(Q43999068)

English

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

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12019207%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12019207%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

cognitive deficit

1 reference

based on heuristic

inferred from title

progressive myoclonus epilepsy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Antonio V Delgado-Escueta

2

1 reference

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9 November 2019

Toshimitsu Suzuki

3

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9 November 2019

author name string

Subramaniam Ganesh

1

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9 November 2019

Silvana Francheschetti

4

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9 November 2019

Concetta Riggio

5

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9 November 2019

Giuiliano Avanzini

6

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9 November 2019

Adrian Rabinowicz

7

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9 November 2019

Saeed Bohlega

8

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9 November 2019

Julia Bailey

9

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9 November 2019

Maria E Alonso

10

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9 November 2019

Astrid Rasmussen

11

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9 November 2019

Alfredo E Thomson

12

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9 November 2019

Adriana Ochoa

13

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9 November 2019

Aurelio J Prado

14

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9 November 2019

Marco T Medina

15

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9 November 2019

Kazuhiro Yamakawa

16

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9 November 2019

language of work or name

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publication date

1 May 2002

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9 November 2019

Human Molecular Genetics

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9 November 2019

11

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9 November 2019

1263-1271

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9 November 2019

11

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9 November 2019

Identifiers

10.1093/HMG/11.11.1263

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9 November 2019

1 reference

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9 November 2019

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