(Q24535737)

4 July 2017

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Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity (English)

1 reference

4 July 2017

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1 reference

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Moreira MC

1

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4 July 2017

Barbot C

2

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4 July 2017

Tachi N

3

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4 July 2017

Kozuka N

4

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4 July 2017

Mendonça P

5

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4 July 2017

Barros J

6

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4 July 2017

Coutinho P

7

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4 July 2017

Sequeiros J

8

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4 July 2017

Koenig M

9

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4 July 2017

language of work or name

English

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publication date

22 January 2001

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American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

volume

68

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4 July 2017

issue

2

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4 July 2017

page(s)

501-508

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Mutational analysis of the [4Fe-4S]-cluster converting iron regulatory factor from its RNA-binding form to cytoplasmic aconitase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia--a variant form of Friedreich's disease or a new clinical entity?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235299

Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation

29 November 2018

1 reference

12 December 2020

Recombinant iron-regulatory factor functions as an iron-responsive-element-binding protein, a translational repressor and an aconitase. A functional assay for translational repression and direct demonstration of the iron switch

1 reference

12 December 2020

[Siblings of early onset cerebellar ataxia with hypoalbuminemia]

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12 December 2020

[Familial early onset cerebellar ataxia with hypoalbuminemia]

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12 December 2020

Identifiers

DOI

10.1086/318191

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4 July 2017

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4 July 2017

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