(Q72214585)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8096411%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9 (English)

1 reference

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24 October 2019

1 reference

6

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24 October 2019

author name string

W Müller-Felber

1

1 reference

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24 October 2019

T Rossmanith

2

1 reference

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24 October 2019

C Spes

3

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24 October 2019

S Chamberlain

4

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24 October 2019

D Pongratz

5

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24 October 2019

publication date

1 February 1993

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Journal of Molecular Medicine

24 October 2019

published in

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24 October 2019

volume

71

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24 October 2019

issue

2

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24 October 2019

page(s)

109-114

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https://scigraph.springernature.com/pub.10.1007/bf00179990

24 October 2019

exact match

0 references

cites work

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

1 reference

12 December 2020

Intrafamilial correlation in Friedreich's ataxia

1 reference

12 December 2020

[Histology and morphometry of biopsied muscle in patients with spinocerebellar degeneration]

1 reference

12 December 2020

Correlation of clinical signs with CT findings in patients with cerebellar disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Classification of the hereditary ataxias and paraplegias

1 reference

12 December 2020

Characteristics of the cardiac hypertrophy in Friedreich's ataxia

1 reference

12 December 2020

The heart in Friedreich's ataxia

1 reference

12 December 2020

The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

1 reference

12 December 2020

Friedreich ataxia: III. Mitochondrial malic enzyme deficiency.

1 reference

12 December 2020

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

1 reference

12 December 2020

Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria

1 reference

12 December 2020

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

1 reference

12 December 2020

Pyruvate oxidation in neuromuscular diseases. Evidence of a genetic defect in two families with the clinical syndrome of Friedreich's ataxia.

1 reference

12 December 2020

Low Activities of the Pyruvate and Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia

1 reference

12 December 2020

Morphologic and functional characteristics of the heart in Friedreich's ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

Late onset recessive ataxia with Friedreich's disease phenotype

1 reference

12 December 2020

Friedreich's ataxia presenting as cardiac disease

1 reference

12 December 2020

Skeletal muscle NAD+(P) and NADP+-dependent malic enzyme in Friedreich's ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00179990

1 reference

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24 October 2019

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