(Q44617476)

4 December 2017

title

Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome (English)

1 reference

4 December 2017

Large SGCE deletion contributes to Taiwanese myoclonus–dystonia syndrome (English)

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

3 July 2024

1 reference

Chia-Ling Huang

1

1 reference

4 December 2017

Min-Yu Lan

2

1 reference

4 December 2017

Yung-Yee Chang

3

1 reference

4 December 2017

Chia-Yu Hsu

4

1 reference

4 December 2017

Szu-Chia Lai

5

1 reference

4 December 2017

Rou-Shayn Chen

6

1 reference

4 December 2017

Hsiu-Chen Chang

7

1 reference

4 December 2017

Chin-Song Lu

8

1 reference

4 December 2017

Yah-Huei Wu-Chou

9

1 reference

4 December 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20800530

3 July 2024

publication date

30 August 2010

1 reference

full work available at URL

4 December 2017

number of pages

5

1 reference

based on heuristic

inferred from page(s)

https://api.elsevier.com/content/article/PII:S1353802010001781?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

https://api.elsevier.com/content/article/PII:S1353802010001781?httpAccept=text/plain

3 July 2024

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

Parkinsonism and Related Disorders

3 July 2024

published in

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4 December 2017

volume

16

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4 December 2017

issue

9

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4 December 2017

page(s)

585-589

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

4 December 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

Hereditary myoclonus-dystonia associated with epilepsy

3 July 2024

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https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations

3 July 2024

4

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia

3 July 2024

5

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

6

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

7

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

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https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

9

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

Myoclonus-dystonia: significance of large SGCE deletions

3 July 2024

10

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https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

Myoclonus-dystonia: an update

3 July 2024

11

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https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

12

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https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

13

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https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation.

3 July 2024

14

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https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

The epsilon-sarcoglycan gene in myoclonic syndromes

3 July 2024

15

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https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

16

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https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

17

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

18

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

Responsiveness to levodopa in epsilon-sarcoglycan deletions

3 July 2024

19

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

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

3 July 2024

20

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

Large deletions account for an increasing number of mutations in SGCE

3 July 2024

21

1 reference

https://api.crossref.org/works/10.1016/J.PARKRELDIS.2010.06.016

A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.

3 July 2024

22

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3 July 2024

Identifiers

1 reference

4 December 2017

1 reference