(Q33738468)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

SGCE mutations cause psychiatric disorders: clinical and genetic characterization (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Mark Wardle

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Adrian Waite

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Jean-Pierre Lin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Alan Whone

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Thomas Warner

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Huw R Morris

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

18

Michael Samuel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

21

Patrick F Chinnery

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

19

Timothy Lynch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Kathryn J Peall

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Manju A Kurian

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Tammy Hedderly

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Martin Smith

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Hardev Pall

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Cathy White

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Andrew Lux

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Philip Jardine

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Narinder Bajaj

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Bryan Lynch

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Sean O'Riordan

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Mary D King

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Derek J Blake

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Michael J Owen

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Daniel J Smith

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

language of work or name

English

0 references

publication date

1 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

Pt 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

294-303

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.

28 July 2018

1 reference

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Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Obsessions and compulsions in the community: prevalence, interference, help-seeking, developmental stability, and co-occurring psychiatric conditions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

The neurobiology of the dystrophin-associated glycoprotein complex.

28 July 2018

1 reference

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Myoclonus-dystonia: significance of large SGCE deletions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

The epsilon-sarcoglycan gene in myoclonic syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Function and genetics of dystrophin and dystrophin-related proteins in muscle

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Social phobia in spasmodic torticollis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

The PHQ-9: validity of a brief depression severity measure

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

The Mini-International Neuropsychiatric Interview (M.I.N.I.): the development and validation of a structured diagnostic psychiatric interview for DSM-IV and ICD-10

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Higher prevalence of obsessive-compulsive symptoms in patients with blepharospasm than in patients with hemifacial spasm.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Functional MRI and the study of OCD: from symptom provocation to cognitive-behavioral probes of cortico-striatal systems and the amygdala

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Development of the Alcohol Use Disorders Identification Test (AUDIT): WHO Collaborative Project on Early Detection of Persons with Harmful Alcohol Consumption--II

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Lifetime and 12-month prevalence of DSM-III-R psychiatric disorders in the United States. Results from the National Comorbidity Survey

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

The Yale-Brown Obsessive Compulsive Scale. I. Development, use, and reliability

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

The Yale-Brown Obsessive Compulsive Scale. II. Validity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

The MOS 36-ltem Short-Form Health Survey (SF-36)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Obsessive and compulsive characteristics of craving for alcohol in alcohol abuse and dependence

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

A New Depression Scale Designed to be Sensitive to Change

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Obsessive-compulsive symptoms in primary focal dystonia: a controlled study.

28 July 2018

1 reference

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Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study.

30 October 2018

1 reference

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Pallidal and thalamic deep brain stimulation in myoclonus-dystonia.

30 October 2018

1 reference

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Psychiatric disorders in adult-onset focal dystonia: a case-control study.

30 October 2018

1 reference

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Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

"Jerky" dystonia in children: spectrum of phenotypes and genetic testing

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

High psychiatric comorbidity in spasmodic torticollis: a controlled study.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Phenotypic features of myoclonus-dystonia in three kindreds

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Obsessive compulsive disorder among idiopathic focal dystonia patients: an epidemiological and family study.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Inherited myoclonus-dystonia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Alexithymia and attachment representation in idiopathic spasmodic torticollis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Increased activation of frontal areas during arm movement in idiopathic torsion dystonia.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Neuropsychiatric disorders, myoclonus, and dystonia in calcification of basal ganglia pathways.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Alcohol dependence and the need to drink: a compulsion?

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4052887

Impaired saccadic adaptation in DYT11 dystonia

30 October 2018

1 reference

12 December 2020

The Unified Myoclonus Rating Scale

1 reference

12 December 2020

Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21

1 reference

12 December 2020

Validity and reliability of a rating scale for the primary torsion dystonias

1 reference

12 December 2020

Obsessive-compulsive disorder in a birth cohort of 18-year-olds: prevalence and predictors

1 reference

12 December 2020

Psychiatric comorbidity in patients with spasmodic torticollis

1 reference

12 December 2020

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

1 reference

12 December 2020

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

1 reference

12 December 2020

Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations

1 reference

12 December 2020

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ɛ-sarcoglycan mutations

1 reference

12 December 2020

A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome

1 reference

12 December 2020

Myoclonus-dystonia due to maternal uniparental disomy

1 reference

12 December 2020

Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity

1 reference

12 December 2020

Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia

1 reference

12 December 2020

Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWS308

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23365103%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference