Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.

Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.

Item
http://www.wikidata.org/entity/Q48721487
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiencySGCE mutations cause psychiatric disorders: clinical and genetic characterizationUntethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunctionSGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.The genetics of dystonias.EFNS guidelines on diagnosis and treatment of primary dystonias.Milestones in dystonia.Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review.Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.Responsiveness to levodopa in epsilon-sarcoglycan deletions.No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations.Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene.A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
P2860

Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.

Item
http://www.wikidata.org/entity/Q48721487
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
@en
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
@nl
type
label
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
@en
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
@nl
prefLabel
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
@en
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698