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Results: 1 to 20 of 125

1.

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.

PMID:
22843259
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
23787135
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

Kondo Y, Kinoshita M, Fukushima K, Yoshida K, Ikeda S.

Intern Med. 2013;52(4):503-6. Epub 2013 Feb 15.

PMID:
23411710
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
23816250
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
23408870
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa M, Isami A, Okazaki K, Yokoo H, Itoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A, Ikeuchi T.

Neurology. 2014 Jan 14;82(2):139-48. doi: 10.1212/WNL.0000000000000046. Epub 2013 Dec 13.

PMID:
24336230
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
23649896
[PubMed - indexed for MEDLINE]
14.

[Hereditary diffuse leukoencephalopathy with spheroids (HDLS): a review of the literature on its clinical characteristics and mutations in the colony-stimulating factor-1 receptor gene].

Konno T, Tada M, Tada M, Nishizawa M, Ikeuchi T.

Brain Nerve. 2014 May;66(5):581-90. Review. Japanese.

PMID:
24807373
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
22197934
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
24145216
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.

Sundal C, Lash J, Aasly J, Øygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK.

J Neurol Sci. 2012 Mar 15;314(1-2):130-7. doi: 10.1016/j.jns.2011.10.006. Epub 2011 Nov 1.

PMID:
22050953
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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 Jan 16. doi: 10.1111/bpa.12120. [Epub ahead of print]

PMID:
24428556
[PubMed - as supplied by publisher]
20.

[Recent advances of study on hereditary diffuse leukoencephalopathy with spheroids].

Cheng X, Xu J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):330-3. doi: 10.3760/cma.j.issn.1003-9406.2014.03.016. Review. Chinese.

PMID:
24928013
[PubMed - indexed for MEDLINE]

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