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Journal Abstract Search

189 related items for PubMed ID: 39031193

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  • 6. Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
    Miura T, Mezaki N, Konno T, Iwasaki A, Hara N, Miura M, Funayama M, Unai Y, Tashiro Y, Okita K, Kihara T, Ito N, Kanatsuka Y, Jones DT, Hara N, Ishiguro T, Tokutake T, Kasuga K, Nozaki H, Dickson DW, Onodera O, Wszolek ZK, Ikeuchi T.
    J Neurol; 2018 Oct; 265(10):2415-2424. PubMed ID: 30136118
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  • 7. Phenotypic characterization of a Csf1r haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP).
    Chitu V, Gokhan S, Gulinello M, Branch CA, Patil M, Basu R, Stoddart C, Mehler MF, Stanley ER.
    Neurobiol Dis; 2015 Feb; 74():219-28. PubMed ID: 25497733
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  • 11. Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities.
    Konno T, Miura T, Harriott AM, Mezaki N, Edwards ES, Rademakers R, Ross OA, Meschia JF, Ikeuchi T, Wszolek ZK.
    Eur J Neurol; 2018 Jun; 25(6):875-881. PubMed ID: 29509319
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  • 12. Cognitive dysfunction and symptoms of movement disorders in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
    Ikeuchi T, Mezaki N, Miura T.
    Parkinsonism Relat Disord; 2018 Jan; 46 Suppl 1():S39-S41. PubMed ID: 28827005
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  • 13. Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.
    Foulds N, Pengelly RJ, Hammans SR, Nicoll JA, Ellison DW, Ditchfield A, Beck S, Ennis S.
    Sci Rep; 2015 May 15; 5():10042. PubMed ID: 25975230
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  • 14. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene.
    Ding C, Zhao L, Zhan Y, Li J, Zhong R, Song Q, Dong C.
    Neurol Sci; 2022 Nov 15; 43(11):6433-6440. PubMed ID: 35971044
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  • 16. Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.
    Beerepoot S, Verbeke JIML, Plantinga M, Nierkens S, Pouwels PJW, Wolf NI, Simons C, van der Knaap MS.
    Am J Med Genet A; 2024 Nov 15; 194(11):e63800. PubMed ID: 38934054
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  • 18. A novel dominant-negative mutation of the CSF1R gene causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
    Leng C, Lu L, Wang G, Zhang Y, Xu Y, Lin X, Shen N, Xu X, Qun S, Sun M, Ge W.
    Am J Transl Res; 2019 Nov 15; 11(9):6093-6101. PubMed ID: 31632577
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  • 19. Microglial reduction of colony stimulating factor-1 receptor expression is sufficient to confer adult onset leukodystrophy.
    Biundo F, Chitu V, Shlager GGL, Park ES, Gulinello ME, Saha K, Ketchum HC, Fernandes C, Gökhan Ş, Mehler MF, Stanley ER.
    Glia; 2021 Mar 15; 69(3):779-791. PubMed ID: 33079443
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  • 20. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.
    Kleinfeld K, Mobley B, Hedera P, Wegner A, Sriram S, Pawate S.
    J Neurol; 2013 Feb 15; 260(2):558-71. PubMed ID: 23052599
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