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Results: 1 to 20 of 93

Similar articles for PubMed (Select 24114536)

1.

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
2.

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Vingolo EM, Di Fabio R, Salvatore S, Grieco G, Bertini E, Leuzzi V, Nesti C, Filla A, Tessa A, Pierelli F, Santorelli FM, Casali C.

Eur J Neurol. 2011 Sep;18(9):1187-90. doi: 10.1111/j.1468-1331.2010.03335.x. Epub 2011 Jan 25.

PMID:
21410841
3.

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.

4.

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
5.

Retinal segmentation to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay: critique on study methodology and results.

Albrecht P, Balk L, Oberwahrenbrock T, Petzold A, Paul F.

Invest Ophthalmol Vis Sci. 2014 Aug 4;55(8):4728. doi: 10.1167/iovs.14-14876. No abstract available.

PMID:
25091412
6.

Author response: Retinal segmentation to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay: critique on study methodology and results.

Garcia-Martin E.

Invest Ophthalmol Vis Sci. 2014 Aug 4;55(8):4729-30. doi: 10.1167/iovs.14-14991. No abstract available.

PMID:
25091413
7.

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
8.

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.

9.

New findings in the ataxia of Charlevoix-Saguenay.

Gazulla J, Benavente I, Vela AC, Marín MA, Pablo LE, Tessa A, Barrena MR, Santorelli FM, Nesti C, Modrego P, Tintoré M, Berciano J.

J Neurol. 2012 May;259(5):869-78. doi: 10.1007/s00415-011-6269-5. Epub 2011 Oct 13.

PMID:
21993619
10.

[Finding of retinal nerve fiber layer hypertrophy in ataxia of Charlevoix-Saguenay patients].

Garcia-Martin E, Bambo MP, Gazulla J, Larrosa JM, Polo V, Fuertes MI, Fuentes JL, Ferreras A, Pablo LE.

Arch Soc Esp Oftalmol. 2014 May;89(5):207-11. doi: 10.1016/j.oftal.2012.11.009. Epub 2013 Apr 3. Spanish.

PMID:
24269465
11.

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.

12.

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.

13.

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.

14.

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Mignarri A, Tessa A, Carluccio MA, Rufa A, Storti E, Bonelli G, Marcotulli C, Santorelli FM, Leonardi L, Casali C, Federico A, Dotti MT.

Neurol Sci. 2014 Jan;35(1):95-7. doi: 10.1007/s10072-013-1592-5. Epub 2013 Dec 7.

PMID:
24318559
15.

Sacsinopathies: sacsin-related ataxia.

Takiyama Y.

Cerebellum. 2007;6(4):353-9. doi: 10.1080/14734220701230466. Epub 2007 Feb 28.

PMID:
17853117
16.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F.

Parkinsonism Relat Disord. 2011 Jul;17(6):418-22. doi: 10.1016/j.parkreldis.2011.03.005. Epub 2011 Mar 30. Review.

PMID:
21450511
17.

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.

18.

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Duquette A, Brais B, Bouchard JP, Mathieu J.

Mov Disord. 2013 Dec;28(14):2011-4. doi: 10.1002/mds.25604. Epub 2013 Aug 2.

PMID:
23913799
19.

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
20.

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.

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