SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Disease: Cerebellar Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.020 Biomarker group BEFREE Cerebellar dysfunction distinguishes DYT11 positive from negative patients. 23474191 2013
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.020 Biomarker group BEFREE This study provides the first neurophysiological evidence of cerebellar dysfunction in DYT11 dystonia and supports a role of cerebellar dysfunction in the myoclonus-dystonia phenotype. 21386109 2011