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Items: 1 to 20 of 105

1.

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.

2.

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.

3.

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 do Y, 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
4.

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
5.

[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment].

Schuberth M, Levin J, Sawalhe D, Schwarzkopf R, von Baumgarten L, Ertl-Wagner B, Rominger A, Arzberger T, Kretzschmar HA, Froböse T, Diehl-Schmid J, Biskup S, Danek A.

Nervenarzt. 2014 Apr;85(4):465-70. doi: 10.1007/s00115-014-4052-4. German.

PMID:
24706185
6.

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.

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.

Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids.

Terasawa Y, Osaki Y, Kawarai T, Sugimoto T, Orlacchio A, Abe T, Izumi Y, Kaji R.

J Neurol Sci. 2013 Dec 15;335(1-2):213-5. doi: 10.1016/j.jns.2013.08.027. Epub 2013 Aug 30.

PMID:
24094860
9.

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.

10.

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
11.

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. doi: 10.1007/s10048-014-0413-1. Epub 2014 Jul 12.

PMID:
25012610
12.

[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
13.

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.

14.

MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

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

Neurology. 2012 Aug 7;79(6):566-74. doi: 10.1212/WNL.0b013e318263575a. Epub 2012 Jul 25.

15.

[Neuropathology of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)].

Oyanagi K.

Rinsho Shinkeigaku. 2014;54(12):1165-7. doi: 10.5692/clinicalneurol.54.1165. Review. Japanese.

PMID:
25672734
16.

Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Bender B, Klose U, Lindig T, Biskup S, Nägele T, Schöls L, Karle KN.

J Neurol. 2014 Dec;261(12):2351-9. doi: 10.1007/s00415-014-7509-2. Epub 2014 Sep 20.

PMID:
25239393
17.
18.

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
19.

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
20.

Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report.

Kinoshita M, Yoshida K, Oyanagi K, Hashimoto T, Ikeda S.

J Neurol Sci. 2012 Jul 15;318(1-2):115-8. doi: 10.1016/j.jns.2012.03.012. Epub 2012 Apr 14.

PMID:
22503135
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