메뉴 건너뛰기




Volumn 43, Issue 5, 2014, Pages 555-562

Genetics of amyotrophic lateral sclerosis;Génétique de la sclérose latérale amyotrophique

Author keywords

[No Author keywords available]

Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; APOE GENE; ASYMPTOMATIC DISEASE; ATXN2 GENE; C9ORF72 GENE; FAMILIAL DISEASE; FUS GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GEOGRAPHIC ORIGIN; HAPLOTYPE; HEREDITY; HUMAN; PATHOGENESIS; POPULATION RESEARCH; SHORT SURVEY; SMN1 GENE; SOD1 GENE; TARDBP GENE; VEGF GENE;

EID: 84900481383     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lpm.2014.01.012     Document Type: Short Survey
Times cited : (2)

References (34)
  • 1
    • 0027401203 scopus 로고
    • Mutation in Cu/Zn superoxyde dismuatse gene are associated with familial amyotrophic lateral sclerosis
    • Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hentati A., et al. Mutation in Cu/Zn superoxyde dismuatse 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
  • 2
    • 0001061176 scopus 로고
    • Epidemiologic investigations of amyotrophic lateral sclerosis 2. Familial aggregations indicative of dominant inheritance. II
    • Kurland L.T., Mulder D.W. Epidemiologic investigations of amyotrophic lateral sclerosis 2. Familial aggregations indicative of dominant inheritance. II. Neurology 1955, 5:249-268.
    • (1955) Neurology , vol.5 , pp. 249-268
    • Kurland, L.T.1    Mulder, D.W.2
  • 4
    • 80755133370 scopus 로고    scopus 로고
    • Clincial genetics of amyotrophic lateral sclerosis: what do we really know?
    • Andersen P.M., Al-Chalabi A. Clincial genetics of amyotrophic lateral sclerosis: what do we really know?. Nat Rev Neurol 2011, 7:603-615.
    • (2011) Nat Rev Neurol , vol.7 , pp. 603-615
    • Andersen, P.M.1    Al-Chalabi, A.2
  • 5
    • 0035136084 scopus 로고    scopus 로고
    • Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family
    • Hand C.K., Mayeux-Portas V., Khoris J., Briolloti V., Clavelou P., Camu W., et al. Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol 2001, 49:267-271.
    • (2001) Ann Neurol , vol.49 , pp. 267-271
    • Hand, C.K.1    Mayeux-Portas, V.2    Khoris, J.3    Briolloti, V.4    Clavelou, P.5    Camu, W.6
  • 6
    • 31544466502 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
    • Andersen P.M. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr Neurol Neurosci Rep 2006, 6:37-46.
    • (2006) Curr Neurol Neurosci Rep , vol.6 , pp. 37-46
    • Andersen, P.M.1
  • 7
    • 41149180753 scopus 로고    scopus 로고
    • TDP-43 mutations in familial ADN sporadic amyotrophic lateral sclerosis
    • Sreedharan J., Blair I.P., Tripathi V.B., Hu X., Vance C., Rogelj B., et al. TDP-43 mutations in familial ADN sporadic amyotrophic lateral sclerosis. Science 2009, 319:1668-1672.
    • (2009) 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
  • 9
    • 84863609164 scopus 로고    scopus 로고
    • Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations
    • Corcia P., Valdmanis P., Millecamps S., Lionnet C., Blasco H., Mouzat K., et al. Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. Neurology 2012, 78:1519-1526.
    • (2012) Neurology , vol.78 , pp. 1519-1526
    • Corcia, P.1    Valdmanis, P.2    Millecamps, S.3    Lionnet, C.4    Blasco, H.5    Mouzat, K.6
  • 11
    • 61349162349 scopus 로고    scopus 로고
    • Mutations in FUS, and RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    • Vance C., Rogelj B., Hortobagy T., De Vos K.J., Nishimura A.L., Sreedharan J., et al. Mutations in FUS, and RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009, 323:1208-1211.
    • (2009) Science , vol.323 , pp. 1208-1211
    • Vance, C.1    Rogelj, B.2    Hortobagy, T.3    De Vos, K.J.4    Nishimura, A.L.5    Sreedharan, J.6
  • 12
    • 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, Bricka B., Camuzat A., et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet 2010, 48:554-560.
    • (2010) J Med Genet , vol.48 , pp. 554-560
    • Millecamps, S.1    Salachas, F.2    Cazeneuve, C.3    Gordon4    Bricka, B.5    Camuzat, A.6
  • 13
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the C9ORF72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemproal dementia: a cross-sectional study
    • Majounie E., Renton A.E., Mok K., Dopper E.G., Waite A., Rollinson S., et al. Frequency of the C9ORF72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemproal dementia: a cross-sectional study. Lancet Neurol 2012, 11:323-330.
    • (2012) Lancet Neurol , 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
  • 14
    • 84864083825 scopus 로고    scopus 로고
    • Phenotype difference between ALS patients with expanded repeats in C9orf72 and patients with mutations in other ALS-related genes
    • Millecamps S., Boillée S., Le Ber I., Seilhean D., Teyssou E., Giraudeau M., et al. Phenotype difference between ALS patients with expanded repeats in C9orf72 and patients with mutations in other ALS-related genes. J Med Genet 2012, 49:258-263.
    • (2012) J Med Genet , vol.49 , pp. 258-263
    • Millecamps, S.1    Boillée, S.2    Le Ber, I.3    Seilhean, D.4    Teyssou, E.5    Giraudeau, M.6
  • 15
    • 84857522741 scopus 로고    scopus 로고
    • Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
