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Items: 1 to 20 of 61

1.

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):328-333. doi: 10.1111/ene.12572. Epub 2014 Oct 13.

2.

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
3.

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
4.

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.

5.

Diffuse leukoencephalopathy with spheroids: biopsy findings and a novel mutation.

Levin J, Tiedt S, Arzberger T, Biskup S, Schuberth M, Stenglein-Krapf G, Kreth FW, Högen T, la Fougère C, Linn J, van der Knaap MS, Giese A, Kretzschmar HA, Danek A.

Clin Neurol Neurosurg. 2014 Jul;122:113-5. doi: 10.1016/j.clineuro.2014.04.022. Epub 2014 May 4. No abstract available.

PMID:
24908228
6.

[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
7.

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.

Battisti C, Di Donato I, Bianchi S, Monti L, Formichi P, Rufa A, Taglia I, Cerase A, Dotti MT, Federico A.

J Neurol. 2014 Apr;261(4):768-72. doi: 10.1007/s00415-014-7257-3. Epub 2014 Feb 16.

PMID:
24532199
8.

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
9.

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.

10.

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
11.

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
12.

An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders.

Fujioka S, Broderick DF, Sundal C, Baker MC, Rademakers R, Wszolek ZK.

J Neurol. 2013 Oct;260(10):2665-8. doi: 10.1007/s00415-013-7093-x. Epub 2013 Sep 14. Review. No abstract available.

13.

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
14.

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.

15.

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
16.

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):875-882. doi: 10.1001/jamaneurol.2013.698.

17.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; LEGAL ISSUES COMMITTEE.

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

18.
19.

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.

20.

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

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