(Q47238329)

English

Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease.

scientific article published in June 2000

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Friedreich ataxia

1 reference

based on heuristic

inferred from title

pathophysiology

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Fiore Manganelli

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

A Perretti

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

B Lanzillo

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

G Coppola

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

G De Joanna

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

S Cocozza

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

G De Michele

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

A Filla

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

G Caruso

10

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7 November 2019

publication date

1 June 2000

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Clinical Neurophysiology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

111

1 reference

Europe PubMed Central

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7 November 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

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7 November 2019

1023-1030

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Specific impairment of BAER's in Friedreich's ataxia. Auditory evoked responses in clinical evaluation and differential diagnosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The incidence and nature of visual pathway involvement in Friedreich's ataxia. A clinical and visual evoked potential study of 22 patients

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Friedreich's ataxia: electrophysiologic and histologic findings in patients and relatives

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Central motor conduction to upper and lower limbs after magnetic stimulation of the brain and peripheral nerve abnormalities in 20 patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Peripheral and central somatosensory nerve conduction defects in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Evoked potentials in inherited ataxias: a multimodal electrophysiological study

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Evoked potential abnormalities in the various inherited ataxias

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Brain Lesions in Friedreich's Ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Friedreich's ataxia: clinical involvement and evoked potentials

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Somatosensory and brainstem auditory evoked potentials in neurodegenerative system disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Evoked potential studies in Friedreich's ataxia and progressive early onset cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS1388-2457%2800%2900290-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1388-2457(00)00290-X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10825709%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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