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SGCE gene

Known as: SARCOGLYCAN, EPSILON, SGCE, sarcoglycan epsilon 
National Institutes of Health

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Related topics

2 relations
SGCB geneepsilon-Sarcoglycan

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus–dystonia
istry, and coagulation tests were performed every 2 weeks and adverse events assessed. Additionally, we recorded blood pressure… 
Review
2017
Review
2017
Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS)
Myoclonus–dystonia (M–D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the… 
Review
2016
Review
2016
Early deep brain stimulation in patients with myoclonus-dystonia syndrome
2013
2013
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome
Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs… 
Review
2013
Review
2013
Incomplete nonsense‐mediated decay facilitates detection of a multi‐exonic deletion mutation in SGCE
Mutations in SGCE represent the major cause of the myoclonus‐dystonia syndrome (DYT11), an autosomal dominant disorder of reduced… 
2012
2012
A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype
Background:  Myoclonus dystonia is an autosomal dominant dystonia‐plus syndrome, characterized by symptom variability within… 
2011
2011
A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome
Here we describe the clinical and genetic findings of a 40 year old female patient and her 2-years-younger sister (Fig. 1… 
2010
2010
Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome.
2010
2010
Epigenetic states and expression of imprinted genes in human embryonic stem cells.
AIM To investigate the epigenetic states and expression of imprinted genes in five human embryonic stem cell (hESC) lines derived… 
2003
2003
Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.
Autosomal dominant myoclonus-dystonia syndrome (MDS) is characterized by myoclonic and/or dystonic movements with onset as early… 
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