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Items: 11

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1.

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H.

JAMA Neurol. 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229.

PMID:
27749956
2.

LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.

Finnsson J, Sundblom J, Dahl N, Melberg A, Raininko R.

Ann Neurol. 2015 Sep;78(3):412-25. doi: 10.1002/ana.24452. Epub 2015 Jul 27.

3.

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.

DiFrancesco JC, Novara F, Zuffardi O, Forlino A, Gioia R, Cossu F, Bolognesi M, Andreoni S, Saracchi E, Frigeni B, Stellato T, Tolnay M, Winkler DT, Remida P, Isimbaldi G, Ferrarese C.

Neurol Sci. 2015 Feb;36(2):323-30. doi: 10.1007/s10072-014-1944-9. Epub 2014 Sep 12.

PMID:
25213617
4.

¹H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

Finnsson J, Melberg A, Raininko R.

Neuroradiology. 2013 Aug;55(8):933-939. doi: 10.1007/s00234-013-1174-5. Epub 2013 May 1.

PMID:
23636437
5.

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
6.

Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy.

Jaklin C, Heiliger K, Hempel M, Sollacher D, Cohen M, Makowski CC, Meitinger T, Jauch A, Oexle K.

Eur J Med Genet. 2012 Oct;55(10):568-72. doi: 10.1016/j.ejmg.2012.06.010. Epub 2012 Jul 7.

PMID:
22776853
7.

Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions.

Martinez-Saez E, Shah S, Costa C, Fleminger S, Connor S, Bodi I.

Neuropathology. 2012 Jun;32(3):285-92. doi: 10.1111/j.1440-1789.2011.01257.x. Epub 2011 Oct 18.

PMID:
22007734
8.

Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS.

Keegan BM, Giannini C, Parisi JE, Lucchinetti CF, Boeve BF, Josephs KA.

Neurology. 2008 Mar 25;70(13 Pt 2):1128-33. doi: 10.1212/01.wnl.0000304045.99153.8f. Epub 2008 Feb 20.

PMID:
18287567
9.

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature.

Marotti JD, Tobias S, Fratkin JD, Powers JM, Rhodes CH.

Acta Neuropathol. 2004 Jun;107(6):481-8. Epub 2004 Apr 6.

PMID:
15067553
10.

A new familial adult-onset leukodystrophy manifesting as cerebellar ataxia and dementia.

Tagawa A, Ono S, Inoue K, Hosoi N, Kaneda K, Suzuki M, Nagao K, Shimizu N.

J Neurol Sci. 2001 Jan 15;183(1):47-55.

PMID:
11166794
11.

MRI and CT in an autosomal-dominant, adult-onset leukodystrophy.

Bergui M, Bradac GB, Leombruni S, Vaula G, Quattrocolo G.

Neuroradiology. 1997 Jun;39(6):423-6.

PMID:
9225322

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