SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? (Q34694722)

4 August 2017

SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? (English)

1 reference

4 August 2017

1 reference

7

1 reference

4 August 2017

Barbera D.C. van Schaik

object named as

Barbera Dc van Schaik

2

0 references

Eleonora Aronica

5

object named as

Eleonora Aronica

1 reference

4 August 2017

6

Marina A Tijssen

1 reference

4 August 2017

Katja Ritz

1

1 reference

4 August 2017

Marja E Jakobs

3

1 reference

4 August 2017

Antoine H van Kampen

4

1 reference

4 August 2017

15 December 2010

1 reference

European Journal of Human Genetics

4 August 2017

1 reference

4 August 2017

19

1 reference

4 August 2017

4

1 reference

4 August 2017

438-444

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.206

4 August 2017

0 references

cites work

Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Amplification efficiency: linking baseline and bias in the analysis of quantitative PCR data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

The neurobiology of the dystrophin-associated glycoprotein complex.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Alternative isoform regulation in human tissue transcriptomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

The basal ganglia and cerebellum interact in the expression of dystonic movement

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

The pathophysiological basis of dystonias.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Myoclonus-dystonia: significance of large SGCE deletions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Molecular and cell biology of the sarcoglycan complex

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Identification and characterization of epsilon-sarcoglycans in the central nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

A novel locus for inherited myoclonus-dystonia on 18p11.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Abnormal cerebellar signaling induces dystonia in mice.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Release of dopamine in both caudate nuclei and both substantia nigrae in response to unilateral stimulation of cerebellar nuclei in the cat

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

Genome-wide analysis of transcript isoform variation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

Functional MRI reveals activation of a subcortical network in a 5-year-old girl with genetically confirmed myoclonus-dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

Reduced striatal D2 receptor binding in myoclonus-dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

The cerebellum communicates with the basal ganglia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

Essential tremor associated with pathologic changes in the cerebellum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060322

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort

26 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.206

Effects of acute alcohol intoxication on cerebral blood flow measured with PET

21 January 2018

1 reference

12 December 2020

Homolateral disappearance of essential tremor after cerebellar stroke

1 reference

12 December 2020

[Cerebellar cavernous angioma, cervical dystonia and crossed cortical diaschisis]

1 reference

12 December 2020

Refinement of the DYT15 locus in myoclonus dystonia

1 reference

12 December 2020

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.206

1 reference

4 August 2017

1 reference

4 August 2017

1 reference