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4. 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]
5. A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids. Di Donato I; Stabile C; Bianchi S; Taglia I; Mignarri A; Salvatore S; Giorgio E; Brusco A; Simone I; Dotti MT; Federico A J Alzheimers Dis; 2015; 47(2):319-22. PubMed ID: 26401554 [TBL] [Abstract][Full Text] [Related]
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7. 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]
8. 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]
9. 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 Brain Pathol; 2014 Sep; 24(5):452-8. PubMed ID: 24428556 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids. Shu Y; Long L; Liao S; Yang J; Li J; Qiu W; Yang Y; Bao J; Wu A; Hu X; Lu Z BMC Neurol; 2016 Sep; 16(1):171. PubMed ID: 27619214 [TBL] [Abstract][Full Text] [Related]
12. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement. Körtvelyessy P; Krägeloh-Mann I; Mawrin C; Heinze HJ; Bittner D; Wieland I; Zenker M; Nestor P J Neurol Sci; 2015 Nov; 358(1-2):515-7. PubMed ID: 26476772 [No Abstract] [Full Text] [Related]
13. [Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids]. Cheng X; Shen W; Zou H; Shen L; Gu X; Huang D; Sun Y; Wang B; Tian Q; Xu J Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr; 32(2):208-12. PubMed ID: 25863088 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Rademakers R; Baker M; Nicholson AM; Rutherford NJ; Finch N; Soto-Ortolaza A; Lash J; Wider C; Wojtas A; DeJesus-Hernandez M; Adamson J; Kouri N; Sundal C; Shuster EA; Aasly J; MacKenzie J; Roeber S; Kretzschmar HA; Boeve BF; Knopman DS; Petersen RC; Cairns NJ; Ghetti B; Spina S; Garbern J; Tselis AC; Uitti R; Das P; Van Gerpen JA; Meschia JF; Levy S; Broderick DF; Graff-Radford N; Ross OA; Miller BB; Swerdlow RH; Dickson DW; Wszolek ZK Nat Genet; 2011 Dec; 44(2):200-5. PubMed ID: 22197934 [TBL] [Abstract][Full Text] [Related]
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