(Q36930029)

17 August 2017

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes (English)

1 reference

17 August 2017

21

A Brice

0 references

Alexandra Durr

16

object named as

A Durr

1 reference

17 August 2017

11

L Guyant-Maréchal

1 reference

17 August 2017

French Dystonia Network

22

object named as

French Dystonia Network

1 reference

17 August 2017

17

F Durif

1 reference

17 August 2017

14

S Thobois

1 reference

Sophie Tezenas du Montcel

17 August 2017

1

object named as

S Tezenas du Montcel

1 reference

17 August 2017

F Clot

2

1 reference

17 August 2017

M Vidailhet

3

1 reference

17 August 2017

E Roze

4

1 reference

17 August 2017

P Damier

5

1 reference

17 August 2017

C P Jedynak

6

1 reference

17 August 2017

A Camuzat

7

1 reference

17 August 2017

A Lagueny

8

1 reference

17 August 2017

L Vercueil

9

1 reference

17 August 2017

D Doummar

10

1 reference

17 August 2017

J-L Houeto

12

1 reference

17 August 2017

G Ponsot

13

1 reference

17 August 2017

M-A Cournelle

15

1 reference

17 August 2017

B Echenne

18

1 reference

17 August 2017

D Hannequin

19

1 reference

17 August 2017

C Tranchant

20

1 reference

17 August 2017

language of work or name

English

0 references

publication date

14 October 2005

1 reference

Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

43

1 reference

17 August 2017

5

1 reference

17 August 2017

394-400

1 reference

The epsilon-sarcoglycan gene in myoclonic syndromes

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Myoclonus: current concepts and recent advances.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Genetic heterogeneity in ten families with myoclonus-dystonia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Hereditary myoclonus-dystonia associated with epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Essential myoclonus and myoclonic dystonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Glycoprotein complex anchoring dystrophin to sarcolemma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Clinical and genetic heterogeneity in benign hereditary chorea

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564513

Late-onset axial jerky dystonia due to the DYT1 deletion

4 September 2018

1 reference

12 December 2020

Clinical findings of a myoclonus-dystonia family with two distinct mutations

1 reference

12 December 2020

A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome

1 reference

12 December 2020

Unusual phenotypic expression of the DYT1 mutation

1 reference

12 December 2020

Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families

1 reference

12 December 2020

Inherited myoclonus-dystonia

1 reference

12 December 2020

Tremor and idiopathic dystonia

1 reference

12 December 2020

Classification of dystonia

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.036780

1 reference

17 August 2017

1 reference

17 August 2017

1 reference