(Q36907337)

17 August 2017

Clinical features of Friedreich ataxia (English)

1 reference

17 August 2017

1 reference

1

Martin B Delatycki

1 reference

17 August 2017

Louise A Corben

2

1 reference

17 August 2017

29 June 2012

1 reference

Journal of Child Neurology

17 August 2017

1 reference

17 August 2017

27

1 reference

17 August 2017

9

1 reference

17 August 2017

1133-1137

1 reference

Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Impaired inhibition of prepotent motor tendencies in Friedreich ataxia demonstrated by the Simon interference task.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Ocular motor fixation deficits in Friedreich ataxia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Friedreich ataxia: the clinical picture

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Visual system involvement in patients with Friedreich's ataxia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Friedreich's ataxia and scoliosis: the experience at two institutions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Friedreich ataxia: an overview

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Marked variation in the cardiomyopathy associated with Friedreich's ataxia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Clinical and genetic abnormalities in patients with Friedreich's ataxia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

The mental status of patients with Friedreich's ataxia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

The Fitts task reveals impairments in planning and online control of movement in Friedreich ataxia: reduced cerebellar-cortico connectivity?

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Mortality in Friedreich ataxia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

The test of everyday attention reveals significant sustained volitional attention and working memory deficits in friedreich ataxia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Dysarthria in Friedreich's ataxia: a perceptual analysis

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Auditory perception in individuals with Friedreich's ataxia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Disruption to higher order processes in Friedreich ataxia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Speech perception ability in individuals with Friedreich ataxia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Surgery for equinovarus deformity in Friedreich's ataxia improves mobility and independence.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

G130V, a common FRDA point mutation, appears to have arisen from a common founder

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Clinical and genetic study of Friedreich ataxia in an Australian population.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674491

Ueber degenerative Atrophie der spinalen Hinterstränge

4 September 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812448230

Ueber degenerative Atrophie der spinalen Hinterstränge

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812448230

Ueber degenerative Atrophie der spinalen Hinterstränge

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812448230

Ueber Ataxie mit besonderer Berücksichtigung der hereditären Formen

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812448230

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812448230

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812448230

Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change

21 January 2018

1 reference

12 December 2020

Utilisation of Advance Motor Information is Impaired in Friedreich Ataxia

1 reference

12 December 2020

Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia

1 reference

12 December 2020

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

1 reference

12 December 2020

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

12 December 2020

Natural history of scoliosis in Friedreich's ataxia

1 reference

12 December 2020

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

12 December 2020

Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

1 reference

12 December 2020

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia

1 reference

12 December 2020

Identifiers

DOI

10.1177/0883073812448230

1 reference

17 August 2017

1 reference

PMC publication ID

3674491

17 August 2017

PubMed publication ID

22752493

1 reference

PMC publication ID

3674491