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Results: 1 to 20 of 500

1.

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.

PMID:
24930661
[PubMed - in process]
Free Article
2.

[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. Chinese.

PMID:
24928013
[PubMed - in process]
3.
4.

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]
5.

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
6.

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]
7.

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
8.

M-CSF receptor mutations in hereditary diffuse leukoencephalopathy with spheroids impair not only kinase activity but also surface expression.

Hiyoshi M, Hashimoto M, Yukihara M, Bhuyan F, Suzu S.

Biochem Biophys Res Commun. 2013 Nov 1;440(4):589-93. doi: 10.1016/j.bbrc.2013.09.141. Epub 2013 Oct 10.

PMID:
24120500
[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.

HDLs protect the MIN6 insulinoma cell line against tunicamycin-induced apoptosis without inhibiting ER stress and without restoring ER functionality.

Puyal J, Pétremand J, Dubuis G, Rummel C, Widmann C.

Mol Cell Endocrinol. 2013 Dec 5;381(1-2):291-301. doi: 10.1016/j.mce.2013.08.016. Epub 2013 Aug 28.

PMID:
23994023
[PubMed - indexed for MEDLINE]
11.

Cardioprotective functions of HDLs.

Rye KA, Barter PJ.

J Lipid Res. 2014 Feb;55(2):168-79. doi: 10.1194/jlr.R039297. Epub 2013 Jun 27.

PMID:
23812558
[PubMed - in process]
12.

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]
13.

Different Stages of White Matter Changes in the Original HDLS Family Revealed by Advanced MRI Techniques.

Sundal C, Jönsson L, Ljungberg M, Zhong J, Tian W, Zhu T, Linden T, Börjesson-Hanson A, Andersen O, Ekholm S.

J Neuroimaging. 2013 Jun 10. doi: 10.1111/jon.12037. [Epub ahead of print]

PMID:
23751174
[PubMed - as supplied by publisher]
14.

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
15.

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
16.

[Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) in early-onset dementia].

Tamaoka A, Mochizuki A, Ishii A, Yamaguchi T, Akamatsu M, Takuma H.

Rinsho Shinkeigaku. 2012;52(11):1390-2. Japanese.

PMID:
23196629
[PubMed - indexed for MEDLINE]
17.

[Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): its clinical concept and the review of the previously reported cases].

Ikeda S.

Rinsho Shinkeigaku. 2012;52(11):1383-5. Japanese.

PMID:
23196627
[PubMed - indexed for MEDLINE]
18.

CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids.

Sundal C, Wszolek Z.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2012 Aug 30 [updated 2013 Jan 17].

PMID:
22934315
[PubMed]
Books & Documents
19.

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
20.

HDLs protect pancreatic β-cells against ER stress by restoring protein folding and trafficking.

Pétremand J, Puyal J, Chatton JY, Duprez J, Allagnat F, Frias M, James RW, Waeber G, Jonas JC, Widmann C.

Diabetes. 2012 May;61(5):1100-11. doi: 10.2337/db11-1221. Epub 2012 Mar 7.

PMID:
22399686
[PubMed - indexed for MEDLINE]
Free PMC Article

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