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Results: 1 to 20 of 45

1.

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.

Yu-Wai-Man P, Pyle A, Griffin H, Santibanez-Korev M, Horvath R, Chinnery PF.

Br J Ophthalmol. 2014 May;98(5):711-3. doi: 10.1136/bjophthalmol-2013-304534. Epub 2014 Jan 23. No abstract available.

PMID:
24457356
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Retinal segmentation as noninvasive technique to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay.

Garcia-Martin E, Pablo LE, Gazulla J, Vela A, Larrosa JM, Polo V, Marques ML, Alfaro J.

Invest Ophthalmol Vis Sci. 2013 Oct 29;54(10):7137-42. doi: 10.1167/iovs.13-12726.

PMID:
24114536
[PubMed - indexed for MEDLINE]
3.

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Tzoulis C, Johansson S, Haukanes BI, Boman H, Knappskog PM, Bindoff LA.

PLoS One. 2013 Jun 13;8(6):e66145. doi: 10.1371/journal.pone.0066145. Print 2013.

PMID:
23785480
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Oguz KK, Haliloglu G, Temucin C, Gocmen R, Has AC, Doerschner K, Dolgun A, Alikasifoglu M.

AJNR Am J Neuroradiol. 2013 Oct;34(10):1952-7. doi: 10.3174/ajnr.A3488. Epub 2013 Apr 18.

PMID:
23598833
[PubMed - indexed for MEDLINE]
5.

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L.

Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41.

PMID:
23497566
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Romano A, Tessa A, Barca A, Fattori F, de Leva MF, Terracciano A, Storelli C, Santorelli FM, Verri T.

Hum Mutat. 2013 Mar;34(3):525-37. doi: 10.1002/humu.22269.

PMID:
23280630
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Diversity of ARSACS mutations in French-Canadians.

Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B.

Can J Neurol Sci. 2013 Jan;40(1):61-6.

PMID:
23250129
[PubMed - indexed for MEDLINE]
8.

Copy number variation in pediatric multiple sclerosis.

McElroy JP, Krupp LB, Johnson BA, McCauley JL, Qi Z, Caillier SJ, Gourraud PA, Yu J, Nathanson L, Belman AL, Hauser SL, Waubant E, Hedges DJ, Oksenberg JR.

Mult Scler. 2013 Jul;19(8):1014-21. doi: 10.1177/1352458512469696. Epub 2012 Dec 13.

PMID:
23239789
[PubMed - indexed for MEDLINE]
9.

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.

Stevens JC, Murphy SM, Davagnanam I, Phadke R, Anderson G, Nethisinghe S, Bremner F, Giunti P, Reilly MM.

J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):114-6. doi: 10.1136/jnnp-2012-303634. Epub 2012 Nov 3. No abstract available.

PMID:
23123642
[PubMed - indexed for MEDLINE]
10.

Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

Garcia-Martin E, Pablo LE, Gazulla J, Polo V, Ferreras A, Larrosa JM.

Br J Ophthalmol. 2013 Feb;97(2):238-41. doi: 10.1136/bjophthalmol-2012-302309. Epub 2012 Oct 17. No abstract available.

PMID:
23077228
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Miyatake S, Miyake N, Doi H, Saitsu H, Ogata K, Kawai M, Matsumoto N.

Intern Med. 2012;51(16):2221-6. Epub 2012 Aug 15.

PMID:
22892508
[PubMed - indexed for MEDLINE]
Free Article
12.

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, Uziel G, D'Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C.

Eur J Neurol. 2013 Jan;20(1):138-46. doi: 10.1111/j.1468-1331.2012.03815.x. Epub 2012 Jul 21.

PMID:
22816526
[PubMed - indexed for MEDLINE]
13.

Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.

Verhoeven WM, Egger JI, Ahmed AI, Kremer BP, Vermeer S, van de Warrenburg BP.

Psychopathology. 2012;45(3):193-9. doi: 10.1159/000331319. Epub 2012 Mar 22.

PMID:
22441213
[PubMed - indexed for MEDLINE]
14.

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS.

Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6. doi: 10.1073/pnas.1113166109. Epub 2012 Jan 17.

PMID:
22307627
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Middle cerebellar peduncles and Pontine T2 hypointensities in ARSACS.

Shimazaki H, Takiyama Y, Honda J, Sakoe K, Namekawa M, Tsugawa J, Tsuboi Y, Suzuki C, Baba M, Nakano I.

J Neuroimaging. 2013 Jan;23(1):82-5. doi: 10.1111/j.1552-6569.2011.00647.x. Epub 2012 Jan 23.

PMID:
22268491
[PubMed - indexed for MEDLINE]
16.

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.

Pablo LE, Garcia-Martin E, Gazulla J, Larrosa JM, Ferreras A, Santorelli FM, Benavente I, Vela A, Marin MA.

Mol Vis. 2011;17:1871-6. Epub 2011 Jul 13.

PMID:
21850161
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Other autosomal recessive and childhood ataxias.

De Michele G, Filla A.

Handb Clin Neurol. 2012;103:343-57. doi: 10.1016/B978-0-444-51892-7.00021-8. Review.

PMID:
21827899
[PubMed - indexed for MEDLINE]
18.

Is the ataxia of Charlevoix-Saguenay a developmental disease?

Gazulla J, Vela AC, Marín MA, Pablo L, Santorelli FM, Benavente I, Modrego P, Tintoré M, Berciano J.

Med Hypotheses. 2011 Sep;77(3):347-52. doi: 10.1016/j.mehy.2011.05.011. Epub 2011 Jun 12.

PMID:
21665375
[PubMed - indexed for MEDLINE]
19.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.

Pedroso JL, Braga-Neto P, Abrahão A, Rivero RL, Abdalla C, Abdala N, Barsottini OG.

Arq Neuropsiquiatr. 2011;69(2B):288-91.

PMID:
21625752
[PubMed - indexed for MEDLINE]
Free Article
20.

Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Desserre J, Devos D, Sautière BG, Debruyne P, Santorelli FM, Vuillaume I, Defoort-Dhellemmes S.

Cerebellum. 2011 Dec;10(4):758-62. doi: 10.1007/s12311-011-0286-x.

PMID:
21597885
[PubMed - indexed for MEDLINE]

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