(Q24648625)

22 June 2017

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). (English)

1 reference

22 June 2017

Edward J Novotny

15

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author name string

Lisa J Strug

1

1 reference

22 June 2017

Tara Clarke

2

1 reference

22 June 2017

Theodore Chiang

3

1 reference

22 June 2017

Minchen Chien

4

1 reference

22 June 2017

Zeynep Baskurt

5

1 reference

22 June 2017

Weili Li

6

1 reference

22 June 2017

Ruslan Dorfman

7

1 reference

22 June 2017

Bhavna Bali

8

1 reference

22 June 2017

Elaine Wirrell

9

1 reference

22 June 2017

Steven L Kugler

10

1 reference

22 June 2017

David E Mandelbaum

11

1 reference

22 June 2017

Steven M Wolf

12

1 reference

22 June 2017

Patricia McGoldrick

13

1 reference

22 June 2017

Huntley Hardison

14

1 reference

22 June 2017

Jingyue Ju

16

1 reference

22 June 2017

David A Greenberg

17

1 reference

22 June 2017

James J Russo

18

1 reference

22 June 2017

Deb K Pal

19

1 reference

22 June 2017

language of work or name

English

0 references

publication date

28 January 2009

1 reference

European Journal of Human Genetics

22 June 2017

1 reference

22 June 2017

17

1 reference

22 June 2017

9

1 reference

22 June 2017

1171-1181

1 reference

Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families

22 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Familial dysautonomia is caused by mutations of the IKAP gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Haploview: analysis and visualization of LD and haplotype maps

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Characterization of a six-subunit holo-elongator complex required for the regulated expression of a group of genes in Saccharomyces cerevisiae

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Parametric and nonparametric linkage analysis: a unified multipoint approach

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

A high-resolution recombination map of the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Attention impairment in rolandic epilepsy: systematic review

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

High risk of reading disability and speech sound disorder in rolandic epilepsy families: case-control study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Is Rolandic epilepsy associated with abnormal findings on cranial MRI?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Elongator complex: how many roles does it play?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

An alternative foundation for the planning and evaluation of linkage analysis. II. Implications for multiple test adjustments

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

An alternative foundation for the planning and evaluation of linkage analysis. I. Decoupling "error probabilities" from "measures of evidence".

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

SRPX2 mutations in disorders of language cortex and cognition

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Use of unphased multilocus genotype data in indirect association studies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Likelihood methods for measuring statistical evidence

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Magnitude of type I error when single-locus linkage analysis is maximized over models: a simulation study.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Benign Epilepsy of Children with Rolandic (Centro-temporal) Paroxysmal Foci A Clinical Entity. Study of 221 Cases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Children with benign focal sharp waves in the EEG--developmental disorders and epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Implementing a unified approach to family-based tests of association.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

The Development of the Electroencephalogram in Normal Children from the Age of 1 Through 15 Years – Paroxysmal activity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

The EEG in familial dysautonomia (Riley-Day syndrome).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Increased frequency of rolandic spikes in ADHD children

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.267

Comorbidity of DCD and SLI: Significance of epileptiform activity during sleep.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.267

Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.267

Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.267

An Introduction to Evidential Sample Size Calculations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.267

Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.267

Epileptic electroencephalographic abnormalities and developmental dysphasias: a study of 32 patients

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729813

Distribution of epilepsy syndromes in a cohort of children prospectively monitored from the time of their first unprovoked seizure

28 November 2018

1 reference

12 December 2020

Bias in multipoint linkage analysis arising from map misspecification

1 reference

12 December 2020

Effect of misspecification of gene frequency on the two-point LOD score

1 reference

12 December 2020

Quantification of type I error probabilities for heterogeneity LOD scores

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.267

1 reference

Dimensions Publication ID

22 June 2017

1004783126

0 references

OpenCitations bibliographic resource ID

1101086

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference