(Q34017573)

30 July 2017

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus (English)

1 reference

30 July 2017

Mervyn G Thomas

1

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David G. Hunter

object named as

David G Hunter

13

0 references

Irene Gottlob

19

object named as

Irene Gottlob

1 reference

30 July 2017

15

Patrick Tarpey

1 reference

30 July 2017

8

Rebecca J McLean

1 reference

30 July 2017

9

Mylvaganam Surendran

1 reference

30 July 2017

2

Moira Crosier

1 reference

30 July 2017

Susan Lindsay

3

1 reference

30 July 2017

Anil Kumar

4

1 reference

30 July 2017

Shery Thomas

5

1 reference

30 July 2017

Masasuke Araki

6

1 reference

30 July 2017

Chris J Talbot

7

1 reference

30 July 2017

Katie Taylor

10

1 reference

30 July 2017

Bart P Leroy

11

1 reference

30 July 2017

Anthony T Moore

12

1 reference

30 July 2017

Richard W Hertle

14

1 reference

30 July 2017

Andrea Langmann

16

1 reference

30 July 2017

Susanne Lindner

17

1 reference

30 July 2017

Martina Brandner

18

1 reference

30 July 2017

language of work or name

English

0 references

publication date

8 February 2011

1 reference

30 July 2017

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30 July 2017

134

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30 July 2017

Pt 3

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30 July 2017

892-902

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The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

The prevalence of nystagmus: the Leicestershire nystagmus survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

FARP1 promotes the dendritic growth of spinal motor neuron subtypes through transmembrane Semaphorin6A and PlexinA4 signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Baclofen for patients with congenital periodic alternating nystagmus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

What can acquired nystagmus tell us about congenital forms of nystagmus?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

FARP2 triggers signals for Sema3A-mediated axonal repulsion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Characterization and prediction of alternative splice sites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Social and visual function in nystagmus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

MRC-Wellcome Trust Human Developmental Biology Resource: enabling studies of human developmental gene expression.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Coot: model-building tools for molecular graphics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Motor and sensory characteristics of infantile nystagmus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Costenbader Lecture. Idiopathic infantile nystagmus: diagnosis and treatment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Study of congenital nystagmus: optokinetic nystagmus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Dynamic modification of the vestibulo-ocular reflex by the nodulus and uvula.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Periodic alternating nystagmus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Oculomotor instabilities in zebrafish mutant belladonna: a behavioral model for congenital nystagmus caused by axonal misrouting.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

X-linked infantile periodic alternating nystagmus.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Time-varying, slow-phase component interaction in congenital nystagmus

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Congenital periodic alternating nystagmus: response to baclofen

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Sensitive nonradioactive detection of mRNA in tissue sections: novel application of the whole-mount in situ hybridization protocol

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Vestibulo-ocular and optokinetic deficits in albinos with congenital nystagmus.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Vestibular function in periodic alternating nystagmus.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125620

Infantile aperiodic alternating nystagmus

29 October 2018

1 reference

12 December 2020

Periodic alternating nystagmus in a patient with MS

1 reference

12 December 2020

Optokinetic Eye Movements in Albino Rabbits: Inversion in Anterior Visual Field

1 reference

12 December 2020

Treatment of periodic alternating nystagmus

1 reference

12 December 2020

A hypothetical explanation for periodic alternating nystagmus: instability in the optokinetic-vestibular system

1 reference

12 December 2020

Periodic alternating nystagmus in humans with albinism

1 reference

12 December 2020

Congenital periodic alternating nystagmus. Diagnosis and Management

1 reference

12 December 2020

Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus

1 reference

12 December 2020

The incidence and waveform characteristics of periodic alternating nystagmus in congenital nystagmus

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWQ373

1 reference

30 July 2017

1 reference

30 July 2017

1 reference