560 related articles for article (PubMed ID: 30982608)
1. Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Oosterhof N; Chang IJ; Karimiani EG; Kuil LE; Jensen DM; Daza R; Young E; Astle L; van der Linde HC; Shivaram GM; Demmers J; Latimer CS; Keene CD; Loter E; Maroofian R; van Ham TJ; Hevner RF; Bennett JT
Am J Hum Genet; 2019 May; 104(5):936-947. PubMed ID: 30982608
[TBL] [Abstract][Full Text] [Related]
2. 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
Cell Rep; 2018 Jul; 24(5):1203-1217.e6. PubMed ID: 30067976
[TBL] [Abstract][Full Text] [Related]
3. Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.
Berdowski WM; van der Linde HC; Breur M; Oosterhof N; Beerepoot S; Sanderson L; Wijnands LI; de Jong P; Tsai-Meu-Chong E; de Valk W; de Witte M; van IJcken WFJ; Demmers J; van der Knaap MS; Bugiani M; Wolf NI; van Ham TJ
Acta Neuropathol; 2022 Aug; 144(2):211-239. PubMed ID: 35713703
[TBL] [Abstract][Full Text] [Related]
4. 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
Eur J Neurol; 2017 Jan; 24(1):37-45. PubMed ID: 27680516
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. 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
JAMA Neurol; 2016 Dec; 73(12):1433-1439. PubMed ID: 27749956
[TBL] [Abstract][Full Text] [Related]
7. 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
Eur J Neurol; 2018 Jan; 25(1):142-147. PubMed ID: 28921817
[TBL] [Abstract][Full Text] [Related]
8.
Konno T; Kasanuki K; Ikeuchi T; Dickson DW; Wszolek ZK
Neurology; 2018 Dec; 91(24):1092-1104. PubMed ID: 30429277
[TBL] [Abstract][Full Text] [Related]
9. Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Li X; Hu B; Guan X; Wang Z; Zhou Y; Sun H; Zhang X; Li Y; Huang X; Zhao Y; Wang X; Xu H; Zhang YW; Wang Z; Zheng H
J Neuroinflammation; 2023 May; 20(1):134. PubMed ID: 37259140
[TBL] [Abstract][Full Text] [Related]
10. 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
[TBL] [Abstract][Full Text] [Related]
11. Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J; Souza J; Santos ML; Wszolek ZK
Orphanet J Rare Dis; 2023 Jun; 18(1):160. PubMed ID: 37349768
[TBL] [Abstract][Full Text] [Related]
12. Zebrafish macrophage developmental arrest underlies depletion of microglia and reveals Csf1r-independent metaphocytes.
Kuil LE; Oosterhof N; Ferrero G; Mikulášová T; Hason M; Dekker J; Rovira M; van der Linde HC; van Strien PM; de Pater E; Schaaf G; Bindels EM; Wittamer V; van Ham TJ
Elife; 2020 May; 9():. PubMed ID: 32367800
[TBL] [Abstract][Full Text] [Related]
13. 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; 69(3):779-791. PubMed ID: 33079443
[TBL] [Abstract][Full Text] [Related]
14. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Guo L; Bertola DR; Takanohashi A; Saito A; Segawa Y; Yokota T; Ishibashi S; Nishida Y; Yamamoto GL; Franco JFDS; Honjo RS; Kim CA; Musso CM; Timmons M; Pizzino A; Taft RJ; Lajoie B; Knight MA; Fischbeck KH; Singleton AB; Ferreira CR; Wang Z; Yan L; Garbern JY; Simsek-Kiper PO; Ohashi H; Robey PG; Boyde A; Matsumoto N; Miyake N; Spranger J; Schiffmann R; Vanderver A; Nishimura G; Passos-Bueno MRDS; Simons C; Ishikawa K; Ikegawa S
Am J Hum Genet; 2019 May; 104(5):925-935. PubMed ID: 30982609
[TBL] [Abstract][Full Text] [Related]
15. Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy.
Han J; Sarlus H; Wszolek ZK; Karrenbauer VD; Harris RA
Acta Neuropathol Commun; 2020 Dec; 8(1):217. PubMed ID: 33287883
[TBL] [Abstract][Full Text] [Related]
16. A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.
Stables J; Green EK; Sehgal A; Patkar OL; Keshvari S; Taylor I; Ashcroft ME; Grabert K; Wollscheid-Lengeling E; Szymkowiak S; McColl BW; Adamson A; Humphreys NE; Mueller W; Starobova H; Vetter I; Shabestari SK; Blurton-Jones MM; Summers KM; Irvine KM; Pridans C; Hume DA
Development; 2022 Apr; 149(8):. PubMed ID: 35333324
[TBL] [Abstract][Full Text] [Related]
17. 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
Am J Med Genet A; 2021 Jun; 185(6):1888-1896. PubMed ID: 33749994
[TBL] [Abstract][Full Text] [Related]
18. 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
J Neurol Sci; 2015 Feb; 349(1-2):232-8. PubMed ID: 25563800
[TBL] [Abstract][Full Text] [Related]
19. Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy.
Kempthorne L; Yoon H; Madore C; Smith S; Wszolek ZK; Rademakers R; Kim J; Butovsky O; Dickson DW
Acta Neuropathol Commun; 2020 May; 8(1):72. PubMed ID: 32430064
[TBL] [Abstract][Full Text] [Related]
20. 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
J Cell Mol Med; 2021 May; 25(9):4516-4521. PubMed ID: 33783963
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]