    • Chio A., Borghero G., Restagno G., Mora G., Drepper C., Traynor B.J., et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012, 135:784-793.
    • (2012) Brain , vol.135 , pp. 784-793
    • Chio, A.1    Borghero, G.2    Restagno, G.3    Mora, G.4    Drepper, C.5    Traynor, B.J.6
  • 16
    • 84857050135 scopus 로고    scopus 로고
    • Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
    • Byrne S., Elamin M., Bede P., Shatunov A., Walsh C., Corr B., et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol 2012, 11:232-240.
    • (2012) Lancet Neurol , vol.11 , pp. 232-240
    • Byrne, S.1    Elamin, M.2    Bede, P.3    Shatunov, A.4    Walsh, C.5    Corr, B.6
  • 17
    • 84900495089 scopus 로고    scopus 로고
    • Familial fronto-temporal dementia and amyotrophic lateral sclerosis with the C9ORF72 hexanucleotide repeat
    • Hodges J. Familial fronto-temporal dementia and amyotrophic lateral sclerosis with the C9ORF72 hexanucleotide repeat. Brain 2012, 135:632-635.
    • (2012) Brain , vol.135 , pp. 632-635
    • Hodges, J.1
  • 20
    • 67349090057 scopus 로고    scopus 로고
    • Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia
    • Weihl C.C., Pestronk A., Kimonis V.E. Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Neuromuscular Disord 2009, 19:308-315.
    • (2009) Neuromuscular Disord , vol.19 , pp. 308-315
    • Weihl, C.C.1    Pestronk, A.2    Kimonis, V.E.3
  • 24
    • 33845348169 scopus 로고    scopus 로고
    • Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia
    • Marques V., Barreira A., Davis M., Abou-Sleiman P., Silva W., Zago M., et al. Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia. Muscle Nerve 2006, 34:731-739.
    • (2006) Muscle Nerve , vol.34 , pp. 731-739
    • Marques, V.1    Barreira, A.2    Davis, M.3    Abou-Sleiman, P.4    Silva, W.5    Zago, M.6
  • 25
    • 0032008650 scopus 로고    scopus 로고
    • Lack of association between apolipoprotein E (ApoE) genotype and sporadic amyotrophic lateral sclerosis (ALS)
    • Siddique T., Pericak-Vance M.A., Caliendo J., Hong S.T., Hung W.Y., Kaplan J., et al. Lack of association between apolipoprotein E (ApoE) genotype and sporadic amyotrophic lateral sclerosis (ALS). Neurogenetics 1998, 1:213-216.
    • (1998) Neurogenetics , vol.1 , pp. 213-216
    • Siddique, T.1    Pericak-Vance, M.A.2    Caliendo, J.3    Hong, S.T.4    Hung, W.Y.5    Kaplan, J.6
  • 26
    • 0036156999 scopus 로고    scopus 로고
    • Abnormal SMN1 copy number is a susceptibility factor in amyotrophic lateral sclerosis
    • Corcia P., Mayeux-Portas V., Khoris J., de Toffol B., Autret A., Müh J.P., et al. Abnormal SMN1 copy number is a susceptibility factor in amyotrophic lateral sclerosis. Ann Neurol 2002, 51:243-246.
    • (2002) Ann Neurol , vol.51 , pp. 243-246
    • Corcia, P.1    Mayeux-Portas, V.2    Khoris, J.3    de Toffol, B.4    Autret, A.5    Müh, J.P.6
  • 27
    • 84859911665 scopus 로고    scopus 로고
    • Homozygous SMN2 deletion is a protective factor in the Swedish ALS population
    • Corcia P., Ingre C., Blasco H., Press R., Praline J., Antar C., et al. Homozygous SMN2 deletion is a protective factor in the Swedish ALS population. Eur J Hum Genet 2012, 20:588-591.
    • (2012) Eur J Hum Genet , vol.20 , pp. 588-591
    • Corcia, P.1    Ingre, C.2    Blasco, H.3    Press, R.4    Praline, J.5    Antar, C.6
  • 28
    • 77954038587 scopus 로고    scopus 로고
    • Paraoxonase gene mutations in amyotrophic lateral sclerosis
    • Ticozzi N., Leclerc A., Keagle P., Glass J., Wills A.M. Paraoxonase gene mutations in amyotrophic lateral sclerosis. Ann Neurol 2010, 68:102-107.
    • (2010) Ann Neurol , vol.68 , pp. 102-107
    • Ticozzi, N.1    Leclerc, A.2    Keagle, P.3    Glass, J.4    Wills, A.M.5
  • 29
    • 0041903805 scopus 로고    scopus 로고
    • VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death
    • Lambrechts D., Storkebaum E., Morimoto M., Del-Favero J., Desmet F., Marklund S.L., et al. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 2003, 34:383-394.
    • (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
  • 31
    • 84867543551 scopus 로고    scopus 로고
    • SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Rubino E., Raneiro I., Chio A., Rogaeva E., Galimberti D., Fenoglio P., et al. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 2012, 79:1556-1562.
    • (2012) Neurology , vol.79 , pp. 1556-1562
    • Rubino, E.1    Raneiro, I.2    Chio, A.3    Rogaeva, E.4    Galimberti, D.5    Fenoglio, P.6
  • 32
    • 77956155218 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    • Elden A.C., Kim H.J., Hart M.P., Chen-Plotkin A.S., Johnson B.S., et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010, 466:1069-1075.
    • (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
  • 34
    • 84868656581 scopus 로고    scopus 로고
    • EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
    • Van Hoecke A., Schoonaert L., Lemmens R., Timmers M., Staats K., Laird A., et al. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med 2012, 18:1418-1424.
    • (2012) Nat Med , vol.18 , pp. 1418-1424
    • Van Hoecke, A.1    Schoonaert, L.2    Lemmens, R.3    Timmers, M.4    Staats, K.5    Laird, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.