Similar articles for PMID: 30136118

Year	Number of Results
1993	1
1997	1
2001	2
2002	1
2003	1
2004	1
2005	1
2006	3
2008	2
2009	3
2011	3
2012	11
2013	21
2014	15
2015	13
2016	14
2017	20
2018	24
2019	30
2020	25
2021	45
2022	45
2023	17
2024	1

1

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.

2

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.

Konno T, Yoshida K, Mizuta I, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Onodera O, Wszolek ZK, Ikeuchi T. Konno T, et al. Eur J Neurol. 2018 Jan;25(1):142-147. doi: 10.1111/ene.13464. Epub 2017 Oct 19. Eur J Neurol. 2018. PMID: 28921817 Free PMC article.

3

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Konno T, Yoshida K, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T. Konno T, et al. Eur J Neurol. 2017 Jan;24(1):37-45. doi: 10.1111/ene.13125. Epub 2016 Sep 29. Eur J Neurol. 2017. PMID: 27680516 Free PMC article.

4

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. Konno T, et al. Eur J Neurol. 2018 Jun;25(6):875-881. doi: 10.1111/ene.13611. Epub 2018 Apr 3. Eur J Neurol. 2018. PMID: 29509319 Free PMC article.

5

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

6

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases.

Kim EJ, Shin JH, Lee JH, Kim JH, Na DL, Suh YL, Hwang SJ, Lee JH, Lee YM, Shin MJ, Lee MJ, Kim SJ, Yoon U, Park DY, Jung DS, Ahn JW, Sung S, Huh GY. Kim EJ, et al. J Neurol Sci. 2015 Feb 15;349(1-2):232-8. doi: 10.1016/j.jns.2014.12.021. Epub 2014 Dec 20. J Neurol Sci. 2015. PMID: 25563800

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. Chitu V, et al. Neurobiol Dis. 2015 Feb;74:219-28. doi: 10.1016/j.nbd.2014.12.001. Epub 2014 Dec 9. Neurobiol Dis. 2015. PMID: 25497733 Free PMC article.

8

Colony-Stimulating Factor 1 Receptor (CSF1R) Regulates Microglia Density and Distribution, but Not Microglia Differentiation In Vivo.

Oosterhof N, Kuil LE, van der Linde HC, Burm SM, Berdowski W, van Ijcken WFJ, van Swieten JC, Hol EM, Verheijen MHG, van Ham TJ. Oosterhof N, et al. Cell Rep. 2018 Jul 31;24(5):1203-1217.e6. doi: 10.1016/j.celrep.2018.06.113. Cell Rep. 2018. PMID: 30067976 Free article.

9

Proteolytic Shedding of Human Colony-Stimulating Factor 1 Receptor and its implication.

Wei Y, Ma M, Lin S, Li X, Shu Y, Wang Z, Zhou Y, Hu B, Cheng B, Duan S, Huang X, Xu H, Zhang YW, Zheng H. Wei Y, et al. J Cell Mol Med. 2021 May;25(9):4516-4521. doi: 10.1111/jcmm.16474. Epub 2021 Mar 30. J Cell Mol Med. 2021. PMID: 33783963 Free PMC article.

10

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. Ding C, et al. Neurol Sci. 2022 Nov;43(11):6433-6440. doi: 10.1007/s10072-022-06328-w. Epub 2022 Aug 16. Neurol Sci. 2022. PMID: 35971044

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