메뉴 건너뛰기




Volumn 81, Issue 23, 2013, Pages 2039-2044

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)

Author keywords

[No Author keywords available]

Indexed keywords

COLONY STIMULATING FACTOR 1 RECEPTOR; COLONY STIMULATING FACTOR RECEPTOR; UNCLASSIFIED DRUG;

EID: 84892428109     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000436945.01023.ac     Document Type: Article
Times cited : (65)

References (19)
  • 2
    • 84856273853 scopus 로고    scopus 로고
    • Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
    • Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011;44:200-205
    • (2011) Nat Genet , vol.44 , pp. 200-205
    • Rademakers, R.1    Baker, M.2    Nicholson, A.M.3
  • 3
    • 84857038050 scopus 로고    scopus 로고
    • Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity
    • Sundal C, Lash J, Aasly J, et al. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci 2012;314:130-137
    • (2012) J Neurol Sci , vol.314 , pp. 130-137
    • Sundal, C.1    Lash, J.2    Aasly, J.3
  • 4
    • 84876233940 scopus 로고    scopus 로고
    • CSF1R mutations link POLD and HDLS as a single disease entity
    • Nicholson AM, Baker MC, Finch NA, et al. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology 2013;80:1033-1040
    • (2013) Neurology , vol.80 , pp. 1033-1040
    • Nicholson, A.M.1    Baker, M.C.2    Finch, N.A.3
  • 5
    • 84880557426 scopus 로고    scopus 로고
    • Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): Its clinical concept and the review of the previously reported cases [in Japanese]
    • Ikeda S. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): its clinical concept and the review of the previously reported cases [in Japanese]. Rinsho Shinkeigaku 2012;52:1383-1385
    • (2012) Rinsho Shinkeigaku , vol.52 , pp. 1383-1385
    • Ikeda, S.1
  • 6
    • 84866127047 scopus 로고    scopus 로고
    • MRI characteristics and scoring in HDLS due to CSF1R gene mutations
    • Sundal C, Van Gerpen JA, Nicholson AM, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 2012;79:566-574
    • (2012) Neurology , vol.79 , pp. 566-574
    • Sundal, C.1    Van Gerpen, J.A.2    Nicholson, A.M.3
  • 7
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7:575-576
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 8
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous snps: Server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30:3894-3900
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 9
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-1081
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 10
    • 84871578629 scopus 로고    scopus 로고
    • Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
    • Shihab HA, Gough J, Cooper DN, et al. Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat 2013;34:57-65
    • (2013) Hum Mutat , vol.34 , pp. 57-65
    • Shihab, H.A.1    Gough, J.2    Cooper, D.N.3
  • 11
    • 84867313168 scopus 로고    scopus 로고
    • Imaging findings in autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-CADASIL-The most frequent familial stroke syndrome [in German]
    • Bender B, Bornemann A, Reimold M, Ernemann U, Horger M. Imaging findings in autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-CADASIL-the most frequent familial stroke syndrome [in German]. Rofo 2012;184:679-683
    • (2012) Rofo , vol.184 , pp. 679-683
    • Bender, B.1    Bornemann, A.2    Reimold, M.3    Ernemann, U.4    Horger, M.5
  • 12
    • 84880281745 scopus 로고    scopus 로고
    • Genetic analysis of inherited leukodystrophies: Genotype-phenotype correlations in the CSF1R gene
    • Guerreiro R, Kara E, Le Ber I, et al. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol 2013;70:875-882
    • (2013) JAMA Neurol , vol.70 , pp. 875-882
    • Guerreiro, R.1    Kara, E.2    Le Ber, I.3
  • 13
    • 84873947606 scopus 로고    scopus 로고
    • Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R
    • Kondo Y, Kinoshita M, Fukushima K, Yoshida K, Ikeda S. Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. Intern Med 2013;52:503-506
    • (2013) Intern Med , vol.52 , pp. 503-506
    • Kondo, Y.1    Kinoshita, M.2    Fukushima, K.3    Yoshida, K.4    Ikeda, S.5
  • 15
    • 0141962674 scopus 로고    scopus 로고
    • Alexander's disease: Clinical, pathologic, and genetic features
    • Johnson AB, Brenner M. Alexander's disease: clinical, pathologic, and genetic features. J Child Neurol 2003;18:625-632
    • (2003) J Child Neurol , vol.18 , pp. 625-632
    • Johnson, A.B.1    Brenner, M.2
  • 16
    • 59649129606 scopus 로고    scopus 로고
    • Autosomal dominant subcortical gliosis presenting as frontotemporal dementia
    • Swerdlow RH, Miller BB, Lopes MB, et al. Autosomal dominant subcortical gliosis presenting as frontotemporal dementia. Neurology 2009;72:260-267
    • (2009) Neurology , vol.72 , pp. 260-267
    • Swerdlow, R.H.1    Miller, B.B.2    Lopes, M.B.3
  • 18
    • 78149360132 scopus 로고    scopus 로고
    • Fate mapping analysis reveals that adult microglia derive from primitive macrophages
    • Ginhoux F, Greter M, Leboeuf M, et al. Fate mapping analysis reveals that adult microglia derive from primitive macrophages. Science 2010;330:841-845
    • (2010) Science , vol.330 , pp. 841-845
    • Ginhoux, F.1    Greter, M.2    Leboeuf, M.3
  • 19
    • 84856955371 scopus 로고    scopus 로고
    • Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy
    • Schluter A, Espinosa L, Fourcade S, et al. Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy. Hum Mol Genet 2012;21:1062-1077
    • (2012) Hum Mol Genet , vol.21 , pp. 1062-1077
    • Schluter, A.1    Espinosa, L.2    Fourcade, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.