Mutations in NHLRC1 cause progressive myoclonus epilepsy (Q34228381)

31 July 2017

Mutations in NHLRC1 cause progressive myoclonus epilepsy (English)

1 reference

Antonio V Delgado-Escueta

31 July 2017

13

Guy A Rouleau

0 references

object named as

Antonio V Delgado-Escueta

14

0 references

Maurizio Elia

object named as

Maurizio Elia

8

0 references

Stephen W. Scherer

16

object named as

Stephen W Scherer

1 reference

31 July 2017

Elayne M Chan

1

1 reference

31 July 2017

Edwin J Young

2

1 reference

31 July 2017

Leonarda Ianzano

3

1 reference

31 July 2017

Iulia Munteanu

4

1 reference

31 July 2017

Xiaochu Zhao

5

1 reference

31 July 2017

Constantine C Christopoulos

6

1 reference

31 July 2017

Giuliano Avanzini

7

1 reference

31 July 2017

Cameron A Ackerley

9

1 reference

31 July 2017

Nebojsa J Jovic

10

1 reference

31 July 2017

Saeed Bohlega

11

1 reference

31 July 2017

Eva Andermann

12

1 reference

31 July 2017

Berge A Minassian

15

1 reference

31 July 2017

language of work or name

English

0 references

publication date

7 September 2003

1 reference

31 July 2017

1 reference

31 July 2017

35

1 reference

31 July 2017

2

1 reference

31 July 2017

125-127

1 reference

https://scigraph.springernature.com/pub.10.1038/ng1238

31 July 2017

0 references

cites work

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

1 reference

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

21 January 2018

1 reference

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

21 January 2018

1 reference

21 January 2018

RING for destruction?

1 reference

U-box proteins as a new family of ubiquitin ligases

21 January 2018

1 reference

A novel repeat domain that is often associated with RING finger and B-box motifs.

21 January 2018

1 reference

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

21 January 2018

1 reference

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase

21 January 2018

1 reference

Alternative splicing modulates subcellular localization of laforin

21 January 2018

1 reference

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

21 January 2018

1 reference

Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product

21 January 2018

1 reference

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

21 January 2018

1 reference

Beitrag zur Histopathologie der myoklonischen Epilepsie

21 January 2018

1 reference

Corpora-amylacea and the family of polyglucosan diseases

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1238

1 reference

31 July 2017

1 reference