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Items: 1 to 20 of 137

1.

Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan).

Ikeda Y, Ohta Y, Kobayashi H, Okamoto M, Takamatsu K, Ota T, Manabe Y, Okamoto K, Koizumi A, Abe K.

Neurology. 2012 Jul 24;79(4):333-41. doi: 10.1212/WNL.0b013e318260436f. Epub 2012 Jun 27.

PMID:
22744658
2.

[Spinocerebellar ataxia type 36 (nicknamed Asidan)].

Abe K, Ikeda Y.

Brain Nerve. 2012 Aug;64(8):937-41. Review. Japanese.

PMID:
22868885
3.

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A.

Am J Hum Genet. 2011 Jul 15;89(1):121-30. doi: 10.1016/j.ajhg.2011.05.015. Epub 2011 Jun 16.

4.

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.

Obayashi M, Stevanin G, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger N, Vighetto A, Desestret V, Tesson C, Wichmann HE, Illig T, Huttenlocher J, Kita Y, Izumi Y, Mizusawa H, Schöls L, Klopstock T, Brice A, Ishikawa K, Dürr A.

J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):986-95. doi: 10.1136/jnnp-2014-309153. Epub 2014 Dec 4.

PMID:
25476002
5.

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ.

Brain. 2012 May;135(Pt 5):1423-35. doi: 10.1093/brain/aws069. Epub 2012 Apr 3.

6.

Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36.

Ikeda Y, Ohta Y, Kurata T, Shiro Y, Takao Y, Abe K.

J Neurol Sci. 2013 Jan 15;324(1-2):109-12. doi: 10.1016/j.jns.2012.10.013. Epub 2012 Nov 7.

PMID:
23140984
7.

Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan.

Abe K, Ikeda Y, Kurata T, Ohta Y, Manabe Y, Okamoto M, Takamatsu K, Ohta T, Takao Y, Shiro Y, Shoji M, Kamiya T, Kobayashi H, Koizumi A.

Eur J Neurol. 2012 Aug;19(8):1070-8. doi: 10.1111/j.1468-1331.2012.03669.x. Epub 2012 Feb 21.

PMID:
22353375
8.

The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients.

Sugihara K, Maruyama H, Morino H, Miyamoto R, Ueno H, Matsumoto M, Kaji R, Kitaguchi H, Yukitake M, Higashi Y, Nishinaka K, Oda M, Izumi Y, Kawakami H.

Mov Disord. 2012 Aug;27(9):1158-63. doi: 10.1002/mds.25092. Epub 2012 Jul 2.

PMID:
22753339
9.

Assessment of swallowing in motor neuron disease and Asidan/SCA36 patients with new methods.

Morimoto N, Yamashita T, Sato K, Kurata T, Ikeda Y, Kusuhara T, Murata N, Abe K.

J Neurol Sci. 2013 Jan 15;324(1-2):149-55. doi: 10.1016/j.jns.2012.10.025. Epub 2012 Nov 10.

PMID:
23146615
10.

Characteristic RNA foci of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 (Asidan).

Liu W, Ikeda Y, Hishikawa N, Yamashita T, Deguchi K, Abe K.

Eur J Neurol. 2014 Nov;21(11):1377-86. doi: 10.1111/ene.12491. Epub 2014 Jul 2.

PMID:
24985895
11.

Spinocerebellar ataxia type 36 in the Han Chinese.

Lee YC, Tsai PC, Guo YC, Hsiao CT, Liu GT, Liao YC, Soong BW.

Neurol Genet. 2016 Apr 12;2(3):e68. doi: 10.1212/NXG.0000000000000068. eCollection 2016 Jun.

12.

Spinocerebellar ataxia type 2 (SCA2): identification of early brain degeneration in one monozygous twin in the initial disease stage.

Hoche F, Balikó L, den Dunnen W, Steinecker K, Bartos L, Sáfrány E, Auburger G, Deller T, Korf HW, Klockgether T, Rüb U, Melegh B.

Cerebellum. 2011 Jun;10(2):245-53. doi: 10.1007/s12311-010-0239-9.

PMID:
21128038
13.

GGCCTG repeats put a hex on Purkinje cells and motor neurons in SCA36.

Ashizawa T, Ranum LP.

Neurology. 2012 Jul 24;79(4):302-3. doi: 10.1212/WNL.0b013e31826043d9. Epub 2012 Jun 27. No abstract available.

PMID:
22744663
14.

Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China.

Zeng S, Zeng J, He M, Zeng X, Zhou Y, Liu Z, Xia K, Pan Q, Jiang H, Shen L, Yan X, Tang B, Wang J.

Clin Genet. 2016 Aug;90(2):141-8. doi: 10.1111/cge.12706. Epub 2016 Jan 20.

PMID:
26661328
15.

[A familial case of spinocerebellar ataxia type 8 (SCA 8)--its clinical findings and an issue about the genetic basis].

Hokezu Y, Takiyama Y, Sakoe K, Nagamatsu K.

Rinsho Shinkeigaku. 2000 Nov;40(11):1116-21. Japanese.

PMID:
11332193
16.
17.

Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites.

Gierga K, Schelhaas HJ, Brunt ER, Seidel K, Scherzed W, Egensperger R, de Vos RA, den Dunnen W, Ippel PF, Petrasch-Parwez E, Deller T, Schöls L, Rüb U.

Neuropathol Appl Neurobiol. 2009 Oct;35(5):515-27. doi: 10.1111/j.1365-2990.2009.01015.x. Epub 2009 Jan 30.

PMID:
19207264
18.

Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration.

Hellenbroich Y, Gierga K, Reusche E, Schwinger E, Deller T, de Vos RA, Zühlke C, Rüb U.

J Neural Transm (Vienna). 2006 Jul;113(7):829-43. Epub 2005 Dec 19.

PMID:
16362839
19.

Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan.

Ikeda Y, Shizuka M, Watanabe M, Okamoto K, Shoji M.

Neurology. 2000 Feb 22;54(4):950-5.

PMID:
10690991
20.

Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.

Zeman A, Stone J, Porteous M, Burns E, Barron L, Warner J.

J Neurol Neurosurg Psychiatry. 2004 Mar;75(3):459-65. Review.

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