269 related articles for article (PubMed ID: 35333324)
21. A novel CSF1R variant in a South Dakota family with CSF1R-related leukoencephalopathy.
Ali S; Tipton PW; Koga S; Middlebrooks EH; Josephs KA; Strongosky A; Dickson DW; Wszolek ZK
Parkinsonism Relat Disord; 2022 Sep; 102():51-53. PubMed ID: 35940158
[No Abstract] [Full Text] [Related]
22. 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]
23. 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; 5():10042. PubMed ID: 25975230
[TBL] [Abstract][Full Text] [Related]
24. AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
Wang D; Yu M; Zhang W; Wang Z; Yuan Y
J Neuropathol Exp Neurol; 2018 Nov; 77(11):997-1000. PubMed ID: 30272204
[TBL] [Abstract][Full Text] [Related]
25. 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
Mol Genet Genomic Med; 2019 Apr; 7(4):e00595. PubMed ID: 30729751
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy.
Kondo Y; Matsushima A; Nagasaki S; Nakamura K; Sekijima Y; Yoshida K
Eur J Neurol; 2020 Feb; 27(2):369-375. PubMed ID: 31520500
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation.
Gore E; Manley A; Dees D; Appleby BS; Lerner AJ
Neurocase; 2016 Jun; 22(3):257-62. PubMed ID: 27092868
[TBL] [Abstract][Full Text] [Related]
30. Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.
Gelfand JM; Greenfield AL; Barkovich M; Mendelsohn BA; Van Haren K; Hess CP; Mannis GN
Brain; 2020 Feb; 143(2):503-511. PubMed ID: 31840744
[TBL] [Abstract][Full Text] [Related]
31. 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
[TBL] [Abstract][Full Text] [Related]
32. 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; 11(9):6093-6101. PubMed ID: 31632577
[TBL] [Abstract][Full Text] [Related]
33.
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]
34. [Loss of homeostatic microglia in rare neurological disorders: implications for cell transplantation].
Ikeuchi T; Fitrah YA; Shu B
Nihon Yakurigaku Zasshi; 2021; 156(4):225-229. PubMed ID: 34193701
[TBL] [Abstract][Full Text] [Related]
35. A novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids.
Du Q; Wang M; Zhou H
Neurol Sci; 2022 Jan; 43(1):411-417. PubMed ID: 33948764
[TBL] [Abstract][Full Text] [Related]
36. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).
Adams SJ; Kirk A; Auer RN
J Clin Neurosci; 2018 Feb; 48():42-49. PubMed ID: 29122458
[TBL] [Abstract][Full Text] [Related]
37. Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A.
Hayer SN; Schelling Y; Hoeflinger P; Hauser S; Schöls L
Stem Cell Res; 2018 Jul; 30():206-209. PubMed ID: 29980109
[TBL] [Abstract][Full Text] [Related]
38. From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.
Guo L; Ikegawa S
J Hum Genet; 2021 Dec; 66(12):1139-1144. PubMed ID: 34135456
[TBL] [Abstract][Full Text] [Related]
39. Analysis of homozygous and heterozygous Csf1r knockout in the rat as a model for understanding microglial function in brain development and the impacts of human CSF1R mutations.
Patkar OL; Caruso M; Teakle N; Keshvari S; Bush SJ; Pridans C; Belmer A; Summers KM; Irvine KM; Hume DA
Neurobiol Dis; 2021 Apr; 151():105268. PubMed ID: 33450391
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]