Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Myoclonic dystonia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Myoclonic dystonia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
"""Jerky"" dystonia in children: spectrum of phenotypes and genetic testing."
|
19117362 |
2009 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
(1) To study the neuropsychological and psychopathological profile in myoclonus-dystonia (M-D) patients with and without a mutation in the DYT11 gene.
|
22626943 |
2012 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles.
|
11528394 |
2001 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles.
|
11528394 |
2001 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles.
|
11528394 |
2001 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia has recently been associated with mutations in the epsilon-sarcoglycan gene (SCGE) on 7q21.
|
12391355 |
2002 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families.
|
12402271 |
2002 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families.
|
12402271 |
2002 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia syndrome (MDS) is a disorder for which the major cause appears to be mutations in the epsilon-sarcoglycan gene (SGCE).
|
12874409 |
2003 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
|
15079037 |
2004 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
|
16227522 |
2006 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
|
16227522 |
2006 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
|
16240355 |
2005 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D, DYT11) is a dystonia plus syndrome characterized by brief myoclonic jerks predominantly of neck and upper limbs in combination with focal or segmental dystonia.
|
17898012 |
2007 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (DYT11).
|
18265016 |
2008 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
|
18362280 |
2008 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21.
|
18852357 |
2008 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D) is characterized by early-onset myoclonus and dystonia, and is often due to mutations in the epsilon-sarcoglycan gene (SCGE) at locus 7q21.
|
19133653 |
2009 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D) is caused by heterozygous mutations of the epsilon-sarcoglycan gene (SGCE).
|
20590807 |
2010 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3.
|
23237735 |
2013 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia with a proven SGCE mutation.
|
24638021 |
2014 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D) is a very rare movement disorder, caused in ∼30-50% of cases by mutations in SGCE.
|
26157024 |
2015 |