Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia (Q77365108)

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5 December 2019

title

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia (English)

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5 December 2019

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2

B Keats

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5 December 2019

author name string

D O McDaniel

series ordinal

1

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5 December 2019

V V Vedanarayanan

series ordinal

3

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5 December 2019

S H Subramony

series ordinal

4

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5 December 2019

publication date

1 November 2001

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5 December 2019

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5 December 2019

volume

16

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5 December 2019

issue

6

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5 December 2019

page(s)

1153-1158

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Geriatrics: gait disorders in the elderly

5 December 2019

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

1 reference

Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

21 January 2018

1 reference

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

21 January 2018

1 reference

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

21 January 2018

1 reference

A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

"Idiopathic" late onset cerebellar ataxia. A clinical and genetic study of 36 cases

21 January 2018

1 reference

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.1210

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5 December 2019

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