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Volumn 14, Issue SUPPL1, 2013, Pages 44-52

Genetic and epigenetic studies of amyotrophic lateral sclerosis

Author keywords

ALS; Epigenetic; Familial ALS; Genetic; Modifier genes

Indexed keywords

PROTEASOME; UNTRANSLATED RNA;

EID: 84877860468     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2013.778571     Document Type: Article
Times cited : (25)

References (68)
  • 3
    • 80755133370 scopus 로고    scopus 로고
    • Clinical genetics of amyo-trophic lateral sclerosis: What do we really know?
    • Andersen PM, Al-Chalabi A. Clinical genetics of amyo-trophic lateral sclerosis: what do we really know? Nature reviews. Neurology. 2011; 7: 603-15.
    • (2011) Nature Reviews. Neurology. , vol.7 , pp. 603-615
    • Andersen, P.M.1    Al-Chalabi, A.2
  • 5
    • 80051586618 scopus 로고    scopus 로고
    • Modelling the effects of penetrance and family size on rates of sporadic and familial disease
    • Epub 2011/08/19
    • Al-Chalabi A, Lewis CM. Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Human Heredity. 2011; 71: 281-8. Epub 2011/08/19.
    • (2011) Human Heredity. , vol.71 , pp. 281-288
    • Al-Chalabi, A.1    Lewis, C.M.2
  • 6
    • 0043048571 scopus 로고
    • Sequential tests for the detection of linkage
    • Morton NE. Sequential tests for the detection of linkage. Am J Hum Genet. 1955; 7: 277-318.
    • (1955) Am J Hum Genet. , vol.7 , pp. 277-318
    • Morton, N.E.1
  • 7
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science. 1996; 273: 1516-7.
    • (1996) Science. , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 8
    • 0016302483 scopus 로고
    • Estimation of the recombination fraction in human pedigrees: Effi cient computation of the likelihood for human linkage studies
    • Ott J. Estimation of the recombination fraction in human pedigrees: effi cient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974; 26: 588-97.
    • (1974) Am J Hum Genet. , vol.26 , pp. 588-597
    • Ott, J.1
  • 9
    • 84865172323 scopus 로고    scopus 로고
    • ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
    • Epub 2012/07/04
    • Abel O, Powell JF, Andersen PM, Al-Chalabi A. ALSoD: a user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Human Mutation. 2012. Epub 2012/07/04.
    • (2012) Human Mutation.
    • Abel, O.1    Powell, J.F.2    Andersen, P.M.3    Al-Chalabi, A.4
  • 10
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993; 362: 59-62.
    • (1993) Nature. , vol.362 , pp. 59-62
    • Rosen, D.R.1    Siddique, T.2    Patterson, D.3    Figlewicz, D.A.4    Sapp, P.5    Hentati, A.6
  • 11
  • 12
    • 41949100148 scopus 로고    scopus 로고
    • TARDBP mutations in amyo-trophic lateral sclerosis with TDP-43 neuropathology: A genetic and histopathological analysis
    • Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, et al. TARDBP mutations in amyo-trophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. The Lancet Neurology. 2008; 7: 409-16.
    • (2008) The Lancet Neurology. , vol.7 , pp. 409-416
    • Van Deerlin, V.M.1    Leverenz, J.B.2    Bekris, L.M.3    Bird, T.D.4    Yuan, W.5    Elman, L.B.6
  • 13
    • 41149180753 scopus 로고    scopus 로고
    • TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    • Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008; 319: 1668-72.
    • (2008) Science. , vol.319 , pp. 1668-1672
    • Sreedharan, J.1    Blair, I.P.2    Tripathi, V.B.3    Hu, X.4    Vance, C.5    Rogelj, B.6
  • 15
    • 61349162349 scopus 로고    scopus 로고
    • Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    • Vance C, Rogelj B, Hortobagyi T, de Vos KJ, Nishimura AL, Sreedharan J, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009; 323: 1208-11.
