue.6 , pp. 679-681
    • Lin, W.1    Dickson, D.W.2
  • 21
    • 84878860968 scopus 로고    scopus 로고
    • Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant
    • 10.1007/s00401-012-1050-0 1:CAS:528:DC%2BC3sXhtlGnsLs%3D 10.1007/s00401-012-1050-0 23053136
    • King A, Al-Sarraj S, Troakes C, Smith BN, Maekawa S, Iovino M, Spillantini MG, Shaw CE (2013) Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant. Acta neuropathologica 125(2):303-310. doi: 10.1007/s00401-012-1050-0
    • (2013) Acta Neuropathologica , vol.125 , Issue.2 , pp. 303-310
    • King, A.1    Al-Sarraj, S.2    Troakes, C.3    Smith, B.N.4    Maekawa, S.5    Iovino, M.6    Spillantini, M.G.7    Shaw, C.E.8
  • 22
    • 82355180826 scopus 로고    scopus 로고
    • P62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
    • 10.1007/s00401-011-0911-2 1:CAS:528:DC%2BC3MXhsFCms77F 10.1007/s00401-011-0911-2 22101323
    • Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T, Shaw CE (2011) p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta neuropathologica 122(6):691-702. doi: 10.1007/s00401-011-0911-2
    • (2011) Acta Neuropathologica , vol.122 , Issue.6 , pp. 691-702
    • Al-Sarraj, S.1    King, A.2    Troakes, C.3    Smith, B.4    Maekawa, S.5    Bodi, I.6    Rogelj, B.7    Al-Chalabi, A.8    Hortobagyi, T.9    Shaw, C.E.10
  • 28
    • 84872361069 scopus 로고    scopus 로고
    • Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis
    • doi: 10.1016/j.neurobiolaging.2012.09.004
    • Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, Kim SH (2013) Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 34 (4):1311 e1317-1319. doi: 10.1016/j.neurobiolaging.2012.09.004
    • (2013) Neurobiol Aging , vol.34 , Issue.4
    • Jang, J.H.1    Kwon, M.J.2    Choi, W.J.3    Oh, K.W.4    Koh, S.H.5    Ki, C.S.6    Kim, S.H.7
  • 29
    • 84875241102 scopus 로고    scopus 로고
    • Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients
    • 10.1016/j.neurobiolaging.2012.11.018 1:CAS:528:DC%2BC38XhvFWhtbvP
    • Zou ZY, Li XG, Liu MS, Cui LY (2013) Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. Neurobiol Aging 34(6):1710.e5-1710.e6. doi: 10.1016/j.neurobiolaging.2012.11.018
    • (2013) Neurobiol Aging , vol.34 , Issue.6
    • Zou, Z.Y.1    Li, X.G.2    Liu, M.S.3    Cui, L.Y.4
  • 34
    • 84861889360 scopus 로고
    • Houlden H (2012) High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
    • 10.1016/j.neurobiolaging.2012.02.021
    • Mok KY, Koutsis G, Schottlaender LV, Polke J, Panas M (1851) Houlden H (2012) High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiol Aging 33(8):e1851-1855. doi: 10.1016/j.neurobiolaging.2012.02.021
    • (1851) Neurobiol Aging , vol.33 , Issue.8 , pp. 1851-1855
    • Mok, K.Y.1    Koutsis, G.2    Schottlaender, L.V.3    Polke, J.4    Panas, M.5
  • 38
    • 84867334338 scopus 로고    scopus 로고
    • Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: A peculiar phenotype?
