(Q40807298)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

review article

1 reference

title

Searching for human epilepsy genes: a progress report (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

9

1 reference

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28 October 2019

author name string

Leppert M

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

McMahon WM

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Quattlebaum TG

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Bjerre I

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Zonana J

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Shevell MI

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Andermann E

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Rosales TO

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Connolly M

10

1 reference

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28 October 2019

publication date

1 October 1993

1 reference

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28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

357-369

1 reference

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28 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

A polymorphic DNA marker genetically linked to Huntington's disease

28 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

The genetic defect causing familial Alzheimer's disease maps on chromosome 21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Prader-Willi syndrome: current understanding of cause and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Epilepsy in Angelman syndrome associated with chromosome 15q deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

GABAergic mechanisms in the pathogenesis and treatment of epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Cloning of a novel glutamate receptor subunit, GluR5: expression in the nervous system during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Classification of progressive myoclonus epilepsies and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00764.X

10.1111/J.1750-3639.1993.TB00764.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8293192%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference