Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 124

1.

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 12;80(11):1033-40. doi: 10.1212/WNL.0b013e31828726a7. Epub 2013 Feb 13.

2.

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 15;349(1-2):232-8. doi: 10.1016/j.jns.2014.12.021. Epub 2014 Dec 20.

PMID:
25563800
3.

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 15;5:10042. doi: 10.1038/srep10042.

4.

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 25;44(2):200-5. doi: 10.1038/ng.1027.

5.

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 15;367:349-55. doi: 10.1016/j.jns.2016.06.013. Epub 2016 Jun 7.

PMID:
27423618
6.

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.

Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK.

Parkinsonism Relat Disord. 2013 Oct;19(10):869-77. doi: 10.1016/j.parkreldis.2013.05.013. Epub 2013 Jun 17.

7.

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. doi: 10.1111/bpa.12120. Epub 2014 Mar 16.

PMID:
24428556
8.

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. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4.

PMID:
23038421
9.

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. doi: 10.3233/JAD-150097.

PMID:
26401554
10.

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H.

JAMA Neurol. 2013 Jul;70(7):875-82. doi: 10.1001/jamaneurol.2013.698.

11.

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.

Stabile C, Taglia I, Battisti C, Bianchi S, Federico A.

Neurol Sci. 2016 Sep;37(9):1565-9. doi: 10.1007/s10072-016-2634-6. Epub 2016 Jun 23. Review.

PMID:
27338940
13.

Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids.

Riku Y, Ando T, Goto Y, Mano K, Iwasaki Y, Sobue G, Yoshida M.

J Neuropathol Exp Neurol. 2014 Dec;73(12):1183-90. doi: 10.1097/NEN.0000000000000139.

PMID:
25383640
14.

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.

Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O.

Eur J Neurol. 2015 Feb;22(2):328-33. doi: 10.1111/ene.12572. Epub 2014 Oct 13.

15.

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

Pridans C, Sauter KA, Baer K, Kissel H, Hume DA.

Sci Rep. 2013 Oct 22;3:3013. doi: 10.1038/srep03013.

16.

A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis.

Saitoh BY, Yamasaki R, Hayashi S, Yoshimura S, Tateishi T, Ohyagi Y, Murai H, Iwaki T, Yoshida K, Kira J.

Mult Scler. 2013 Sep;19(10):1367-70. doi: 10.1177/1352458513489854. Epub 2013 May 22.

PMID:
23698128
17.

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R.

Brain. 2016 Jun;139(Pt 6):1666-72. doi: 10.1093/brain/aww066. Epub 2016 May 5.

PMID:
27190017
18.

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L.

Neurology. 2013 Dec 3;81(23):2039-44. doi: 10.1212/01.wnl.0000436945.01023.ac. Epub 2013 Nov 6.

PMID:
24198292
19.

[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. doi: 10.3760/cma.j.issn.1003-9406.2015.02.012. Chinese.

PMID:
25863088
20.

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

Ahmed R, Guerreiro R, Rohrer JD, Guven G, Rossor MN, Hardy J, Fox NC.

J Neurol Sci. 2013 Sep 15;332(1-2):141-4. doi: 10.1016/j.jns.2013.06.007. Epub 2013 Jun 28.

Supplemental Content

Support Center