Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. (Q46938722)

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9 January 2020

title

Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy (English)

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Mar García-Rocha

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Santiago Rodriguez de Córdoba

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David Vilchez

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Susana Ros

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Lluís Pujadas

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Belén García-Fojeda

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Maria Elena Fernandez Sanchez

9 January 2020

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Iria Medraño-Fernández

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author name string

Jordi Vallès

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Olga Criado-García

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Jorge Domínguez

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Eduardo Soriano

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Joan J Guinovart

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language of work or name

English

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publication date

21 October 2007

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9 January 2020

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volume

10

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issue

11

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9 January 2020

page(s)

1407-1413

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https://scigraph.springernature.com/pub.10.1038/nn1998

9 January 2020

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cites work

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

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

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7 January 2021

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen

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Mutations in NHLRC1 cause progressive myoclonus epilepsy

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