    • 10.1007/s00415-012-6444-3 10.1007/s00415-012-6444-3 22323211
    • Floris G, Borghero G, Cannas A, Di Stefano F, Costantino E, Murru MR, Brunetti M, Restagno G, Traynor BJ, Marrosu MG, Chio A, Marrosu F (2012) Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? Journal of neurology 259(8):1749-1751. doi: 10.1007/s00415-012-6444-3
    • (2012) Journal of Neurology , vol.259 , Issue.8 , pp. 1749-1751
    • Floris, G.1    Borghero, G.2    Cannas, A.3    Di Stefano, F.4    Costantino, E.5    Murru, M.R.6    Brunetti, M.7    Restagno, G.8    Traynor, B.J.9    Marrosu, M.G.10    Chio, A.11    Marrosu, F.12
  • 49
    • 84864393125 scopus 로고    scopus 로고
    • Large C9orf72 repeat expansions are not a common cause of Parkinson's disease
    • doi: 10.1016/j.neurobiolaging.2012.05.007
    • Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB (2012) Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging 33 (10):2527 e2521-2522. doi: 10.1016/j.neurobiolaging. 2012.05.007
    • (2012) Neurobiol Aging , vol.33 , Issue.10
    • Majounie, E.1    Abramzon, Y.2    Renton, A.E.3    Keller, M.F.4    Traynor, B.J.5    Singleton, A.B.6
  • 58
    • 84863482648 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan
    • doi: 10.1016/j.neurobiolaging.2012.05.002
    • Tsai C-P, Soong B-W, Tu P-H, Lin K-P, Fuh J-L, Tsai P-C, Lu Y-C, Lee IH, Lee Y-C (2012) A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. Neurobiology of Aging 33 (9):2232.e2211-2232.e2218. doi: 10.1016/j.neurobiolaging.2012.05.002
    • (2012) Neurobiology of Aging , vol.33 , Issue.9
    • Tsai, C.-P.1    Soong, B.-W.2    Tu, P.-H.3    Lin, K.-P.4    Fuh, J.-L.5    Tsai, P.-C.6    Lu, Y.-C.7    Lee, I.H.8    Lee, Y.-C.9
  • 60
    • 84878803626 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-parkinsonism-dementia complex
    • 10.1001/jamaneurol.2013.1817 10.1001/jamaneurol.2013.1817 23588498
    • Dombroski BA, Galasko DR, Mata IF, Zabetian CP, Craig UK, Garruto RM, Oyanagi K, Schellenberg GD (2013) C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-parkinsonism-dementia complex. JAMA neurology 70(6):742-745. doi: 10.1001/jamaneurol.2013.1817
    • (2013) JAMA Neurology , vol.70 , Issue.6 , pp. 742-745
    • Dombroski, B.A.1    Galasko, D.R.2    Mata, I.F.3    Zabetian, C.P.4    Craig, U.K.5    Garruto, R.M.6    Oyanagi, K.7    Schellenberg, G.D.8
  • 62
    • 84866093352 scopus 로고    scopus 로고
    • C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
    • 10.1212/WNL.0b013e3182684634 10.1212/WNL.0b013e3182684634 22875086
    • 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):995-1001. doi: 10.1212/WNL.0b013e3182684634
    • (2012) Neurology , vol.79 , Issue.10 , pp. 995-1001
    • Dobson-Stone, C.1    Hallupp, M.2    Bartley, L.3    Shepherd, C.E.4    Halliday, G.M.5    Schofield, P.R.6    Hodges, J.R.7    Kwok, J.B.8
  • 63
    • 84861867565 scopus 로고
    • Hardy J (2012) Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion
    • 10.1016/j.neurobiolaging.2012.02.019
    • Englund E, Gustafson L, Passant U, Majounie E, Renton AE, Traynor BJ, Rohrer JD, Mok K (1850) Hardy J (2012) Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiol Aging 33(8):e1813-1856. doi: 10.1016/j.neurobiolaging.2012.02.019
    • (1850) Neurobiol Aging , vol.33 , Issue.8 , pp. 1813-1856
    • Englund, E.1    Gustafson, L.2    Passant, U.3    Majounie, E.4    Renton, A.E.5    Traynor, B.J.6    Rohrer, J.D.7    Mok, K.8
  • 65
    • 84863572920 scopus 로고    scopus 로고
    • Cognitive and behavioral features of c9FTD/ALS
    • 10.1186/alzrt132 1:CAS:528:DC%2BC38Xht1GnsrnL 10.1186/alzrt132
    • Boeve BF, Graff-Radford NR (2012) Cognitive and behavioral features of c9FTD/ALS. Alzheimer's research & therapy 4(4):29. doi: 10.1186/alzrt132
