Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria
出版年份 2013 全文链接
标题
Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria
作者
关键词
-
出版物
MOVEMENT DISORDERS
Volume 28, Issue 6, Pages 787-794
出版商
Wiley
发表日期
2013-05-15
DOI
10.1002/mds.25506
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- SGCE mutations cause psychiatric disorders: clinical and genetic characterization
- (2013) Kathryn J. Peall et al. BRAIN
- Cognition and psychopathology in myoclonus-dystonia
- (2012) Mirjam J van Tricht et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome
- (2011) Christian Johannes Hartmann et al. JOURNAL OF NEUROLOGY
- Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review
- (2011) Kathryn J. Peall et al. MOVEMENT DISORDERS
- Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis
- (2011) Russell C. Dale et al. MOVEMENT DISORDERS
- Expanding the phenomenology of benign hereditary chorea: Evolution from chorea to myoclonus and dystonia
- (2011) Melissa J. Armstrong et al. MOVEMENT DISORDERS
- Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion
- (2010) Pascale Saugier-Veber et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Myoclonus-dystonia: An update
- (2009) Kiyoka Kinugawa et al. MOVEMENT DISORDERS
- Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history
- (2008) M.C.F. Gerrits et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Myoclonus-dystonia: significance of largeSGCEdeletions
- (2008) A. Grünewald et al. HUMAN MUTATION
- Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene
- (2008) C. Bonnet et al. JOURNAL OF HUMAN GENETICS
- Myoclonus-dystonia: clinical and genetic evaluation of a large cohort
- (2008) K Ritz et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ɛ-sarcoglycan mutations
- (2008) Deborah Raymond et al. MOVEMENT DISORDERS
- Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp
- (2008) Vasiliki Koukouni et al. MOVEMENT DISORDERS
- Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
- (2007) Nardo Nardocci et al. MOVEMENT DISORDERS
- Large deletions account for an increasing number of mutations inSGCE
- (2007) Fabin Han et al. MOVEMENT DISORDERS
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