    • (2009) Science. , vol.323 , pp. 1208-1211
    • Vance, C.1    Rogelj, B.2    Hortobagyi, T.3    De Vos, K.J.4    Nishimura, A.L.5    Sreedharan, J.6
  • 16
    • 33645422711 scopus 로고    scopus 로고
    • ANG mutations segregate with familial and'sporadic'amyotrophic lateral sclerosis
    • Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, et al. ANG mutations segregate with familial and'sporadic'amyotrophic lateral sclerosis. Nat Genet. 2006; 38: 411-3.
    • (2006) Nat Genet. , vol.38 , pp. 411-413
    • Greenway, M.J.1    Andersen, P.M.2    Russ, C.3    Ennis, S.4    Cashman, S.5    Donaghy, C.6
  • 18
    • 80052580969 scopus 로고    scopus 로고
    • Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
    • Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature. 2011; 477: 211-5.
    • (2011) Nature. , vol.477 , pp. 211-215
    • Deng, H.X.1    Chen, W.2    Hong, S.T.3    Boycott, K.M.4    Gorrie, G.H.5    Siddique, N.6
  • 19
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011; 72: 257-68.
    • (2011) Neuron. , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3    Simon-Sanchez, J.4    Rollinson, S.5    Gibbs, J.R.6
  • 20
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011; 72: 245-56.
    • (2011) Neuron. , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1    MacKenzie, I.R.2    Boeve, B.F.3    Boxer, A.L.4    Baker, M.5    Rutherford, N.J.6
  • 21
    • 33847622526 scopus 로고    scopus 로고
    • Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: Fi rst stage analysis and public release of data
    • Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: fi rst stage analysis and public release of data. Lancet Neurology. 2007; 6: 322-8.
    • (2007) Lancet Neurology. , vol.6 , pp. 322-328
    • Schymick, J.C.1    Scholz, S.W.2    Fung, H.C.3    Britton, A.4    Arepalli, S.5    Gibbs, J.R.6
  • 25
  • 26
    • 34548646702 scopus 로고    scopus 로고
    • ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: A genome-wide association study
    • van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, et al. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurology. 2007; 6: 869-77.
    • (2007) Lancet Neurology. , vol.6 , pp. 869-877
    • Van Es, M.A.1    Van Vught, P.W.2    Blauw, H.M.3    Franke, L.4    Saris, C.G.5    Andersen, P.M.6
  • 27
    • 67049155508 scopus 로고    scopus 로고
    • Reduced expression of the kinesin-associ-ated protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
    • Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, et al. Reduced expression of the kinesin-associ-ated protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009; 106: 9004-9.
    • (2009) Proc Natl Acad Sci U S A. , vol.106 , pp. 9004-9009
    • Landers, J.E.1    Melki, J.2    Meininger, V.3    Glass, J.D.4    Van Den Berg, L.H.5    Van Es, M.A.6
  • 28
    • 70349592269 scopus 로고    scopus 로고
    • Genome-wide association study identifi es 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    • van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, et al. Genome-wide association study identifi es 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009; 41: 1083-7.
    • (2009) Nat Genet. , vol.41 , pp. 1083-1087
    • Van Es, M.A.1    Veldink, J.H.2    Saris, C.G.3    Blauw, H.M.4    Van Vught, P.W.5    Birve, A.6
  • 29
    • 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, Weale ME, Smith B, Vance C, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurology. 2010; 9: 986-94.
    • (2010) Lancet Neurology. , vol.9 , pp. 986-994
    • Shatunov, A.1    Mok, K.2    Newhouse, S.3    Weale, M.E.4    Smith, B.5    Vance, C.6
  • 31
    • 84859015231 scopus 로고    scopus 로고
    • A high-density genome-wide association screen of sporadic ALS in US veterans
    • Kwee LC, Liu Y, Haynes C, Gibson JR, Stone A, Schichman SA, et al. A high-density genome-wide association screen of sporadic ALS in US veterans. PloS One. 2012; 7: 32768.
