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Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids.
Kraya T, Quandt D, Pfirrmann T, Kindermann A, Lampe L, Schroeter ML, Kohlhase J, Stoevesandt D, Hoffmann K, Villavicencio-Lorini P. Kraya T, et al. Mol Genet Genomic Med. 2019 Apr;7(4):e00595. doi: 10.1002/mgg3.595. Epub 2019 Feb 6. Mol Genet Genomic Med. 2019. PMID: 30729751 Free PMC article.
BACKGROUND: Colony-stimulating factor 1 receptor is a tyrosine kinase transmembrane protein that mediates proliferation, differentiation, and survival of monocytes/macrophages and microglia. CSF1R gene mutations cause hereditary diffuse leuko
BACKGROUND: Colony-stimulating factor 1 receptor is a tyrosine kinase transmembrane protein that mediates proliferation, differentiation, an …
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. Miura T, et al. J Neurol. 2018 Oct;265(10):2415-2424. doi: 10.1007/s00415-018-9017-2. Epub 2018 Aug 22. J Neurol. 2018. PMID: 30136118 Free PMC article.
OBJECTIVE: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is caused by mutations in CSF1R. ...Functional assay revealed that none of the mutations within TKD showed autophosphorylation of CSF1R
OBJECTIVE: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is caused by mutations
Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
Hoffmann S, Murrell J, Harms L, Miller K, Meisel A, Brosch T, Scheel M, Ghetti B, Goebel HH, Stenzel W. Hoffmann S, et al. Brain Pathol. 2014 Sep;24(5):452-8. doi: 10.1111/bpa.12120. Epub 2014 Mar 16. Brain Pathol. 2014. PMID: 24428556
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is an autosomal dominant disease clinically characterized by cognitive decline, personality changes, motor impairment, parkinsonism and seizures. Recently, mutations in t
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is an autosomal dominant disease clinically
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H. Lynch DS, et al. JAMA Neurol. 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229. JAMA Neurol. 2016. PMID: 27749956
IMPORTANCE: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor 1) ge …
IMPORTANCE: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adul …
Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids.
Riku Y, Ando T, Goto Y, Mano K, Iwasaki Y, Sobue G, Yoshida M. Riku Y, et al. J Neuropathol Exp Neurol. 2014 Dec;73(12):1183-90. doi: 10.1097/NEN.0000000000000139. J Neuropathol Exp Neurol. 2014. PMID: 25383640
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a familial neurodegenerative disease clinically characterized by progressive cognitive and motor dysfunction. ...We report a Japanese family with HDLS. A novel heterozygous c
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a familial neurodegenerative disease clinically
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.
Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa M, Isami A, Okazaki K, Yokoo H, Itoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A, Ikeuchi T. Konno T, et al. Neurology. 2014 Jan 14;82(2):139-48. doi: 10.1212/WNL.0000000000000046. Epub 2013 Dec 13. Neurology. 2014. PMID: 24336230 Free PMC article.
OBJECTIVE: To clarify the genetic, clinicopathologic, and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony stimulating factor 1 receptor (CSF-1R) mutation. ...Five patient …
OBJECTIVE: To clarify the genetic, clinicopathologic, and neuroimaging characteristics of patients with hereditary diffuse
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
Kındış E, Simsek-Kiper PÖ, Koşukcu C, Taşkıran EZ, Göçmen R, Utine E, Haliloğlu G, Boduroğlu K, Alikaşifoğlu M. Kındış E, et al. Am J Med Genet A. 2021 Mar 22. doi: 10.1002/ajmg.a.62179. Online ahead of print. Am J Med Genet A. 2021. PMID: 33749994
Heterozygous CSF1R variants have been known to cause hereditary diffuse leukoencephalopathy with spheroids (HDLS, MIM# 221820), an adult-onset leukoencephalopathy characterized by loss of motor functions and cognitive …
Heterozygous CSF1R variants have been known to cause hereditary diffuse leukoencephalopathy with spher