(Q50990564)

26 March 2018

title

Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. (English)

1 reference

26 March 2018

Kailash Phatechand Bhatia

1 reference

12

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26 March 2018

Giovanni Defazio

Giovanni Defazio

7

0 references

Cristoforo Comi

Cristoforo Comi

11

0 references

Enza Maria Valente

Enza Maria Valente

13

0 references

Massimiliano Copetti

Massimiliano Copetti

3

0 references

Mark J Edwards

Mark J Edwards

8

0 references

Miryam Carecchio

1

Miryam Carecchio

1 reference

26 March 2018

author name string

Monia Magliozzi

2

1 reference

26 March 2018

Alessandro Ferraris

4

1 reference

26 March 2018

Laura Bernardini

5

1 reference

26 March 2018

Monica Bonetti

6

1 reference

26 March 2018

Isabella Torrente

9

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26 March 2018

Fabio Pellegrini

10

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26 March 2018

language of work or name

English

0 references

publication date

15 May 2013

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26 March 2018

published in

Movement Disorders

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26 March 2018

volume

28

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26 March 2018

issue

6

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26 March 2018

page(s)

787-794

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26 March 2018

Myoclonus-dystonia: an update

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The epsilon-sarcoglycan gene in myoclonic syndromes

21 January 2018

1 reference

Myoclonus-dystonia: significance of large SGCE deletions

21 January 2018

1 reference

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

21 January 2018

1 reference

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

21 January 2018

1 reference

Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp

21 January 2018

1 reference

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia

21 January 2018

1 reference

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

21 January 2018

1 reference

Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach

21 January 2018

1 reference

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

21 January 2018

1 reference

Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.

21 January 2018

1 reference

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

21 January 2018

1 reference

Deletion mapping of split hand/split foot malformation with hearing impairment: a case report

21 January 2018

1 reference

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

21 January 2018

1 reference

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

21 January 2018

1 reference

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

21 January 2018

1 reference

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

21 January 2018

1 reference

Cognition and psychopathology in myoclonus-dystonia.

21 January 2018

1 reference

Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.25506

1 reference

26 March 2018

PubMed ID

23677909

1 reference

26 March 2018