    • (2012) PloS One. , vol.7 , pp. 32768
    • Kwee, L.C.1    Liu, Y.2    Haynes, C.3    Gibson, J.R.4    Stone, A.5    Schichman, S.A.6
  • 34
    • 77949529252 scopus 로고    scopus 로고
    • The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: Genome-wide association study and comparison with published loci
    • Wain LV, Pedroso I, Landers JE, Breen G, Shaw CE, Leigh PN, et al. The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci. PloS One. 2009; 4: 8175.
    • (2009) PloS One. , vol.4 , pp. 8175
    • Wain, L.V.1    Pedroso, I.2    Landers, J.E.3    Breen, G.4    Shaw, C.E.5    Leigh, P.N.6
  • 38
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
    • Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurology. 2012; 11: 323-30.
    • (2012) Lancet Neurology. , vol.11 , pp. 323-330
    • Majounie, E.1    Renton, A.E.2    Mok, K.3    Dopper, E.G.4    Waite, A.5    Rollinson, S.6
  • 39
    • 77956155218 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    • Elden AC, Kim H-J, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature. 2010; 466: 1069-75.
    • (2010) Nature. , vol.466 , pp. 1069-1075
    • Elden, A.C.1    Kim, H.-J.2    Hart, M.P.3    Chen-Plotkin, A.S.4    Johnson, B.S.5    Fang, X.6
  • 40
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996; 14: 269-76.
    • (1996) Nat Genet. , vol.14 , pp. 269-276
    • Pulst, S.M.1    Nechiporuk, A.2    Nechiporuk, T.3    Gispert, S.4    Chen, X.N.5    Lopes-Cendes, I.6
  • 41
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996; 14: 285-91.
    • (1996) Nat Genet. , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3    Devys, D.4    Trottier, Y.5    Garnier, J.M.6
  • 42
    • 8244220324 scopus 로고    scopus 로고
    • Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
    • Cancel G, Durr A, Didierjean O, Imbert G, Burk K, Lezin A, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet. 1997; 6: 709-15.
    • (1997) Hum Mol Genet. , vol.6 , pp. 709-715
    • Cancel, G.1    Durr, A.2    Didierjean, O.3    Imbert, G.4    Burk, K.5    Lezin, A.6
  • 44
    • 77955445286 scopus 로고    scopus 로고
    • Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population based cohort of ALS patients
    • Traynor BJ, Nalls M, Lai SL, Gibbs RJ, Schymick JC, Arepalli S, et al. Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population based cohort of ALS patients. Proc Natl Acad Sci U S A. 2010; 107: 12335-8.
    • (2010) Proc Natl Acad Sci U S A. , vol.107 , pp. 12335-12338
    • Traynor, B.J.1    Nalls, M.2    Lai, S.L.3    Gibbs, R.J.4    Schymick, J.C.5    Arepalli, S.6
  • 45
    • 85027948689 scopus 로고    scopus 로고
    • Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis
    • Orsetti V, Pegoraro E, Cima V, d'Ascenzo C, Palmieri A, Querin G, et al. Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis. Neurodegenerative Diseases. 2011; 8: 491-5.
    • (2011) Neurodegenerative Diseases. , vol.8 , pp. 491-495
    • Orsetti, V.1    Pegoraro, E.2    Cima, V.3    D'Ascenzo, C.4    Palmieri, A.5    Querin, G.6
  • 48
    • 0041903805 scopus 로고    scopus 로고
    • VEGF is a modifi er of amyotrophic lateral sclerosis in mice and humans and protects motor neurons against ischemic death
    • Lambrechts D, Storkebaum E, Morimoto M, del-Favero J, Desmet F, Marklund SL, et al. VEGF is a modifi er of amyotrophic lateral sclerosis in mice and humans and protects motor neurons against ischemic death. Nat Genet. 2003; 34: 383-94.
