Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2-Reference-Cited by-同舟云学术

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Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2

Published:2013-01-24 Issue:9 Volume:34 Page:1629-1632
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Choi Kwang-Dong,Yook Ji-Won,Kim Min-Ji,Kim Hyang-Sook,Park Young-Eun,Kim Ji Soo,Choi Jae-Hwan,Shin Jin-Hong,Kim Dae-Seong

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s10072-013-1298-8.pdf

Reference13 articles.

1. Jen JC, Graves TD, Hess EJ et al (2007) Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 130:2484–2493

2. Strupp M, Zwergal A, Brandt T (2007) Episodic ataxia type 2. Neurotherapeutics 4:267–273

3. Kim JM, Kim JS, Ki CS, Jeon BS (2006) Episodic ataxia type 2 due to a deletion mutation in the CACNA1A gene in a Korean family. J Clin Neurol 2:268–271

4. Wright GD, Gegan M, Deighton CM, Wallis G, Doherty M (1998) Evidence for genetic anticipation in nodal osteoarthritis. Ann Rheum Dis 57:524–526

5. Nilbert M, Timshel S, Bernstein I, Larsen K (2009) Role for genetic anticipation in Lynch syndrome. J Clin Oncol 27:360–364

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