(Q38121948)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859346%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

Clinical features of Friedreich's ataxia: classical and atypical phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859346%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

Michael H Parkinson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859346%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Sylvia Boesch

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859346%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Wolfgang Nachbauer

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859346%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

language of work or name

English

0 references

publication date

1 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859346%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurochemistry

5 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859346%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

volume

126 Suppl 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859346%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

page(s)

103-117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23859346%20AND%20SRC:MED&resulttype=core&format=json

Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings

5 March 2020

cites work

1 reference

Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms.

21 January 2018

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Exonic deletions of FXN and early-onset Friedreich ataxia

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

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Friedreich's Ataxia: a review from a cardiology perspective

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Novel diagnostic paradigms for Friedreich ataxia

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Comparison of three clinical rating scales in Friedreich ataxia (FRDA).

21 January 2018

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

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Olfactory dysfunction in degenerative ataxias

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Why do some Friedreich's ataxia patients retain tendon reflexes?

21 January 2018

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Towards an understanding of cognitive function in Friedreich ataxia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Reviewing the genetic causes of spastic-ataxias

21 January 2018

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Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus

21 January 2018

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

21 January 2018

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Differential impairment in semantic, phonemic, and action fluency performance in Friedreich's ataxia: possible evidence of prefrontal dysfunction

21 January 2018

1 reference

Clinical features of Friedreich ataxia

21 January 2018

1 reference

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

21 January 2018

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Brain structural damage in Friedreich's ataxia.

21 January 2018

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A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

21 January 2018

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

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21 January 2018

1 reference

How is disease progress in Friedreich's ataxia best measured? A study of four rating scales.

21 January 2018

1 reference

Glucose intolerance in first-degree relatives of patients with Friedreich's ataxia is associated with insulin resistance: Evidence for a closely linked inherited trait

21 January 2018

1 reference

Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients

21 January 2018

1 reference

Glucose metabolism alterations in Friedreich's ataxia

21 January 2018

1 reference

Dysarthria in Friedreich's ataxia: a perceptual analysis.

21 January 2018

1 reference

Visual system involvement in patients with Friedreich's ataxia

21 January 2018

1 reference

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design

21 January 2018

1 reference

Frataxin gene point mutations in Italian Friedreich ataxia patients

21 January 2018

1 reference

Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans.

21 January 2018

1 reference

Early abnormalities of brainstem auditory evoked potentials in Friedreich's ataxia: evidence of primary brainstem dysfunction.

21 January 2018

1 reference

The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood

21 January 2018

1 reference

Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging.

21 January 2018

1 reference

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

21 January 2018

1 reference

Friedreich's ataxia: pathology, pathogenesis, and molecular genetics

21 January 2018

1 reference

Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

21 January 2018

1 reference

Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates

21 January 2018

1 reference

Auditory neuropathy in Friedreich ataxia A report of two cases

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

21 January 2018

1 reference

Cognition in Friedreich ataxia.

21 January 2018

1 reference

Molecular basis of Friedreich ataxia

21 January 2018

1 reference

Friedreich ataxia: the clinical picture

21 January 2018

1 reference

Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.

21 January 2018

1 reference

Speech perception ability in individuals with Friedreich ataxia.

21 January 2018

1 reference

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

21 January 2018

1 reference

Binaural speech processing in individuals with auditory neuropathy.

21 January 2018

1 reference

Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants

21 January 2018

1 reference

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

21 January 2018

1 reference

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

21 January 2018

1 reference

Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia

21 January 2018

1 reference

Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration.

21 January 2018

1 reference

Cross-sectional analysis of electrocardiograms in a large heterogeneous cohort of Friedreich ataxia subjects

21 January 2018

1 reference

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.

21 January 2018

1 reference

Diagnosis and treatment of Friedreich ataxia: a European perspective

21 January 2018

1 reference

Diabetes Mellitus in Friedreich's Ataxia

21 January 2018

1 reference

Mortality in Friedreich ataxia

21 January 2018

1 reference

The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms.

21 January 2018

1 reference

Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers

21 January 2018

1 reference

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

21 January 2018

1 reference

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

21 January 2018

1 reference