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Results: 1 to 20 of 121

Similar articles for PubMed (Select 23698128)

1.

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
2.

A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis.

Inui T, Kawarai T, Fujita K, Kawamura K, Mitsui T, Orlacchio A, Kamada M, Abe T, Izumi Y, Kaji R.

J Neurol Sci. 2013 Nov 15;334(1-2):192-5. doi: 10.1016/j.jns.2013.08.020. Epub 2013 Aug 29.

PMID:
24034409
3.
4.

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
5.

Hereditary diffuse leukoencephalopathy with spheroids characterized by spastic hemiplegia preceding mental impairment.

Kitani-Morii F, Kasai T, Tomonaga K, Saito K, Mizuta I, Yoshioka A, Nakagawa M, Mizuno T.

Intern Med. 2014;53(12):1377-80. Epub 2014 Jun 15.

6.

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
7.

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
8.

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.

9.

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.

10.

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
11.

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
12.

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
13.

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.

14.

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

16.

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
17.

Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.

Kleinfeld K, Mobley B, Hedera P, Wegner A, Sriram S, Pawate S.

J Neurol. 2013 Feb;260(2):558-71. doi: 10.1007/s00415-012-6680-6. Epub 2012 Sep 30. Review.

PMID:
23052599
18.

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.

19.

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.

20.

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.

PMID:
25311247
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