(Q46602122)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16021330%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16021330%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

2

1 reference

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31 December 2019

Shinichi Hirose

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16021330%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Kazuhiro Yamakawa

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16021330%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Shweta Singh

1

1 reference

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31 December 2019

Akira Uchiyama

3

1 reference

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31 December 2019

Satoko Kumada

4

1 reference

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31 December 2019

Nobuko Moriyama

5

1 reference

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31 December 2019

Yukitoshi Takahashi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16021330%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Hideo Sugie

8

1 reference

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31 December 2019

Koichi Mizoguchi

9

1 reference

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31 December 2019

Yushi Inoue

10

1 reference

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31 December 2019

Kazue Kimura

11

1 reference

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31 December 2019

Yukio Sawaishi

12

1 reference

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31 December 2019

Subramaniam Ganesh

14

1 reference

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31 December 2019

publication date

15 July 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16021330%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

31 December 2019

published in

1 reference

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31 December 2019

volume

50

1 reference

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31 December 2019

issue

7

1 reference

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31 December 2019

page(s)

347-352

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16021330%20AND%20SRC:MED&resulttype=core&format=json

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

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10038-005-0263-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-005-0263-7

Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-005-0263-7

Identification of new and common mutations in the EPM2A gene in Lafora disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-005-0263-7

Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-005-0263-7

Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene

21 January 2018

1 reference

12 December 2020

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

1 reference

12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

12 December 2020

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

1 reference

12 December 2020

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in NHLRC1 cause progressive myoclonus epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

1 reference

12 December 2020

SIFT: Predicting amino acid changes that affect protein function

1 reference

12 December 2020

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

1 reference

12 December 2020

Advances in the genetics of progressive myoclonus epilepsy

1 reference

12 December 2020

A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

1 reference

12 December 2020

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus

1 reference

12 December 2020

Unusual presentation of Lafora's disease

1 reference

12 December 2020

Glucose metabolism evaluated by positron emission tomography in Lafora disease

1 reference

12 December 2020

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

1 reference

12 December 2020

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

1 reference

12 December 2020

Biochemical studies on tissues from a patient with lafora disease

1 reference

12 December 2020

Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy

1 reference

12 December 2020