(Q35014864)

5 August 2017

Exome sequencing in undiagnosed inherited and sporadic ataxias (English)

1 reference

5 August 2017

Gerald Pfeffer

8

0 references

Helen Griffin

Helen Griffin

4

0 references

Rita Horvath

Rita Horvath

13

0 references

Angela Pyle

1

Angela Pyle

1 reference

5 August 2017

Mauro Santibanez-Korev

9

Mauro Santibanez-Koref

1 reference

5 August 2017

11

Patrick Yu-Wai-Man

1 reference

5 August 2017

14

Patrick F Chinnery

1 reference

5 August 2017

5

Jennifer Duff

1 reference

5 August 2017

2

Tania Smertenko

1 reference

5 August 2017

10

Gail Eglon

1 reference

5 August 2017

3

David Bargiela

1 reference

5 August 2017

Konstantinos Douroudis

7

Konstantinos Douroudis

1 reference

5 August 2017

12

Venkateswaran Ramesh

1 reference

5 August 2017

Marie Appleton

6

1 reference

5 August 2017

language of work or name

English

0 references

publication date

12 December 2014

1 reference

5 August 2017

1 reference

5 August 2017

138

1 reference

5 August 2017

Pt 2

1 reference

5 August 2017

276-283

1 reference

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Hereditary ataxias: overview

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Exome sequencing as a tool for Mendelian disease gene discovery

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Dindel: accurate indel calls from short-read data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Massively parallel sequencing of ataxia genes after array-based enrichment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4306819

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

8 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU348

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU348

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU348

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU348

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWU348

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWU348

1 reference

5 August 2017

1 reference

5 August 2017

1 reference