    • (2003) Nat Genet. , vol.34 , pp. 383-394
    • Lambrechts, D.1    Storkebaum, E.2    Morimoto, M.3    Del-Favero, J.4    Desmet, F.5    Marklund, S.L.6
  • 49
    • 77955396350 scopus 로고    scopus 로고
    • SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: Genotype-phenotype correlations
    • Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. Journal of Medical Genetics. 2010; 47: 554-60.
    • (2010) Journal of Medical Genetics. , vol.47 , pp. 554-560
    • Millecamps, S.1    Salachas, F.2    Cazeneuve, C.3    Gordon, P.4    Bricka, B.5    Camuzat, A.6
  • 50
    • 68249141410 scopus 로고    scopus 로고
    • A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS
    • Wills AM, Cronin S, Slowik A, Kasperaviciute D, van Es MA, Morahan JM, et al. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology. 2009; 73: 16-24.
    • (2009) Neurology. , vol.73 , pp. 16-24
    • Wills, A.M.1    Cronin, S.2    Slowik, A.3    Kasperaviciute, D.4    Van Es, M.A.5    Morahan, J.M.6
  • 52
    • 73949149584 scopus 로고    scopus 로고
    • RNA processing defects associated with diseases of the motor neuron
    • Kolb SJ, Sutton S, Schoenberg DR. RNA processing defects associated with diseases of the motor neuron. Muscle Nerve. 2010; 41: 5-17.
    • (2010) Muscle Nerve. , vol.41 , pp. 5-17
    • Kolb, S.J.1    Sutton, S.2    Schoenberg, D.R.3
  • 53
    • 71049166754 scopus 로고    scopus 로고
    • The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)
    • Strong MJ. The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS). J Neurol Sci. 2010; 288: 1-12.
    • (2010) J Neurol Sci. , vol.288 , pp. 1-12
    • Strong, M.J.1
  • 55
    • 57049151436 scopus 로고    scopus 로고
    • Epigenetic principles and mechanisms underlying nervous system functions in health and disease
    • Mehler MF. Epigenetic principles and mechanisms underlying nervous system functions in health and disease. Progress in Neurobiology. 2008; 86: 305-41.
    • (2008) Progress in Neurobiology. , vol.86 , pp. 305-341
    • Mehler, M.F.1
  • 56
    • 46649093597 scopus 로고    scopus 로고
    • Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription
    • Wang X, Arai S, Song X, Reichart D, Du K, Pascual G, et al. Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription. Nature. 2008; 454: 126-30.
    • (2008) Nature. , vol.454 , pp. 126-130
    • Wang, X.1    Arai, S.2    Song, X.3    Reichart, D.4    Du, K.5    Pascual, G.6
  • 57
    • 77952581350 scopus 로고    scopus 로고
    • Long non-coding RNAs in nervous system function and disease
    • Qureshi IA, Mattick JS, Mehler MF. Long non-coding RNAs in nervous system function and disease. Brain Research. 2010; 1338: 20-35.
    • (2010) Brain Research. , vol.1338 , pp. 20-35
    • Qureshi, I.A.1    Mattick, J.S.2    Mehler, M.F.3
  • 58
    • 84864126183 scopus 로고    scopus 로고
    • Emerging roles of non-coding RNAs in brain evolution, development, plasticity and disease
    • Qureshi IA, Mehler MF. Emerging roles of non-coding RNAs in brain evolution, development, plasticity and disease. Nat Rev Neurosci. 2012; 13: 528-41.
    • (2012) Nat Rev Neurosci. , vol.13 , pp. 528-541
    • Qureshi, I.A.1    Mehler, M.F.2
  • 59
    • 72149131804 scopus 로고    scopus 로고
    • MicroRNA-206 delays ALS progression and promotes regeneration of neuromuscular synapses in mice
    • Williams AH, Valdez G, Moresi V, Qi X, McAnally J, Elliott JL, et al. MicroRNA-206 delays ALS progression and promotes regeneration of neuromuscular synapses in mice. Science. 2009; 326: 1549-54.
