(Q34747231)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

Typical progression of myoclonic epilepsy of the Lafora type: a case report (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

2

1 reference

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2 January 2020

Gaetano De Rosa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

Marialaura Del Basso De Caro

2 January 2020

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

Pasquale Striano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Julie Turnbull

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Jean-Marie Girard

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Cameron A Ackerley

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Mariarosaria Cervasio

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Salvatore Striano

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Berge A Minassian

10

1 reference

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2 January 2020

publication date

1 February 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

Nature Clinical Practice Neurology

2 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

volume

4

1 reference

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2 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

page(s)

106-111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18256682%20AND%20SRC:MED&resulttype=core&format=json

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

2 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

Beitrag zur Histopathologie der myoklonischen Epilepsie

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG–EMG relationship estimated using autoregressive models

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Corpora-amylacea and the family of polyglucosan diseases

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Mutations in NHLRC1 cause progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Glycogen and its Metabolism

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Relationship between glycogen accumulation and the laforin dual specificity phosphatase

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021

Advances in lafora progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0706

7 January 2021