    • (2012) Alzheimer's Research & Therapy , vol.4 , Issue.4 , pp. 29
    • Boeve, B.F.1    Graff-Radford, N.R.2
  • 66
    • 84862245802 scopus 로고    scopus 로고
    • Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis
    • 10.1371/journal.pone.0039216 1:CAS:528:DC%2BC38XptVOjsL0%3D 10.1371/journal.pone.0039216 3375234 22720079
    • Brettschneider J, Toledo JB, Van Deerlin VM, Elman L, McCluskey L, Lee VM, Trojanowski JQ (2012) Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis. PloS one 7(6):e39216. doi: 10.1371/journal.pone.0039216
    • (2012) PloS One , vol.7 , Issue.6 , pp. 39216
    • Brettschneider, J.1    Toledo, J.B.2    Van Deerlin, V.M.3    Elman, L.4    McCluskey, L.5    Lee, V.M.6    Trojanowski, J.Q.7
  • 67
    • 84861446524 scopus 로고    scopus 로고
    • Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: An Australian trio study
    • 10.1097/WNR.0b013e3283544718 1:CAS:528:DC%2BC38XnsVKrurw%3D 10.1097/WNR.0b013e3283544718 22564974
    • Pamphlett R, Cheong PL, Trent RJ, Yu B (2012) Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study. Neuroreport 23(9):556-559. doi: 10.1097/WNR. 0b013e3283544718
    • (2012) Neuroreport , vol.23 , Issue.9 , pp. 556-559
    • Pamphlett, R.1    Cheong, P.L.2    Trent, R.J.3    Yu, B.4
  • 68
    • 81855185515 scopus 로고    scopus 로고
    • Phenotypic signatures of genetic frontotemporal dementia
    • 10.1097/WCO.0b013e32834cd442 10.1097/WCO.0b013e32834cd442 21986680
    • Rohrer JD, Warren JD (2011) Phenotypic signatures of genetic frontotemporal dementia. Curr Opin Neurol 24(6):542-549. doi: 10.1097/WCO.0b013e32834cd442
    • (2011) Curr Opin Neurol , vol.24 , Issue.6 , pp. 542-549
    • Rohrer, J.D.1    Warren, J.D.2
  • 69
    • 84872111989 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene
    • 10.1007/s00415-012-6640-1 22918453
    • Calvo A, Moglia C, Canosa A, Cistaro A, Valentini C, Carrara G, Soldano E, Ilardi A, Bersano E, Bertuzzo D, Brunetti M, Ossola I, Restagno G, Chio A (2012) Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene. J Neurol 259(12):2723-2725. doi: 10.1007/s00415-012-6640-1
    • (2012) J Neurol , vol.259 , Issue.12 , pp. 2723-2725
    • Calvo, A.1    Moglia, C.2    Canosa, A.3    Cistaro, A.4    Valentini, C.5    Carrara, G.6    Soldano, E.7    Ilardi, A.8    Bersano, E.9    Bertuzzo, D.10    Brunetti, M.11    Ossola, I.12    Restagno, G.13    Chio, A.14
  • 77
    • 68349088087 scopus 로고    scopus 로고
    • Evaluation of subcortical pathology and clinical correlations in FTLD-U subtypes
    • 10.1007/s00401-009-0547-7 10.1007/s00401-009-0547-7 3044602 19455346
    • Josephs KA, Stroh A, Dugger B, Dickson DW (2009) Evaluation of subcortical pathology and clinical correlations in FTLD-U subtypes. Acta
    • (2009) Acta Neuropathologica , vol.118 , Issue.3 , pp. 349-358
    • Josephs, K.A.1    Stroh, A.2    Dugger, B.3    Dickson, D.W.4
  • 78
    • 84866699564 scopus 로고    scopus 로고
    • Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion
    • 10.1186/alzrt145 1:CAS:528:DC%2BC3sXit1CntL0%3D 10.1186/alzrt145
    • Downey LE, Mahoney CJ, Rossor MN, Crutch SJ, Warren JD (2012) Impaired self-other differentiation in frontotemporal dementia due to the C9ORF72 expansion. Alzheimer's research & therapy 4(5):42. doi: 10.1186/alzrt145
    • (2012) Alzheimer's Research & Therapy , vol.4 , Issue.5 , pp. 42
    • Downey, L.E.1    Mahoney, C.J.2    Rossor, M.N.3    Crutch, S.J.4    Warren, J.D.5
  • 83
    • 84861226898 scopus 로고    scopus 로고
    • Recent advances in the genetics of the ALS-FTLD complex
    • 10.1007/s11910-012-0268-5 1:CAS:528:DC%2BC38XmsF2jsbc%3D 10.1007/s11910-012-0268-5 22477152
    • Morris HR, Waite AJ, Williams NM, Neal JW, Blake DJ (2012) Recent advances in the genetics of the ALS-FTLD complex. Curr Neurol Neurosci Rep 12(3):243-250. doi: 10.1007/s11910-012-0268-5
    • (2012) Curr Neurol Neurosci Rep , vol.12 , Issue.3 , pp. 243-250
    • Morris, H.R.1    Waite, A.J.2    Williams, N.M.3    Neal, J.W.4    Blake, D.J.5
  • 85
    • 84870697511 scopus 로고    scopus 로고
    • Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat
    • doi: 10.3389/fneur.2012.00136
    • Friedland RP, Shah JJ, Farrer LA, Vardarajan B, Rebolledo-Mendez JD, Mok K, Hardy J (2012) Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat. Frontiers in neurology 3:136. doi: 10.3389/fneur.2012.00136
    • (2012) Frontiers in Neurology , vol.3 , pp. 136
    • Friedland, R.P.1    Shah, J.J.2    Farrer, L.A.3    Vardarajan, B.4    Rebolledo-Mendez, J.D.5    Mok, K.6    Hardy, J.7
  • 88
    • 84868596679 scopus 로고    scopus 로고
    • Suicide attempt as the presenting symptom of C9orf72 dementia
    • 10.1176/appi.ajp.2012.12060733 10.1176/appi.ajp.2012.12060733 23128926
    • Synofzik M, Biskup S, Leyhe T, Reimold M, Fallgatter AJ, Metzger F (2012) Suicide attempt as the presenting symptom of C9orf72 dementia. The American journal of psychiatry 169(11):1211-1213. doi: 10.1176/appi.ajp.2012.12060733
    • (2012) The American Journal of Psychiatry , vol.169 , Issue.11 , pp. 1211-1213
    • Synofzik, M.1    Biskup, S.2    Leyhe, T.3    Reimold, M.4    Fallgatter, A.J.5    Metzger, F.6
  • 89
    • 84890427337 scopus 로고    scopus 로고
    • Brain (18)F-FDG and (11)C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion
    • 10.1080/13554794.2012.741252
    • Martikainen MH, Gardberg M, Jansson L, Roytta M, Rinne JO, Kaasinen V (2013) Brain (18)F-FDG and (11)C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion. Neurocase. doi: 10.1080/13554794.2012.741252
    • (2013) Neurocase
    • Martikainen, M.H.1    Gardberg, M.2    Jansson, L.3    Roytta, M.4    Rinne, J.O.5    Kaasinen, V.6
  • 90
    • 84868600484 scopus 로고    scopus 로고
    • Transcranial stimulation for psychosis: The relationship between effect size and published findings
    • 10.1176/appi.ajp.2012.12060741 10.1176/appi.ajp.2012.12060741 23128925
    • Sommer IE, Aleman A, Slotema CM, Schutter DJ (2012) Transcranial stimulation for psychosis: the relationship between effect size and published findings. The American journal of psychiatry 169(11):1211. doi: 10.1176/appi.ajp.2012.12060741
    • (2012) The American Journal of Psychiatry , vol.169 , Issue.11 , pp. 1211
    • Sommer, I.E.1    Aleman, A.2    Slotema, C.M.3    Schutter, D.J.4
  • 92
    • 84874318643 scopus 로고    scopus 로고
    • C9orf72 repeat expansions are a rare genetic cause of parkinsonism
    • 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's Disease Genetics Study G 10.1093/brain/aws357
    • 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's Disease Genetics Study G (2013) C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain: a journal of neurology 136(Pt 2):385-391. doi: 10.1093/brain/aws357
    • (2013) Brain: A Journal of Neurology , vol.136 , Issue.PART 2 , pp. 385-391
  • 99
    • 84862147240 scopus 로고    scopus 로고
    • Using human pluripotent stem cells to study post-transcriptional mechanisms of neurodegenerative diseases
    • 10.1016/j.brainres.2011.12.057 1:CAS:528:DC%2BC38Xot1ynurw%3D 10.1016/j.brainres.2011.12.057 22285437
    • Patani R, Sibley CR, Chandran S, Ule J (2012) Using human pluripotent stem cells to study post-transcriptional mechanisms of neurodegenerative diseases. Brain research 1462:129-138. doi: 10.1016/j.brainres.2011.12.057
    • (2012) Brain Research , vol.1462 , pp. 129-138
    • Patani, R.1    Sibley, C.R.2    Chandran, S.3    Ule, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.