(Q30502588)

19 October 2017

Spinocerebellar ataxia: patient and health professional perspectives on whether and how patents affect access to clinical genetic testing (English)

1 reference

19 October 2017

0 references

0 references

1 reference

spinocerebellar ataxia

1 reference

3

1 reference

PubMed publication ID

22 June 2017

Ashton Powell

1

1 reference

19 October 2017

Subhashini Chandrasekharan

series ordinal

2

1 reference

19 October 2017

language of work or name

English

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publication date

1 April 2010

1 reference

19 October 2017

1 reference

19 October 2017

12

1 reference

19 October 2017

4 Suppl

1 reference

19 October 2017

S83-S110

1 reference

Utilization and diagnostic yield of neurogenetic testing at a tertiary care facility

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Scale for the assessment and rating of ataxia: development of a new clinical scale

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

The pathogenesis of spinocerebellar ataxia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

The wide spectrum of spinocerebellar ataxias (SCAs)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Problems and possibilities in the differential diagnosis of Syndrome Spinocerebellar Ataxia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Pathways to motor incoordination: the inherited ataxias

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Effects of patents and licenses on the provision of clinical genetic testing services

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Cerebellar ataxia and gluten sensitivity: a rare but possible cause of ataxia, even in childhood

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

The olivopontocerebellar atrophies: a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3138714

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

20 June 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D67E44

Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D67E44

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D67E44

Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D67E44

Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D67E44

Survey confirms fears about licensing of genetic tests

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D67E44

A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20393313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The sword of Damocles: the psychosocial impact of familial spinocerebellar ataxia in South Africa

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20393313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20393313

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/GIM.0B013E3181D67E44

1 reference

Dimensions Publication ID

19 October 2017

0 references

1 reference

19 October 2017

PubMed publication ID

20393313

1 reference