(Q43159530)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20162437%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20162437%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

1

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18 January 2020

author name string

Michael S Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20162437%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Janet R Reid

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20162437%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Craig D Nielsen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20162437%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Marvin R Natowicz

5

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18 January 2020

publication date

17 February 2010

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18 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20162437%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

11

1 reference

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18 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20162437%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

261-265

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https://scigraph.springernature.com/pub.10.1007/s10048-009-0233-x

18 January 2020

exact match

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0233-X

Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.

21 January 2018

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Subjective improvement in proprioception in 2 patients with atypical Friedreich ataxia treated with varenicline (Chantix).

1 reference

12 December 2020

Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype

1 reference

12 December 2020

Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies

1 reference

12 December 2020

Visual loss and recovery in a patient with Friedreich ataxia.

1 reference

12 December 2020

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

12 December 2020

Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

1 reference

12 December 2020

Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene

1 reference

12 December 2020

Visual system involvement in patients with Friedreich's ataxia

1 reference

12 December 2020

Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up

1 reference

12 December 2020

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

1 reference

12 December 2020

Dynamics, stability and iron-binding activity of frataxin clinical mutants

1 reference

12 December 2020

Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene

1 reference

12 December 2020

Pathophysiology of the optic neuropathy associated with Friedreich ataxia

1 reference

12 December 2020

Fixation instability and oculomotor abnormalities 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

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia

1 reference

12 December 2020

Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.

1 reference

12 December 2020

The pathogenesis of Friedreich ataxia and the structure and function of frataxin

1 reference

12 December 2020

Catastrophic visual loss in a patient with Friedreich ataxia

1 reference

12 December 2020

10.1007/S10048-009-0233-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20162437%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference