(Q24290296)

2

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K Ueda

3

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T Akagi

4

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K Shoda

5

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T Usui

6

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T Hashikawa

7

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H Osada

8

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A V Delgado-Escueta

9

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K Yamakawa

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

10

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language of work or name

English

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publication date

22 September 2000

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published in

Human Molecular Genetics

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volume

9

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issue

15

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page(s)

2251-61

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Amino acid sequences common to rapidly degraded proteins: the PEST hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Kinetic analysis of the catalytic domain of human cdc25B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

The QM protein associates with ribosomes in the rough endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Assembly of the QM protein onto the 60S ribosomal subunit occurs in the cytoplasm

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Identification of an additional member of the protein-tyrosine-phosphatase family: evidence for alternative splicing in the tyrosine phosphatase domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Association of SET domain and myotubularin-related proteins modulates growth control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Heterologous complementation reveals that mutant alleles of QSR1 render 60S ribosomal subunits unstable and translationally inactive

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Fatty acylation of proteins: new insights into membrane targeting of myristoylated and palmitoylated proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Getting the message from the gene to the synapse: sorting and intracellular transport of RNA in neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Ultrastructural basis for gene expression at the synapse: synapse-associated polyribosome complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Metabotropic glutamate receptor-initiated translocation of protein kinase p90rsk to polyribosomes: a possible factor regulating synaptic protein synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Synaptic tagging and long-term potentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Translational control in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

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/10.1093%2FOXFORDJOURNALS.HMG.A018916

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Aggresomes: a cellular response to misfolded proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Dynamic association of proteasomal machinery with the centrosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

New vectors for high level expression of recombinant proteins in bacteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Expressed cerebellar-type inositol 1,4,5-trisphosphate receptor, P400, has calcium release activity in a fibroblast L cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

Characterization of human and murine PMP20 peroxisomal proteins that exhibit antioxidant activity in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

PTP-PEST: a protein tyrosine phosphatase regulated by serine phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

7 January 2021

Separation of multiple phosphorylated forms of 40 S ribosomal protein S6 by two-dimensional polyacrylamide gel electrophoresis

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

7 January 2021

Extending the capabilities of interphase chromatin mapping

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

7 January 2021

Protein-synthetic machinery at postsynaptic sites during synaptogenesis: a quantitative study of the association between polyribosomes and developing synapses

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

7 January 2021

STEP61: a member of a family of brain-enriched PTPs is localized to the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1093%2FOXFORDJOURNALS.HMG.A018916

7 January 2021