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Items: 1 to 20 of 133

1.

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
2.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.

Martin MH, Bouchard JP, Sylvain M, St-Onge O, Truchon S.

AJNR Am J Neuroradiol. 2007 Sep;28(8):1606-8. Review.

3.

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.

4.

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
5.

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
6.

Measuring brain stem and cerebellar damage in parkinsonian syndromes using diffusion tensor MRI.

Blain CR, Barker GJ, Jarosz JM, Coyle NA, Landau S, Brown RG, Chaudhuri KR, Simmons A, Jones DK, Williams SC, Leigh PN.

Neurology. 2006 Dec 26;67(12):2199-205.

PMID:
17190944
7.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.

Kamada S, Okawa S, Imota T, Sugawara M, Toyoshima I.

J Neurol. 2008 Jun;255(6):803-6. doi: 10.1007/s00415-008-0672-6. Epub 2008 May 19.

PMID:
18484239
8.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B.

Neurogenetics. 2008 Jul;9(3):207-14. doi: 10.1007/s10048-008-0131-7. Epub 2008 May 9. Erratum in: Neurogenetics. 2009 Feb;10(1):87.

9.

Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Leavitt JA, Singer W, Brown WL, Pulido JS, Brodsky MC.

J Neuroophthalmol. 2014 Dec;34(4):369-71. doi: 10.1097/WNO.0000000000000174.

PMID:
25237835
10.

Magnetic resonance imaging demonstrates differential atrophy of pontine base and tegmentum in Machado-Joseph disease.

Yoshizawa T, Watanabe M, Frusho K, Shoji S.

J Neurol Sci. 2003 Nov 15;215(1-2):45-50.

PMID:
14568127
11.

Sacsinopathies: sacsin-related ataxia.

Takiyama Y.

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

PMID:
17853117
12.

Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6.

Murata Y, Kawakami H, Yamaguchi S, Nishimura M, Kohriyama T, Ishizaki F, Matsuyama Z, Mimori Y, Nakamura S.

Arch Neurol. 1998 Oct;55(10):1348-52.

PMID:
9779664
13.

[A case showing Wallerian degeneration of the bilateral middle cerebellar peduncles on MRI followed by the right pontine infarction].

Fujii A, Tokuda A, Yoneda M, Kuriyama M.

Rinsho Shinkeigaku. 2004 Feb;44(2):105-7. Japanese.

PMID:
15199759
14.

[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].

Anheim M, Chaigne D, Fleury M, Santorelli FM, De Sèze J, Durr A, Brice A, Koenig M, Tranchant C.

Rev Neurol (Paris). 2008 Apr;164(4):363-8. doi: 10.1016/j.neurol.2008.02.001. Epub 2008 Mar 25. French.

PMID:
18439928
15.

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
16.

The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.

Feraco P, Mirabelli-Badenier M, Severino M, Alpigiani MG, Di Rocco M, Biancheri R, Rossi A.

AJNR Am J Neuroradiol. 2012 Dec;33(11):2062-7. doi: 10.3174/ajnr.A3151. Epub 2012 Jun 21.

17.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Takiyama Y.

Neuropathology. 2006 Aug;26(4):368-75.

PMID:
16961075
18.

Diffusion- and T2-weighted MRI of the transverse pontine fibres in spinocerebellar degeneration.

Adachi M, Hosoya T, Yamaguchi K, Kawanami T, Kato T.

Neuroradiology. 2000 Nov;42(11):803-9.

PMID:
11151684
19.

Flattened facial colliculus on magnetic resonance imaging in Machado-Joseph disease.

Ogawa Y, Ito S, Makino T, Kanai K, Arai K, Kuwabara S.

Mov Disord. 2012 Jul;27(8):1041-6. doi: 10.1002/mds.25060. Epub 2012 Jun 12.

PMID:
22693147
20.

Progressive supranuclear palsy: MRI and pathological findings.

Yagishita A, Oda M.

Neuroradiology. 1996 May;38 Suppl 1:S60-6.

PMID:
8811682
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