These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 34135456)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Homozygous mutation in
    Daghagh H; Rahbar Kafshboran H; Daneshmandpour Y; Nasiri Aghdam M; Talebian S; Nouri Nojadeh J; Hamzeiy H; Biskup S; Sakhinia E
    Bioimpacts; 2023; 13(3):183-190. PubMed ID: 37431483
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Modeling CSF-1 receptor deficiency diseases - how close are we?
    Chitu V; Gökhan Ş; Stanley ER
    FEBS J; 2022 Sep; 289(17):5049-5073. PubMed ID: 34145972
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus.
    Wang M; Zhang X
    Neurogenetics; 2019 Aug; 20(3):155-160. PubMed ID: 31093799
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids.
    Du Q; Chen H; Shi Z; Zhang Y; Wang J; Zhou H
    Neurol Sci; 2019 Jun; 40(6):1287-1290. PubMed ID: 30617447
    [No Abstract]   [Full Text] [Related]  

  • 14. A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.
    Kawakami I; Iseki E; Kasanuki K; Minegishi M; Sato K; Hino H; Shibuya K; Fujisawa K; Higashi S; Akiyama H; Furuta A; Takanashi M; Li Y; Hattori N; Mitsuyama Y; Arai H
    J Neurol Sci; 2016 Aug; 367():349-55. PubMed ID: 27423618
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
    Mitsui J; Matsukawa T; Ishiura H; Higasa K; Yoshimura J; Saito TL; Ahsan B; Takahashi Y; Goto J; Iwata A; Niimi Y; Riku Y; Goto Y; Mano K; Yoshida M; Morishita S; Tsuji S
    Am J Med Genet B Neuropsychiatr Genet; 2012 Dec; 159B(8):951-7. PubMed ID: 23038421
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
    La Piana R; Webber A; Guiot MC; Del Pilar Cortes M; Brais B
    Neurogenetics; 2014 Oct; 15(4):289-94. PubMed ID: 25012610
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CSF1R mutations link POLD and HDLS as a single disease entity.
    Nicholson AM; Baker MC; Finch NA; Rutherford NJ; Wider C; Graff-Radford NR; Nelson PT; Clark HB; Wszolek ZK; Dickson DW; Knopman DS; Rademakers R
    Neurology; 2013 Mar; 80(11):1033-40. PubMed ID: 23408870
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.