    • (2009) Science. , vol.326 , pp. 1549-1554
    • Williams, A.H.1    Valdez, G.2    Moresi, V.3    Qi, X.4    McAnally, J.5    Elliott, J.L.6
  • 61
    • 84860843024 scopus 로고    scopus 로고
    • Epigenetics DNA methylation in the core ataxin-2 gene promoter: Novel physiological and pathological implications
    • Laffi ta-Mesa JM, Bauer PO, Kouri V, Pena Serrano L, Roskams J, Almaguer Gotay D, et al. Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications. Hum Genet. 2012; 131: 625-38.
    • (2012) Hum Genet. , vol.131 , pp. 625-638
    • Laffi Ta-Mesa, J.M.1    Bauer, P.O.2    Kouri, V.3    Pena Serrano, L.4    Roskams, J.5    Almaguer Gotay, D.6
  • 62
    • 84155171976 scopus 로고    scopus 로고
    • Understanding the role of TDP-43 and FUS/TLS in ALS and beyond
    • Da Cruz S, Cleveland DW. Understanding the role of TDP-43 and FUS/TLS in ALS and beyond. Current Opinion in Neurobiology. 2011; 21: 904-19.
    • (2011) Current Opinion in Neurobiology. , vol.21 , pp. 904-919
    • Da Cruz, S.1    Cleveland, D.W.2
  • 64
    • 15044346521 scopus 로고    scopus 로고
    • Defi cient RNA editing of GluR2 and neuronal death in amyotropic lateral sclerosis
    • Kwak S, Kawahara Y. Defi cient RNA editing of GluR2 and neuronal death in amyotropic lateral sclerosis. J Mol Med. 2005; 83: 110-20.
    • (2005) J Mol Med. , vol.83 , pp. 110-120
    • Kwak, S.1    Kawahara, Y.2
  • 65
    • 0032752054 scopus 로고    scopus 로고
    • Reduction of GluR2 RNA editing, a molecular change that increases calcium infl ux through AMPA receptors, selective in the spinal ventral gray of patients with amyo-trophic lateral sclerosis
    • Takuma H, Kwak S, Yoshizawa T, Kanazawa I. Reduction of GluR2 RNA editing, a molecular change that increases calcium infl ux through AMPA receptors, selective in the spinal ventral gray of patients with amyo-trophic lateral sclerosis. Annals of Neurology. 1999; 46: 806-15.
    • (1999) Annals of Neurology. , vol.46 , pp. 806-815
    • Takuma, H.1    Kwak, S.2    Yoshizawa, T.3    Kanazawa, I.4
  • 67
    • 77953870821 scopus 로고    scopus 로고
    • TDP-43 pathology in sporadic ALS occurs in motor neurons lacking the RNA editing enzyme ADAR2
    • Aizawa H, Sawada J, Hideyama T, Yamashita T, Katayama T, Hasebe N, et al. TDP-43 pathology in sporadic ALS occurs in motor neurons lacking the RNA editing enzyme ADAR2. Acta Neuropathol. 2010; 120: 75-84.
    • (2010) Acta Neuropathol. , vol.120 , pp. 75-84
    • Aizawa, H.1    Sawada, J.2    Hideyama, T.3    Yamashita, T.4    Katayama, T.5    Hasebe, N.6
  • 68
    • 57349192059 scopus 로고    scopus 로고
    • Newly identifi ed ADAR-mediated A-to-I editing positions as a tool for ALS research
    • Kwak S, Nishimoto Y, Yamashita T. Newly identifi ed ADAR-mediated A-to-I editing positions as a tool for ALS research. RNA Biol. 2008; 5: 193-7.
    • (2008) RNA Biol. , vol.5 , pp. 193-197
    • Kwak, S.1    Nishimoto, Y.2    Yamashita, T.3


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