The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics (Q38018008)

27 August 2017

title

The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics (English)

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27 August 2017

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Joshua Hersheson

1

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27 August 2017

Andrea Haworth

series ordinal

2

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27 August 2017

Henry Houlden

series ordinal

3

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27 August 2017

publication date

2 July 2012

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27 August 2017

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27 August 2017

volume

33

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27 August 2017

issue

9

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27 August 2017

page(s)

1324-1332

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Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

27 August 2017

cites work

1 reference

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Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

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Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Recommendations for locus-specific databases and their curation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Molecular pathogenesis of spinocerebellar ataxias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

21 January 2018

1 reference

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Call for participation in the neurogenetics consortium within the Human Variome Project.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Spectrin mutations cause spinocerebellar ataxia type 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Update on degenerative ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

21 January 2018

1 reference

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Targeted enrichment of genomic DNA regions for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Autosomal recessive cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

Performance of mutation pathogenicity prediction methods on missense variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

The case for locus-specific databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

inferred from DOI database lookup

7 January 2021

based on heuristic

Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

inferred from DOI database lookup

7 January 2021

based on heuristic

Screening of the SPTBN2 (SCA5) gene in German SCA patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22132

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22132

1 reference

27 August 2017

1 reference