(Q27329788)

31

0 references

Gerton Lunter

21

0 references

Gilean McVean

27

0 references

Stefano Lise

Stefano Lise

1

0 references

Alexander Kanapin

Alexander Kanapin

19

0 references

Andrea H Németh

Andrea H Németh

32

0 references

Peter Donnelly

28

Peter Donnelly

0 references

Jean-Baptiste Cazier

Jean-Baptiste Cazier

23

1 reference

ORCID Public Data File 2021

author name string

Yvonne Clarkson

2

0 references

Emma Perkins

3

0 references

Alexandra Kwasniewska

4

0 references

Elham Sadighi Akha

5

0 references

Ricardo Parolin Schnekenberg

6

0 references

Daumante Suminaite

7

0 references

Jilly Hope

8

0 references

Ian Baker

9

0 references

Lorna Gregory

10

0 references

Angie Green

11

0 references

Chris Allan

12

0 references

Sarah Lamble

13

0 references

Sandeep Jayawant

14

0 references

Gerardine Quaghebeur

15

0 references

M Zameel Cader

16

0 references

Sarah Hughes

17

0 references

Richard J E Armstrong

18

0 references

Andrew Rimmer

20

0 references

Iain Mathieson

22

0 references

David Buck

24

0 references

Jenny C Taylor

25

0 references

David Bentley

26

0 references

Samantha J L Knight

29

0 references

Mandy Jackson

Creative Commons Attribution 4.0 International

30

0 references

language of work or name

English

0 references

publication date

2012

0 references

published in

PLOS Genetics

0 references

volume

8

0 references

page(s)

e1003074

0 references

issue

12

0 references

copyright license

start time

6 December 2012

1 reference

April 2022 Public Data File from Crossref

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Fast and accurate short read alignment with Burrows-Wheeler transform

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

AnkyrinG is required for clustering of voltage-gated Na channels at axon initial segments and for normal action potential firing

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

A method and server for predicting damaging missense mutations

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

BEDTools: a flexible suite of utilities for comparing genomic features

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Distribution and intensity of constraint in mammalian genomic sequence

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Cell organization, growth, and neural and cardiac development require αII-spectrin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Dindel: accurate indel calls from short-read data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

The spectrin-ankyrin-4.1-adducin membrane skeleton: adapting eukaryotic cells to the demands of animal life

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

mGluR5 regulates glutamate-dependent development of the mouse somatosensory cortex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

28 September 2017

Hereditary spherocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Molecular epitopes of the ankyrin-spectrin interaction.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Spectrin mutations cause spinocerebellar ataxia type 5.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Close interrelation of motor development and cognitive development and of the cerebellum and prefrontal cortex.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Brain spectrin: of mice and men.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Distinct contributions of the hippocampus and medial prefrontal cortex to the "what-where-when" components of episodic-like memory in mice

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

Should spinocerebellar ataxia type 5 be called Lincoln ataxia?

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516553

2 June 2018

Sca5 or lincoln ataxia?

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003074

Abraham lincoln may have had sca type 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003074

Recognition memory for objects, place, and temporal order: a disconnection analysis of the role of the medial prefrontal cortex and perirhinal cortex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003074

When is the hippocampus involved in recognition memory?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003074

Cerebellar contributions to cognition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003074

Clinical and MRI findings in spinocerebellar ataxia type 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003074