(Q44212961)

30 November 2017

title

Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate (English)

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progressive myoclonus epilepsy

30 November 2017

main subject

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Julie Turnbull

1

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30 November 2017

Santosh Kumar

2

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30 November 2017

Zhi-Ping Ren

3

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Shanmugakonar Muralitharan

4

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Taline Naranian

5

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30 November 2017

Cameron A Ackerley

6

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Berge A Minassian

7

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30 November 2017

publication date

1 February 2008

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Journal of Child Neurology

30 November 2017

published in

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30 November 2017

volume

23

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30 November 2017

issue

2

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30 November 2017

page(s)

240-242

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Beitrag zur Histopathologie der myoklonischen Epilepsie

30 November 2017

cites work

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https://api.crossref.org/works/10.1177%2F0883073807309245

Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807309245

Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807309245

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807309245

Mutations in NHLRC1 cause progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807309245

Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807309245

Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807309245

Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807309245

Lafora disease due to EPM2B mutations: a clinical and genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807309245

Short Report: A study of consanguinity in the Sultanate of Oman

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807309245

21 January 2018

Identifiers

DOI

10.1177/0883073807309245

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30 November 2017

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