(Q44792027)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

progressive myoclonus epilepsy

25 December 2019

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Rita Barone

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Elvira Valeria De Marco

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Donatella Civitelli

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Aldo Quattrone

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1

Grazia Annesi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

11

Patrizia Tarantino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

13

Mario Zappia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

10

Sara Carrideo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Vito Sofia

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Innocenza C Cirò Candiano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Patrizia Spadafora

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Ferdinanda Annesi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Nunzio Cutuli

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

1 March 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

294-295

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15009235%20AND%20SRC:MED&resulttype=core&format=json

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

25 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.33203.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.33203.X

Mutations in NHLRC1 cause progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.33203.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0013-9580.2004.33203.X