(Q58184738)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9270667%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

GAA trinucleotide repeat expansion in variant Friedreich's ataxia families (English)

1 reference

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5 November 2019

1 reference

3

1 reference

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5 November 2019

author name string

Antonio Cruz-Martínez

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9270667%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Buenaventura Anciones

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9270667%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

September 1997

0 references

1 September 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9270667%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9270667%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

20

1 reference

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5 November 2019

issue

9

1 reference

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5 November 2019

page(s)

1121-1126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9270667%20AND%20SRC:MED&resulttype=core&format=json

Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

Non-invasive magnetic stimulation of human motor cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

Central motor conduction in degenerative ataxic disorders: a magnetic stimulation study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

Electrophysiological aspects of sensory conduction velocity in healthy adults. 1. Conduction velocity from digit to palm, from palm to wrist, and across the elbow, as a function of age

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

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

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

The peripheral sensory pathway in friedreich's ataxia. An examination by light and electron microscopy of the posterior nerve roots, posterior root ganglia, and peripheral sensory nerves in cases of friedreich's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

An electrophysiological and pathological study of peripheral nerves in Friedreich's ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

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/10.1002%2F%28SICI%291097-4598%28199709%2920%3A9%3C1121%3A%3AAID-MUS5%3E3.0.CO%3B2-A

10.1002/(SICI)1097-4598(199709)20:9<1121::AID-MUS5>3.0.CO;2-A

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9270667%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference