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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.

A novel autosomal dominant leukodystrophy with specific MRI pattern.

Corlobé A, Taithe F, Clavelou P, Pierre E, Carra-Dallière C, Ayrignac X, Mouzat K, Lumbroso S, Menjot de Champfleur N, Koenig M, Boespflug-Tanguy O, Labauge P.

J Neurol. 2015;262(4):988-91. doi: 10.1007/s00415-015-7660-4. Epub 2015 Feb 17.

PMID:
25683759
3.

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P.

Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19.

PMID:
25527826
4.

Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case.

Brunetti V, Ferilli MA, Nociti V, Silvestri G.

Neurology. 2014 Sep 16;83(12):e121. doi: 10.1212/WNL.0000000000000803. No abstract available.

PMID:
25224534
5.

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
6.

Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.

Di Donato I, Dotti MT, Federico A.

J Alzheimers Dis. 2014;42 Suppl 3:S27-35. doi: 10.3233/JAD-141026. Review.

PMID:
24958462
7.

Adult-onset leukodystrophy: review of 3 clinicopathologic phenotypes and a proposed classification.

Alturkustani M, Sharma M, Hammond R, Ang LC.

J Neuropathol Exp Neurol. 2013 Nov;72(11):1090-103. doi: 10.1097/NEN.0000000000000008.

PMID:
24128683
8.

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
9.

Adult-onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder.

Flanagan EP, Gavrilova RH, Boeve BF, Kumar N, Jelsing EJ, Silber MH.

Neurology. 2013 Jan 1;80(1):118-20. doi: 10.1212/WNL.0b013e31827b1b2a. Epub 2012 Dec 12. No abstract available.

PMID:
23243074
10.

Inflammatory-like presentation of CADASIL: a diagnostic challenge.

Collongues N, Derache N, Blanc F, Labauge P, de Seze J, Defer G.

BMC Neurol. 2012 Aug 21;12:78. doi: 10.1186/1471-2377-12-78.

11.

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
12.

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.

Schuster J, Sundblom J, Thuresson AC, Hassin-Baer S, Klopstock T, Dichgans M, Cohen OS, Raininko R, Melberg A, Dahl N.

Neurogenetics. 2011 Feb;12(1):65-72. doi: 10.1007/s10048-010-0269-y. Epub 2011 Jan 12.

PMID:
21225301
13.

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy.

Guaraldi P, Donadio V, Capellari S, Contin M, Casadio MC, Montagna P, Liguori R, Cortelli P.

Auton Neurosci. 2011 Jan 20;159(1-2):123-6. doi: 10.1016/j.autneu.2010.07.011. Epub 2010 Aug 16.

PMID:
20719577
14.

Mutations in the lamin B1 gene are not present in multiple sclerosis.

Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A.

Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x.

PMID:
19348623
15.

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.

Meijer IA, Simoes-Lopes AA, Laurent S, Katz T, St-Onge J, Verlaan DJ, Dupré N, Thibault M, Mathurin J, Bouchard JP, Rouleau GA.

Arch Neurol. 2008 Nov;65(11):1496-501. doi: 10.1001/archneur.65.11.1496.

PMID:
19001169
16.

MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

Sundblom J, Melberg A, Kalimo H, Smits A, Raininko R.

AJNR Am J Neuroradiol. 2009 Feb;30(2):328-35. doi: 10.3174/ajnr.A1354. Epub 2008 Oct 22.

17.

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
18.

MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

Melberg A, Hallberg L, Kalimo H, Raininko R.

AJNR Am J Neuroradiol. 2006 Apr;27(4):904-11.

19.

Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics.

Itoh K, Shiga K, Shimizu K, Muranishi M, Nakagawa M, Fushiki S.

Acta Neuropathol. 2006 Jan;111(1):39-45. Epub 2005 Nov 23.

PMID:
16328511
20.

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

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